Canonical Allele Identifier: CA136139451
Gene: ALDH5A1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1013890
ClinVar RCV Id: RCV001312550
dbSNP Id: rs750638943
gnomAD v4: 6-24528147-C-T

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.24528147C>T , CM000668.2:g.24528147C>T GRCh38
NC_000006.11:g.24528375C>T , CM000668.1:g.24528375C>T GRCh37
NC_000006.10:g.24636354C>T NCBI36
NG_008161.1:g.38179C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000357578.8:c.1324C>T MANE Select ENSP00000350191.3:p.Pro442Ser
ENST00000479394.2:n.439C>T
ENST00000672352.1:c.943C>T ENSP00000500876.1:p.Pro315Ser
ENST00000672652.1:c.1287C>T
ENST00000348925.2:c.1363C>T ENSP00000314649.3:p.Pro455Ser
ENST00000357578.7:c.1324C>T ENSP00000350191.3:p.Pro442Ser
ENST00000479394.1:n.439C>T
ENST00000491546.5:c.1240C>T ENSP00000417687.1:p.Pro414Ser
NM_001080.3:c.1324C>T MANE Select NP_001071.1:p.Pro442Ser
NM_170740.1:c.1363C>T NP_733936.1:p.Pro455Ser
NM_001368954.1:c.1180C>T NP_001355883.1:p.Pro394Ser