Canonical Allele Identifier: CA448787646
Gene: ALDH5A1 HGNC NCBI

Linked Data

MyVariant Identifiers: chr6:g.24528338C>A (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.24528110C>A , CM000668.2:g.24528110C>A GRCh38
NC_000006.11:g.24528338C>A , CM000668.1:g.24528338C>A GRCh37
NC_000006.10:g.24636317C>A NCBI36
NG_008161.1:g.38142C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000357578.8:c.1287C>A MANE Select ENSP00000350191.3:p.Thr429=
ENST00000479394.2:n.402C>A
ENST00000672352.1:c.906C>A ENSP00000500876.1:p.Thr302=
ENST00000672652.1:c.1250C>A
ENST00000348925.2:c.1326C>A ENSP00000314649.3:p.Thr442=
ENST00000357578.7:c.1287C>A ENSP00000350191.3:p.Thr429=
ENST00000479394.1:n.402C>A
ENST00000491546.5:c.1203C>A ENSP00000417687.1:p.Thr401=
NM_001080.3:c.1287C>A MANE Select NP_001071.1:p.Thr429=
NM_170740.1:c.1326C>A NP_733936.1:p.Thr442=
NM_001368954.1:c.1143C>A NP_001355883.1:p.Thr381=