Canonical Allele Identifier: CA823302029
Gene: ALDH5A1 HGNC NCBI

Linked Data

dbSNP Id: rs372040923
gnomAD v3: 6-24527845-G-T
gnomAD v4: 6-24527845-G-T

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.24527845G>T , CM000668.2:g.24527845G>T GRCh38
NC_000006.11:g.24528073G>T , CM000668.1:g.24528073G>T GRCh37
NC_000006.10:g.24636052G>T NCBI36
NG_008161.1:g.37877G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000357578.8:c.1174-152G>T MANE Select ENSP00000350191.3:n.1174-152G>T
ENST00000479394.2:n.289-152G>T
ENST00000672352.1:c.793-152G>T ENSP00000500876.1:n.793-152G>T
ENST00000672652.1:c.1137-152G>T
ENST00000348925.2:c.1213-152G>T ENSP00000314649.3:n.1213-152G>T
ENST00000357578.7:c.1174-152G>T ENSP00000350191.3:n.1174-152G>T
ENST00000479394.1:n.289-152G>T
ENST00000491546.5:c.1090-152G>T ENSP00000417687.1:n.1090-152G>T
NM_001080.3:c.1174-152G>T MANE Select NP_001071.1:n.1174-152G>T
NM_170740.1:c.1213-152G>T NP_733936.1:n.1213-152G>T
NM_001368954.1:c.1030-152G>T NP_001355883.1:n.1030-152G>T