Canonical Allele Identifier: CA362978810

Gene: ALDH5A1

Linked Data

• gnomAD v4: 6-24528130-A-C
• COSMIC: COSM5622657
• MyVariant Identifiers: chr6:g.24528358A>C (hg19) ; chr6:g.24528130A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.24528130A>C , CM000668.2:g.24528130A>C	GRCh38
NC_000006.11:g.24528358A>C , CM000668.1:g.24528358A>C	GRCh37
NC_000006.10:g.24636337A>C	NCBI36
NG_008161.1:g.38162A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000357578.8:c.1307A>C MANE Select	ENSP00000350191.3:p.His436Pro
ENST00000479394.2:n.422A>C
ENST00000672352.1:c.926A>C	ENSP00000500876.1:p.His309Pro
ENST00000672652.1:c.1270A>C
ENST00000348925.2:c.1346A>C	ENSP00000314649.3:p.His449Pro
ENST00000357578.7:c.1307A>C	ENSP00000350191.3:p.His436Pro
ENST00000479394.1:n.422A>C
ENST00000491546.5:c.1223A>C	ENSP00000417687.1:p.His408Pro
NM_001080.3:c.1307A>C MANE Select	NP_001071.1:p.His436Pro
NM_170740.1:c.1346A>C	NP_733936.1:p.His449Pro
NM_001368954.1:c.1163A>C	NP_001355883.1:p.His388Pro