[Table, Nomenclature of Selected CYP3A5 Alleles] - Medical Genetics Summaries

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Pratt VM, Scott SA, Pirmohamed M, et al., editors. Medical Genetics Summaries [Internet]. Bethesda (MD): National Center for Biotechnology Information (US); 2012-.

Medical Genetics Summaries [Internet].

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Nomenclature of Selected CYP3A5 Alleles

Common allele name	Alternative names	HGVS reference sequence		dbSNP reference identifier for allele location
Common allele name	Alternative names	Coding	Protein	dbSNP reference identifier for allele location
CYP3A53*	6981A>G	NM_000777.5:c.219-237A>G	Not applicable—variant occurs in a non-coding region	rs776746
CYP3A56*	14685G>A	NM_000777.5:c.624G>A	NP_000768.1:p.Lys208= (Alters mRNA splicing)	rs10264272
CYP3A57*	27126_27127insT	NM_000777.5:c.1035dup	NP_000768.1:p.Thr346fs	rs41303343

: CYP3A5*1 is the wild-type allele and is determined to be present with no variants are detected.
: Pharmacogenetic Allele Nomenclature: International Workgroup Recommendations for Test Result Reporting (76).
: Guidelines for the description and nomenclature of gene variations are available from the Human Genome Variation Society (HGVS).
: Nomenclature for Cytochrome P450 enzymes is available from the Pharmacogene Variation (PharmVar) Consortium; the authors defer to that authority with regards to any discrepancies in allele definitions.

From: Oxycodone Therapy and CYP2D6 Genotype

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Kane M. Oxycodone Therapy and CYP2D6 Genotype. 2022 Oct 4 [Updated 2024 Aug 21]. In: Pratt VM, Scott SA, Pirmohamed M, et al., editors. Medical Genetics Summaries [Internet]. Bethesda (MD): National Center for Biotechnology Information (US); 2012-. [Table, Nomenclature of Selected CYP3A5 Alleles]
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