Canonical Allele Identifier: CA113818
Gene: HOGA1 HGNC NCBI
MyVariant.info:
GRCh38 chr10:g.97601925T>G
GRCh37 chr10:g.99361682T>G
Revel Score:
ENST00000370647 0.762
ENST00000370646 (MANE Select) 0.762
ENST00000555577 0.762
ENST00000370649 0.762
ENST00000370642 0.458
gnomAD v2:
10:99361682 T / G
gnomAD v3:
10:97601925 T / G
gnomAD v4:
chr10-97601925-T-G
Joint Max Group AF 0.00044275 (EAS)
Genomes Max Group AF 0.00050458 (EAS)
Exomes Max Group AF 0.00037506 (EAS)
ClinVar RCV:
RCV000000051
RCV000994489
ClinVar Variation:
34
dbSNP:
267606764
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.97601925T>G , CM000672.2:g.97601925T>G GRCh38
NC_000010.10:g.99361682T>G , CM000672.1:g.99361682T>G GRCh37
NC_000010.9:g.99351672T>G NCBI36
NG_027922.1:g.22581T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000370646.9:c.769T>G MANE Select ENSP00000359680.4:p.Cys257Gly
ENST00000370642.4:c.179T>G
ENST00000370646.8:c.769T>G ENSP00000359680.4:p.Cys257Gly
ENST00000370647.8:c.280T>G ENSP00000359681.4:p.Cys94Gly
ENST00000370649.3:c.280T>G ENSP00000359683.3:p.Cys94Gly
NM_001134670.1:c.280T>G NP_001128142.1:p.Cys94Gly
NM_138413.3:c.769T>G NP_612422.2:p.Cys257Gly
NM_138413.4:c.769T>G MANE Select NP_612422.2:p.Cys257Gly
NM_001134670.2:c.280T>G NP_001128142.1:p.Cys94Gly
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