Canonical Allele Identifier: CA3656756
Gene: ALDH5A1 HGNC NCBI
ClinVar RCV:
RCV000224315
RCV000524751
RCV001266933
ClinVar Variation:
235512
dbSNP:
375628463
gnomAD v2:
6:24515471 G / A
gnomAD v3:
6:24515243 G / A
gnomAD v4:
chr6-24515243-G-A
Joint Max Group AF 0.00022226 (NFE)
Genomes Max Group AF 0.00011242 (NFE)
Exomes Max Group AF 0.00022499 (NFE)
MyVariant.info:
GRCh38 chr6:g.24515243G>A
GRCh37 chr6:g.24515471G>A
Revel Score:
ENST00000357578 (MANE Select) 0.865
ENST00000546278 0.865
ENST00000491546 0.865
ENST00000348925 0.865
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Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.24515243G>A , CM000668.2:g.24515243G>A GRCh38
NC_000006.11:g.24515471G>A , CM000668.1:g.24515471G>A GRCh37
NC_000006.10:g.24623450G>A NCBI36
NG_008161.1:g.25275G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000357578.8:c.803G>A MANE Select ENSP00000350191.3:p.Gly268Glu
ENST00000672352.1:c.490-5158G>A ENSP00000500876.1:n.490-5158G>A
ENST00000672557.1:c.721G>A
ENST00000672619.1:n.163G>A
ENST00000672652.1:c.766G>A
ENST00000675422.1:n.1563G>A
ENST00000348925.2:c.842G>A ENSP00000314649.3:p.Gly281Glu
ENST00000357578.7:c.803G>A ENSP00000350191.3:p.Gly268Glu
ENST00000491546.5:c.719G>A ENSP00000417687.1:p.Gly240Glu
NM_001080.3:c.803G>A MANE Select NP_001071.1:p.Gly268Glu
NM_170740.1:c.842G>A NP_733936.1:p.Gly281Glu
NM_001368954.1:c.727-5158G>A NP_001355883.1:n.727-5158G>A
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