Canonical Allele Identifier: CA362969733

Gene: ALDH5A1

Linked Data

• ClinVar Variation Id: 1878455
• ClinVar RCV Id: RCV002510508
• gnomAD v4: 6-24503432-C-G
• MyVariant Identifiers: chr6:g.24503660C>G (hg19) ; chr6:g.24503432C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.24503432C>G , CM000668.2:g.24503432C>G	GRCh38
NC_000006.11:g.24503660C>G , CM000668.1:g.24503660C>G	GRCh37
NC_000006.10:g.24611639C>G	NCBI36
NG_008161.1:g.13464C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000357578.8:c.608C>G MANE Select	ENSP00000350191.3:p.Pro203Arg
ENST00000672352.1:c.371C>G	ENSP00000500876.1:p.Pro124Arg
ENST00000672557.1:c.526C>G
ENST00000672652.1:c.529C>G
ENST00000675422.1:n.1368C>G
ENST00000348925.2:c.608C>G	ENSP00000314649.3:p.Pro203Arg
ENST00000357578.7:c.608C>G	ENSP00000350191.3:p.Pro203Arg
ENST00000491546.5:c.524C>G	ENSP00000417687.1:p.Pro175Arg
NM_001080.3:c.608C>G MANE Select	NP_001071.1:p.Pro203Arg
NM_170740.1:c.608C>G	NP_733936.1:p.Pro203Arg
NM_001368954.1:c.608C>G	NP_001355883.1:p.Pro203Arg