Canonical Allele Identifier: CA3656884

Gene: ALDH5A1

Linked Data

• dbSNP Id: rs773955740
• ExAC: 6:24528268 T / C
• gnomAD v2: 6-24528268-T-C
• gnomAD v4: 6-24528040-T-C
• MyVariant Identifiers: chr6:g.24528268T>C (hg19) ; chr6:g.24528040T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.24528040T>C , CM000668.2:g.24528040T>C	GRCh38
NC_000006.11:g.24528268T>C , CM000668.1:g.24528268T>C	GRCh37
NC_000006.10:g.24636247T>C	NCBI36
NG_008161.1:g.38072T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000357578.8:c.1217T>C MANE Select	ENSP00000350191.3:p.Val406Ala
ENST00000479394.2:n.332T>C
ENST00000672352.1:c.836T>C	ENSP00000500876.1:p.Val279Ala
ENST00000672652.1:c.1180T>C
ENST00000348925.2:c.1256T>C	ENSP00000314649.3:p.Val419Ala
ENST00000357578.7:c.1217T>C	ENSP00000350191.3:p.Val406Ala
ENST00000479394.1:n.332T>C
ENST00000491546.5:c.1133T>C	ENSP00000417687.1:p.Val378Ala
NM_001080.3:c.1217T>C MANE Select	NP_001071.1:p.Val406Ala
NM_170740.1:c.1256T>C	NP_733936.1:p.Val419Ala
NM_001368954.1:c.1073T>C	NP_001355883.1:p.Val358Ala