Canonical Allele Identifier: CA362978565
Gene: ALDH5A1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.24528093C>A , CM000668.2:g.24528093C>A GRCh38
NC_000006.11:g.24528321C>A , CM000668.1:g.24528321C>A GRCh37
NC_000006.10:g.24636300C>A NCBI36
NG_008161.1:g.38125C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000357578.8:c.1270C>A MANE Select ENSP00000350191.3:p.Leu424Met
ENST00000479394.2:n.385C>A
ENST00000672352.1:c.889C>A ENSP00000500876.1:p.Leu297Met
ENST00000672652.1:c.1233C>A
ENST00000348925.2:c.1309C>A ENSP00000314649.3:p.Leu437Met
ENST00000357578.7:c.1270C>A ENSP00000350191.3:p.Leu424Met
ENST00000479394.1:n.385C>A
ENST00000491546.5:c.1186C>A ENSP00000417687.1:p.Leu396Met
NM_001080.3:c.1270C>A MANE Select NP_001071.1:p.Leu424Met
NM_170740.1:c.1309C>A NP_733936.1:p.Leu437Met
NM_001368954.1:c.1126C>A NP_001355883.1:p.Leu376Met