Canonical Allele Identifier: CA136127638

Gene: ALDH5A1

Linked Data

• dbSNP Id: rs990948820
• gnomAD v2: 6-24503140-T-A
• gnomAD v3: 6-24502912-T-A
• gnomAD v4: 6-24502912-T-A
• MyVariant Identifiers: chr6:g.24503140T>A (hg19) ; chr6:g.24502912T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.24502912T>A , CM000668.2:g.24502912T>A	GRCh38
NC_000006.11:g.24503140T>A , CM000668.1:g.24503140T>A	GRCh37
NC_000006.10:g.24611119T>A	NCBI36
NG_008161.1:g.12944T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000357578.8:c.438+306T>A MANE Select	ENSP00000350191.3:n.438+306T>A
ENST00000672352.1:c.201+306T>A	ENSP00000500876.1:n.201+306T>A
ENST00000672557.1:c.356+149T>A
ENST00000672652.1:c.359+306T>A
ENST00000675422.1:n.1198+306T>A
ENST00000348925.2:c.438+306T>A	ENSP00000314649.3:n.438+306T>A
ENST00000357578.7:c.438+306T>A	ENSP00000350191.3:n.438+306T>A
ENST00000491546.5:c.355-351T>A	ENSP00000417687.1:n.355-351T>A
NM_001080.3:c.438+306T>A MANE Select	NP_001071.1:n.438+306T>A
NM_170740.1:c.438+306T>A	NP_733936.1:n.438+306T>A
NM_001368954.1:c.438+306T>A	NP_001355883.1:n.438+306T>A