Canonical Allele Identifier: CA3656581

Gene: ALDH5A1

Linked Data

• ClinVar Variation Id: 356128
• ClinVar RCV Id: RCV000324480 ; RCV001555747
• dbSNP Id: rs535825137
• ExAC: 6:24495517 C / G
• gnomAD v2: 6-24495517-C-G
• gnomAD v3: 6-24495289-C-G
• gnomAD v4: 6-24495289-C-G
• MyVariant Identifiers: chr6:g.24495517C>G (hg19) ; chr6:g.24495289C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.24495289C>G , CM000668.2:g.24495289C>G	GRCh38
NC_000006.11:g.24495517C>G , CM000668.1:g.24495517C>G	GRCh37
NC_000006.10:g.24603496C>G	NCBI36
NG_008161.1:g.5321C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000357578.8:c.293C>G MANE Select	ENSP00000350191.3:p.Ala98Gly
ENST00000672352.1:c.56C>G	ENSP00000500876.1:p.Ala19Gly
ENST00000672557.1:c.54C>G
ENST00000672652.1:c.214C>G
ENST00000348925.2:c.293C>G	ENSP00000314649.3:p.Ala98Gly
ENST00000357578.7:c.293C>G	ENSP00000350191.3:p.Ala98Gly
ENST00000491546.5:c.293C>G	ENSP00000417687.1:p.Ala98Gly
NM_001080.3:c.293C>G MANE Select	NP_001071.1:p.Ala98Gly
NM_170740.1:c.293C>G	NP_733936.1:p.Ala98Gly
NM_001368954.1:c.293C>G	NP_001355883.1:p.Ala98Gly