ClinVar

NM_000382.3(ALDH3A2):c.1279T>C (p.Leu427=)

Gene:

ALDH3A2:aldehyde dehydrogenase 3 family member A2 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

17p11.2

Genomic location:

• Chr17: 19671792 (on Assembly GRCh38)
• Chr17: 19575105 (on Assembly GRCh37)

Preferred name:

NM_000382.3(ALDH3A2):c.1279T>C (p.Leu427=)

HGVS:

• NC_000017.11:g.19671792T>C
• NG_007095.2:g.28042T>C
• NM_000382.3:c.1279T>CMANE SELECT
• NM_001031806.2:c.1279T>C
• NM_001369136.1:c.1279T>C
• NM_001369137.2:c.1279T>C
• NM_001369138.2:c.1279T>C
• NM_001369139.1:c.1279T>C
• NM_001369146.2:c.1208-3766T>C
• NM_001369148.2:c.700T>C
• NP_000373.1:p.Leu427=
• NP_001026976.1:p.Leu427=
• NP_001356065.1:p.Leu427=
• NP_001356066.1:p.Leu427=
• NP_001356067.1:p.Leu427=
• NP_001356068.1:p.Leu427=
• NP_001356077.1:p.Leu234=
• NC_000017.10:g.19575105T>C

This HGVS expression did not pass validation

Links:

dbSNP: rs2152333234

NCBI 1000 Genomes Browser:

rs2152333234

Molecular consequence:

• NM_001369146.2:c.1208-3766T>C - intron variant - [Sequence Ontology: SO:0001627]
• NM_000382.3:c.1279T>C - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001031806.2:c.1279T>C - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001369136.1:c.1279T>C - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001369137.2:c.1279T>C - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001369138.2:c.1279T>C - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001369139.1:c.1279T>C - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001369148.2:c.700T>C - synonymous variant - [Sequence Ontology: SO:0001819]