Canonical Allele Identifier: CA362969641

Gene: ALDH5A1

Linked Data

• ClinVar Variation Id: 1878451
• ClinVar RCV Id: RCV002510504
• MyVariant Identifiers: chr6:g.24503611C>G (hg19) ; chr6:g.24503383C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.24503383C>G , CM000668.2:g.24503383C>G	GRCh38
NC_000006.11:g.24503611C>G , CM000668.1:g.24503611C>G	GRCh37
NC_000006.10:g.24611590C>G	NCBI36
NG_008161.1:g.13415C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000357578.8:c.559C>G MANE Select	ENSP00000350191.3:p.Arg187Gly
ENST00000672352.1:c.322C>G	ENSP00000500876.1:p.Arg108Gly
ENST00000672557.1:c.477C>G
ENST00000672652.1:c.480C>G
ENST00000675422.1:n.1319C>G
ENST00000348925.2:c.559C>G	ENSP00000314649.3:p.Arg187Gly
ENST00000357578.7:c.559C>G	ENSP00000350191.3:p.Arg187Gly
ENST00000491546.5:c.475C>G	ENSP00000417687.1:p.Arg159Gly
NM_001080.3:c.559C>G MANE Select	NP_001071.1:p.Arg187Gly
NM_170740.1:c.559C>G	NP_733936.1:p.Arg187Gly
NM_001368954.1:c.559C>G	NP_001355883.1:p.Arg187Gly