Canonical Allele Identifier: CA3656974
Gene: ALDH5A1 HGNC NCBI
MyVariant.info:
GRCh38 chr6:g.24533701G>A
GRCh37 chr6:g.24533929G>A
Revel Score:
ENST00000357578 (MANE Select) 0.890
ENST00000546278 0.890
ENST00000491546 0.890
ENST00000348925 0.890
gnomAD v2:
6:24533929 G / A
gnomAD v3:
6:24533701 G / A
gnomAD v4:
chr6-24533701-G-A
Joint Max Group AF 0.00009208 (AFR)
Genomes Max Group AF 0.00004734 (AFR)
Exomes Max Group AF 0.0000975 (AFR)
ClinVar RCV:
RCV000489901
RCV001050829
ClinVar Variation:
426524
dbSNP:
72552284
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Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.24533701G>A , CM000668.2:g.24533701G>A GRCh38
NC_000006.11:g.24533929G>A , CM000668.1:g.24533929G>A GRCh37
NC_000006.10:g.24641908G>A NCBI36
NG_008161.1:g.43733G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000357578.8:c.1597G>A MANE Select ENSP00000350191.3:p.Gly533Arg
ENST00000479394.2:n.712G>A
ENST00000672352.1:c.1216G>A ENSP00000500876.1:p.Gly406Arg
ENST00000672652.1:c.1560G>A
ENST00000348925.2:c.1636G>A ENSP00000314649.3:p.Gly546Arg
ENST00000357578.7:c.1597G>A ENSP00000350191.3:p.Gly533Arg
ENST00000479394.1:n.712G>A
ENST00000491546.5:c.1513G>A ENSP00000417687.1:p.Gly505Arg
ENST00000492697.1:n.363G>A
NM_001080.3:c.1597G>A MANE Select NP_001071.1:p.Gly533Arg
NM_170740.1:c.1636G>A NP_733936.1:p.Gly546Arg
NM_001368954.1:c.1453G>A NP_001355883.1:p.Gly485Arg
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