Canonical Allele Identifier: CA565926600

Gene: ALDH5A1

Linked Data

• dbSNP Id: rs1488251031
• gnomAD v2: 6-24503122-T-A
• gnomAD v3: 6-24502894-T-A
• gnomAD v4: 6-24502894-T-A
• MyVariant Identifiers: chr6:g.24503122T>A (hg19) ; chr6:g.24502894T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.24502894T>A , CM000668.2:g.24502894T>A	GRCh38
NC_000006.11:g.24503122T>A , CM000668.1:g.24503122T>A	GRCh37
NC_000006.10:g.24611101T>A	NCBI36
NG_008161.1:g.12926T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000357578.8:c.438+288T>A MANE Select	ENSP00000350191.3:n.438+288T>A
ENST00000672352.1:c.201+288T>A	ENSP00000500876.1:n.201+288T>A
ENST00000672557.1:c.356+131T>A
ENST00000672652.1:c.359+288T>A
ENST00000675422.1:n.1198+288T>A
ENST00000348925.2:c.438+288T>A	ENSP00000314649.3:n.438+288T>A
ENST00000357578.7:c.438+288T>A	ENSP00000350191.3:n.438+288T>A
ENST00000491546.5:c.355-369T>A	ENSP00000417687.1:n.355-369T>A
NM_001080.3:c.438+288T>A MANE Select	NP_001071.1:n.438+288T>A
NM_170740.1:c.438+288T>A	NP_733936.1:n.438+288T>A
NM_001368954.1:c.438+288T>A	NP_001355883.1:n.438+288T>A