Canonical Allele Identifier: CA362978761

Gene: ALDH5A1

Linked Data

• ClinVar Variation Id: 954019
• ClinVar RCV Id: RCV001226400
• dbSNP Id: rs1759857234
• MyVariant Identifiers: chr6:g.24528349T>G (hg19) ; chr6:g.24528121T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.24528121T>G , CM000668.2:g.24528121T>G	GRCh38
NC_000006.11:g.24528349T>G , CM000668.1:g.24528349T>G	GRCh37
NC_000006.10:g.24636328T>G	NCBI36
NG_008161.1:g.38153T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000357578.8:c.1298T>G MANE Select	ENSP00000350191.3:p.Leu433Arg
ENST00000479394.2:n.413T>G
ENST00000672352.1:c.917T>G	ENSP00000500876.1:p.Leu306Arg
ENST00000672652.1:c.1261T>G
ENST00000348925.2:c.1337T>G	ENSP00000314649.3:p.Leu446Arg
ENST00000357578.7:c.1298T>G	ENSP00000350191.3:p.Leu433Arg
ENST00000479394.1:n.413T>G
ENST00000491546.5:c.1214T>G	ENSP00000417687.1:p.Leu405Arg
NM_001080.3:c.1298T>G MANE Select	NP_001071.1:p.Leu433Arg
NM_170740.1:c.1337T>G	NP_733936.1:p.Leu446Arg
NM_001368954.1:c.1154T>G	NP_001355883.1:p.Leu385Arg