Canonical Allele Identifier: CA362978614

Gene: ALDH5A1

Linked Data

• MyVariant Identifiers: chr6:g.24528328G>T (hg19) ; chr6:g.24528100G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.24528100G>T , CM000668.2:g.24528100G>T	GRCh38
NC_000006.11:g.24528328G>T , CM000668.1:g.24528328G>T	GRCh37
NC_000006.10:g.24636307G>T	NCBI36
NG_008161.1:g.38132G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000357578.8:c.1277G>T MANE Select	ENSP00000350191.3:p.Cys426Phe
ENST00000479394.2:n.392G>T
ENST00000672352.1:c.896G>T	ENSP00000500876.1:p.Cys299Phe
ENST00000672652.1:c.1240G>T
ENST00000348925.2:c.1316G>T	ENSP00000314649.3:p.Cys439Phe
ENST00000357578.7:c.1277G>T	ENSP00000350191.3:p.Cys426Phe
ENST00000479394.1:n.392G>T
ENST00000491546.5:c.1193G>T	ENSP00000417687.1:p.Cys398Phe
NM_001080.3:c.1277G>T MANE Select	NP_001071.1:p.Cys426Phe
NM_170740.1:c.1316G>T	NP_733936.1:p.Cys439Phe
NM_001368954.1:c.1133G>T	NP_001355883.1:p.Cys378Phe