Canonical Allele Identifier: CA212658836
Gene: HOGA1 HGNC NCBI
MyVariant.info:
GRCh38 chr10:g.97584912G>A
GRCh37 chr10:g.99344669G>A
Revel Score:
ENST00000370647 0.278
ENST00000370646 (MANE Select) 0.278
ENST00000555577 0.278
ENST00000370649 0.278
gnomAD v2:
10:99344669 G / A
gnomAD v4:
chr10-97584912-G-A
Joint Max Group AF 0.00006614 (AMR)
Exomes Max Group AF 0.00008864 (AMR)
ClinVar RCV:
RCV002998212
ClinVar Variation:
2375402
dbSNP:
267606763
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Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.97584912G>A , CM000672.2:g.97584912G>A GRCh38
NC_000010.10:g.99344669G>A , CM000672.1:g.99344669G>A GRCh37
NC_000010.9:g.99334659G>A NCBI36
NG_027922.1:g.5568G>A
NG_034079.1:g.17472G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000370646.9:c.209G>A MANE Select ENSP00000359680.4:p.Arg70Gln
ENST00000370646.8:c.209G>A ENSP00000359680.4:p.Arg70Gln
ENST00000370647.8:c.209G>A ENSP00000359681.4:p.Arg70Gln
ENST00000370649.3:c.209G>A ENSP00000359683.3:p.Arg70Gln
ENST00000465608.1:n.590G>A
NM_001134670.1:c.209G>A NP_001128142.1:p.Arg70Gln
NM_138413.3:c.209G>A NP_612422.2:p.Arg70Gln
NM_138413.4:c.209G>A MANE Select NP_612422.2:p.Arg70Gln
NM_001134670.2:c.209G>A NP_001128142.1:p.Arg70Gln
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