Canonical Allele Identifier: CA362978350

Gene: ALDH5A1

Linked Data

• MyVariant Identifiers: chr6:g.24528295T>A (hg19) ; chr6:g.24528067T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.24528067T>A , CM000668.2:g.24528067T>A	GRCh38
NC_000006.11:g.24528295T>A , CM000668.1:g.24528295T>A	GRCh37
NC_000006.10:g.24636274T>A	NCBI36
NG_008161.1:g.38099T>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000357578.8:c.1244T>A MANE Select	ENSP00000350191.3:p.Leu415His
ENST00000479394.2:n.359T>A
ENST00000672352.1:c.863T>A	ENSP00000500876.1:p.Leu288His
ENST00000672652.1:c.1207T>A
ENST00000348925.2:c.1283T>A	ENSP00000314649.3:p.Leu428His
ENST00000357578.7:c.1244T>A	ENSP00000350191.3:p.Leu415His
ENST00000479394.1:n.359T>A
ENST00000491546.5:c.1160T>A	ENSP00000417687.1:p.Leu387His
NM_001080.3:c.1244T>A MANE Select	NP_001071.1:p.Leu415His
NM_170740.1:c.1283T>A	NP_733936.1:p.Leu428His
NM_001368954.1:c.1100T>A	NP_001355883.1:p.Leu367His