Canonical Allele Identifier: CA823302071
Gene: ALDH5A1 HGNC NCBI

Linked Data

dbSNP Id: rs1202451921
gnomAD v3: 6-24527921-G-T
gnomAD v4: 6-24527921-G-T

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.24527921G>T , CM000668.2:g.24527921G>T GRCh38
NC_000006.11:g.24528149G>T , CM000668.1:g.24528149G>T GRCh37
NC_000006.10:g.24636128G>T NCBI36
NG_008161.1:g.37953G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000357578.8:c.1174-76G>T MANE Select ENSP00000350191.3:n.1174-76G>T
ENST00000479394.2:n.289-76G>T
ENST00000672352.1:c.793-76G>T ENSP00000500876.1:n.793-76G>T
ENST00000672652.1:c.1137-76G>T
ENST00000348925.2:c.1213-76G>T ENSP00000314649.3:n.1213-76G>T
ENST00000357578.7:c.1174-76G>T ENSP00000350191.3:n.1174-76G>T
ENST00000479394.1:n.289-76G>T
ENST00000491546.5:c.1090-76G>T ENSP00000417687.1:n.1090-76G>T
NM_001080.3:c.1174-76G>T MANE Select NP_001071.1:n.1174-76G>T
NM_170740.1:c.1213-76G>T NP_733936.1:n.1213-76G>T
NM_001368954.1:c.1030-76G>T NP_001355883.1:n.1030-76G>T