Canonical Allele Identifier: CA362970091

Gene: ALDH5A1

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.24504926T>C , CM000668.2:g.24504926T>C	GRCh38
NC_000006.11:g.24505154T>C , CM000668.1:g.24505154T>C	GRCh37
NC_000006.10:g.24613133T>C	NCBI36
NG_008161.1:g.14958T>C

Transcript Alleles

HGVS	Amino-acid Change
NM_001080.3:c.667T>C MANE Select	NP_001071.1:p.Cys223Arg
ENST00000357578.8:c.667T>C MANE Select	ENSP00000350191.3:p.Cys223Arg
NM_001368954.1:c.667T>C	NP_001355883.1:p.Cys223Arg
NM_170740.1:c.667T>C	NP_733936.1:p.Cys223Arg
ENST00000348925.2:c.667T>C	ENSP00000314649.3:p.Cys223Arg
ENST00000357578.7:c.667T>C	ENSP00000350191.3:p.Cys223Arg
ENST00000491546.5:c.583T>C	ENSP00000417687.1:p.Cys195Arg
ENST00000672352.1:c.430T>C	ENSP00000500876.1:p.Cys144Arg
ENST00000672557.1:c.585T>C
ENST00000672619.1:n.27T>C
ENST00000672652.1:c.588T>C
ENST00000675422.1:n.1427T>C