Canonical Allele Identifier: CA448782583
Gene: ALDH5A1 HGNC NCBI

Linked Data

MyVariant Identifiers: chr6:g.24503595C>A (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.24503367C>A , CM000668.2:g.24503367C>A GRCh38
NC_000006.11:g.24503595C>A , CM000668.1:g.24503595C>A GRCh37
NC_000006.10:g.24611574C>A NCBI36
NG_008161.1:g.13399C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000357578.8:c.543C>A MANE Select ENSP00000350191.3:p.Thr181=
ENST00000672352.1:c.306C>A ENSP00000500876.1:p.Thr102=
ENST00000672557.1:c.461C>A
ENST00000672652.1:c.464C>A
ENST00000675422.1:n.1303C>A
ENST00000348925.2:c.543C>A ENSP00000314649.3:p.Thr181=
ENST00000357578.7:c.543C>A ENSP00000350191.3:p.Thr181=
ENST00000491546.5:c.459C>A ENSP00000417687.1:p.Thr153=
NM_001080.3:c.543C>A MANE Select NP_001071.1:p.Thr181=
NM_170740.1:c.543C>A NP_733936.1:p.Thr181=
NM_001368954.1:c.543C>A NP_001355883.1:p.Thr181=