Canonical Allele Identifier: CA113816
Gene: HOGA1 HGNC NCBI
MyVariant.info:
GRCh38 chr10:g.97584912G>C
GRCh37 chr10:g.99344669G>C
Revel Score:
ENST00000370647 0.687
ENST00000370646 (MANE Select) 0.687
ENST00000555577 0.687
ENST00000370649 0.687
gnomAD v2:
10:99344669 G / C
gnomAD v3:
10:97584912 G / C
gnomAD v4:
chr10-97584912-G-C
Joint Max Group AF 7.9e-7 (NFE)
Exomes Max Group AF 7.2e-7 (NFE)
ClinVar RCV:
RCV000000050
RCV001387338
ClinVar Variation:
33
dbSNP:
267606763
JSON-LD

Genomic Alleles

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

Transcript Alleles

HGVS Amino-acid Change
ENST00000370646.9:c.209G>C MANE Select ENSP00000359680.4:p.Arg70Pro
ENST00000370646.8:c.209G>C ENSP00000359680.4:p.Arg70Pro
ENST00000370647.8:c.209G>C ENSP00000359681.4:p.Arg70Pro
ENST00000370649.3:c.209G>C ENSP00000359683.3:p.Arg70Pro
ENST00000465608.1:n.590G>C
NM_001134670.1:c.209G>C NP_001128142.1:p.Arg70Pro
NM_138413.3:c.209G>C NP_612422.2:p.Arg70Pro
NM_138413.4:c.209G>C MANE Select NP_612422.2:p.Arg70Pro
NM_001134670.2:c.209G>C NP_001128142.1:p.Arg70Pro
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