Canonical Allele Identifier: CA362969653

Gene: ALDH5A1

Linked Data

• dbSNP Id: rs1319121879
• gnomAD v2: 6-24503620-G-A
• gnomAD v3: 6-24503392-G-A
• gnomAD v4: 6-24503392-G-A
• MyVariant Identifiers: chr6:g.24503620G>A (hg19) ; chr6:g.24503392G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.24503392G>A , CM000668.2:g.24503392G>A	GRCh38
NC_000006.11:g.24503620G>A , CM000668.1:g.24503620G>A	GRCh37
NC_000006.10:g.24611599G>A	NCBI36
NG_008161.1:g.13424G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000357578.8:c.568G>A MANE Select	ENSP00000350191.3:p.Val190Ile
ENST00000672352.1:c.331G>A	ENSP00000500876.1:p.Val111Ile
ENST00000672557.1:c.486G>A
ENST00000672652.1:c.489G>A
ENST00000675422.1:n.1328G>A
ENST00000348925.2:c.568G>A	ENSP00000314649.3:p.Val190Ile
ENST00000357578.7:c.568G>A	ENSP00000350191.3:p.Val190Ile
ENST00000491546.5:c.484G>A	ENSP00000417687.1:p.Val162Ile
NM_001080.3:c.568G>A MANE Select	NP_001071.1:p.Val190Ile
NM_170740.1:c.568G>A	NP_733936.1:p.Val190Ile
NM_001368954.1:c.568G>A	NP_001355883.1:p.Val190Ile