Canonical Allele Identifier: CA362978808

Gene: ALDH5A1

Linked Data

• COSMIC: COSM224295
• MyVariant Identifiers: chr6:g.24528357C>T (hg19) ; chr6:g.24528129C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.24528129C>T , CM000668.2:g.24528129C>T	GRCh38
NC_000006.11:g.24528357C>T , CM000668.1:g.24528357C>T	GRCh37
NC_000006.10:g.24636336C>T	NCBI36
NG_008161.1:g.38161C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000357578.8:c.1306C>T MANE Select	ENSP00000350191.3:p.His436Tyr
ENST00000479394.2:n.421C>T
ENST00000672352.1:c.925C>T	ENSP00000500876.1:p.His309Tyr
ENST00000672652.1:c.1269C>T
ENST00000348925.2:c.1345C>T	ENSP00000314649.3:p.His449Tyr
ENST00000357578.7:c.1306C>T	ENSP00000350191.3:p.His436Tyr
ENST00000479394.1:n.421C>T
ENST00000491546.5:c.1222C>T	ENSP00000417687.1:p.His408Tyr
NM_001080.3:c.1306C>T MANE Select	NP_001071.1:p.His436Tyr
NM_170740.1:c.1345C>T	NP_733936.1:p.His449Tyr
NM_001368954.1:c.1162C>T	NP_001355883.1:p.His388Tyr