Canonical Allele Identifier: CA3656880

Gene: ALDH5A1

Linked Data

• ClinVar Variation Id: 286690
• ClinVar RCV Id: RCV000309054 ; RCV001079528 ; RCV001263309 ; RCV003957465
• dbSNP Id: rs147358733
• ExAC: 6:24528249 G / A
• gnomAD v2: 6-24528249-G-A
• gnomAD v3: 6-24528021-G-A
• gnomAD v4: 6-24528021-G-A
• COSMIC: COSM1076489
• MyVariant Identifiers: chr6:g.24528249G>A (hg19) ; chr6:g.24528021G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.24528021G>A , CM000668.2:g.24528021G>A	GRCh38
NC_000006.11:g.24528249G>A , CM000668.1:g.24528249G>A	GRCh37
NC_000006.10:g.24636228G>A	NCBI36
NG_008161.1:g.38053G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000357578.8:c.1198G>A MANE Select	ENSP00000350191.3:p.Val400Ile
ENST00000479394.2:n.313G>A
ENST00000672352.1:c.817G>A	ENSP00000500876.1:p.Val273Ile
ENST00000672652.1:c.1161G>A
ENST00000348925.2:c.1237G>A	ENSP00000314649.3:p.Val413Ile
ENST00000357578.7:c.1198G>A	ENSP00000350191.3:p.Val400Ile
ENST00000479394.1:n.313G>A
ENST00000491546.5:c.1114G>A	ENSP00000417687.1:p.Val372Ile
NM_001080.3:c.1198G>A MANE Select	NP_001071.1:p.Val400Ile
NM_170740.1:c.1237G>A	NP_733936.1:p.Val413Ile
NM_001368954.1:c.1054G>A	NP_001355883.1:p.Val352Ile