Canonical Allele Identifier: CA448782582

Gene: ALDH5A1

Linked Data

• COSMIC: COSM420966
• MyVariant Identifiers: chr6:g.24503595C>T (hg19)

Genomic Alleles

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

Transcript Alleles

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