Canonical Allele Identifier: CA362978811
Gene: ALDH5A1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.24528130A>G , CM000668.2:g.24528130A>G GRCh38
NC_000006.11:g.24528358A>G , CM000668.1:g.24528358A>G GRCh37
NC_000006.10:g.24636337A>G NCBI36
NG_008161.1:g.38162A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000357578.8:c.1307A>G MANE Select ENSP00000350191.3:p.His436Arg
ENST00000479394.2:n.422A>G
ENST00000672352.1:c.926A>G ENSP00000500876.1:p.His309Arg
ENST00000672652.1:c.1270A>G
ENST00000348925.2:c.1346A>G ENSP00000314649.3:p.His449Arg
ENST00000357578.7:c.1307A>G ENSP00000350191.3:p.His436Arg
ENST00000479394.1:n.422A>G
ENST00000491546.5:c.1223A>G ENSP00000417687.1:p.His408Arg
NM_001080.3:c.1307A>G MANE Select NP_001071.1:p.His436Arg
NM_170740.1:c.1346A>G NP_733936.1:p.His449Arg
NM_001368954.1:c.1163A>G NP_001355883.1:p.His388Arg