Canonical Allele Identifier: CA362978773
Gene: ALDH5A1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.24528123T>G , CM000668.2:g.24528123T>G GRCh38
NC_000006.11:g.24528351T>G , CM000668.1:g.24528351T>G GRCh37
NC_000006.10:g.24636330T>G NCBI36
NG_008161.1:g.38155T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000357578.8:c.1300T>G MANE Select ENSP00000350191.3:p.Cys434Gly
ENST00000479394.2:n.415T>G
ENST00000672352.1:c.919T>G ENSP00000500876.1:p.Cys307Gly
ENST00000672652.1:c.1263T>G
ENST00000348925.2:c.1339T>G ENSP00000314649.3:p.Cys447Gly
ENST00000357578.7:c.1300T>G ENSP00000350191.3:p.Cys434Gly
ENST00000479394.1:n.415T>G
ENST00000491546.5:c.1216T>G ENSP00000417687.1:p.Cys406Gly
NM_001080.3:c.1300T>G MANE Select NP_001071.1:p.Cys434Gly
NM_170740.1:c.1339T>G NP_733936.1:p.Cys447Gly
NM_001368954.1:c.1156T>G NP_001355883.1:p.Cys386Gly