Canonical Allele Identifier: CA3656882

Gene: ALDH5A1

Linked Data

• ClinVar Variation Id: 459975
• ClinVar RCV Id: RCV000542929 ; RCV001249504 ; RCV001577126 ; RCV002527707
• dbSNP Id: rs139719918
• ExAC: 6:24528262 C / G
• gnomAD v2: 6-24528262-C-G
• gnomAD v3: 6-24528034-C-G
• gnomAD v4: 6-24528034-C-G
• MyVariant Identifiers: chr6:g.24528262C>G (hg19) ; chr6:g.24528034C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.24528034C>G , CM000668.2:g.24528034C>G	GRCh38
NC_000006.11:g.24528262C>G , CM000668.1:g.24528262C>G	GRCh37
NC_000006.10:g.24636241C>G	NCBI36
NG_008161.1:g.38066C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000357578.8:c.1211C>G MANE Select	ENSP00000350191.3:p.Ala404Gly
ENST00000479394.2:n.326C>G
ENST00000672352.1:c.830C>G	ENSP00000500876.1:p.Ala277Gly
ENST00000672652.1:c.1174C>G
ENST00000348925.2:c.1250C>G	ENSP00000314649.3:p.Ala417Gly
ENST00000357578.7:c.1211C>G	ENSP00000350191.3:p.Ala404Gly
ENST00000479394.1:n.326C>G
ENST00000491546.5:c.1127C>G	ENSP00000417687.1:p.Ala376Gly
NM_001080.3:c.1211C>G MANE Select	NP_001071.1:p.Ala404Gly
NM_170740.1:c.1250C>G	NP_733936.1:p.Ala417Gly
NM_001368954.1:c.1067C>G	NP_001355883.1:p.Ala356Gly