Canonical Allele Identifier: CA362978682

Gene: ALDH5A1

Linked Data

• gnomAD v4: 6-24528111-C-G
• MyVariant Identifiers: chr6:g.24528339C>G (hg19) ; chr6:g.24528111C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.24528111C>G , CM000668.2:g.24528111C>G	GRCh38
NC_000006.11:g.24528339C>G , CM000668.1:g.24528339C>G	GRCh37
NC_000006.10:g.24636318C>G	NCBI36
NG_008161.1:g.38143C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000357578.8:c.1288C>G MANE Select	ENSP00000350191.3:p.Gln430Glu
ENST00000479394.2:n.403C>G
ENST00000672352.1:c.907C>G	ENSP00000500876.1:p.Gln303Glu
ENST00000672652.1:c.1251C>G
ENST00000348925.2:c.1327C>G	ENSP00000314649.3:p.Gln443Glu
ENST00000357578.7:c.1288C>G	ENSP00000350191.3:p.Gln430Glu
ENST00000479394.1:n.403C>G
ENST00000491546.5:c.1204C>G	ENSP00000417687.1:p.Gln402Glu
NM_001080.3:c.1288C>G MANE Select	NP_001071.1:p.Gln430Glu
NM_170740.1:c.1327C>G	NP_733936.1:p.Gln443Glu
NM_001368954.1:c.1144C>G	NP_001355883.1:p.Gln382Glu