Canonical Allele Identifier: CA2573140146

Gene: ALDH5A1

Linked Data

• ClinVar Variation Id: 1572023
• ClinVar RCV Id: RCV002206006
• dbSNP Id: rs2127382395
• gnomAD v4: 6-24503252-A-G

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.24503252A>G , CM000668.2:g.24503252A>G	GRCh38
NC_000006.11:g.24503480A>G , CM000668.1:g.24503480A>G	GRCh37
NC_000006.10:g.24611459A>G	NCBI36
NG_008161.1:g.13284A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000357578.8:c.439-11A>G MANE Select	ENSP00000350191.3:n.439-11A>G
ENST00000672352.1:c.202-11A>G	ENSP00000500876.1:n.202-11A>G
ENST00000672557.1:c.357-11A>G
ENST00000672652.1:c.360-11A>G
ENST00000675422.1:n.1199-11A>G
ENST00000348925.2:c.439-11A>G	ENSP00000314649.3:n.439-11A>G
ENST00000357578.7:c.439-11A>G	ENSP00000350191.3:n.439-11A>G
ENST00000491546.5:c.355-11A>G	ENSP00000417687.1:n.355-11A>G
NM_001080.3:c.439-11A>G MANE Select	NP_001071.1:n.439-11A>G
NM_170740.1:c.439-11A>G	NP_733936.1:n.439-11A>G
NM_001368954.1:c.439-11A>G	NP_001355883.1:n.439-11A>G