ClinVar

NM_000026.4(ADSL):c.1291G>A (p.Ala431Thr)

Gene:

ADSL:adenylosuccinate lyase [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

22q13.1

Genomic location:

• Chr22: 40364979 (on Assembly GRCh38)
• Chr22: 40760983 (on Assembly GRCh37)

Preferred name:

NM_000026.4(ADSL):c.1291G>A (p.Ala431Thr)

Other names:

p.A431T:GCC>ACC

HGVS:

• NC_000022.11:g.40364979G>A
• NG_007993.2:g.23480G>A
• NM_000026.4:c.1291G>AMANE SELECT
• NM_001123378.3:c.1191+614G>A
• NM_001317923.2:c.1099G>A
• NM_001363840.3:c.1291G>A
• NP_000017.1:p.Ala431Thr
• NP_001304852.1:p.Ala367Thr
• NP_001350769.1:p.Ala431Thr
• NC_000022.10:g.40760983G>A
• NM_000026.2:c.1291G>A
• NR_134256.2:n.1381G>A

This HGVS expression did not pass validation

Protein change:

A367T

Links:

dbSNP: rs200814886

NCBI 1000 Genomes Browser:

rs200814886

Molecular consequence:

• NM_001123378.3:c.1191+614G>A - intron variant - [Sequence Ontology: SO:0001627]
• NM_000026.4:c.1291G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001317923.2:c.1099G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001363840.3:c.1291G>A - missense variant - [Sequence Ontology: SO:0001583]
• NR_134256.2:n.1381G>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]