Canonical Allele Identifier: CA362978399

Gene: ALDH5A1

Linked Data

• gnomAD v4: 6-24528072-A-G
• MyVariant Identifiers: chr6:g.24528300A>G (hg19) ; chr6:g.24528072A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.24528072A>G , CM000668.2:g.24528072A>G	GRCh38
NC_000006.11:g.24528300A>G , CM000668.1:g.24528300A>G	GRCh37
NC_000006.10:g.24636279A>G	NCBI36
NG_008161.1:g.38104A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000357578.8:c.1249A>G MANE Select	ENSP00000350191.3:p.Lys417Glu
ENST00000479394.2:n.364A>G
ENST00000672352.1:c.868A>G	ENSP00000500876.1:p.Lys290Glu
ENST00000672652.1:c.1212A>G
ENST00000348925.2:c.1288A>G	ENSP00000314649.3:p.Lys430Glu
ENST00000357578.7:c.1249A>G	ENSP00000350191.3:p.Lys417Glu
ENST00000479394.1:n.364A>G
ENST00000491546.5:c.1165A>G	ENSP00000417687.1:p.Lys389Glu
NM_001080.3:c.1249A>G MANE Select	NP_001071.1:p.Lys417Glu
NM_170740.1:c.1288A>G	NP_733936.1:p.Lys430Glu
NM_001368954.1:c.1105A>G	NP_001355883.1:p.Lys369Glu