Canonical Allele Identifier: CA203948
Gene: HOGA1 HGNC NCBI
MyVariant.info:
GRCh38 chr10:g.97598900G>A
GRCh37 chr10:g.99358657G>A
Revel Score:
ENST00000370646 (MANE Select) 0.882
gnomAD v2:
10:99358657 G / A
gnomAD v4:
chr10-97598900-G-A
Joint Max Group AF 0.00001425 (SAS)
Exomes Max Group AF 0.00001583 (SAS)
ClinVar RCV:
RCV000186477
RCV002513971
ClinVar Variation:
204270
dbSNP:
150702945
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Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.97598900G>A , CM000672.2:g.97598900G>A GRCh38
NC_000010.10:g.99358657G>A , CM000672.1:g.99358657G>A GRCh37
NC_000010.9:g.99348647G>A NCBI36
NG_027922.1:g.19556G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000370646.9:c.337G>A MANE Select ENSP00000359680.4:p.Glu113Lys
ENST00000370646.8:c.337G>A ENSP00000359680.4:p.Glu113Lys
ENST00000370647.8:c.212-2957G>A ENSP00000359681.4:n.212-2957G>A
ENST00000370649.3:c.212-2957G>A ENSP00000359683.3:n.212-2957G>A
ENST00000465608.1:n.718G>A
NM_001134670.1:c.212-2957G>A NP_001128142.1:n.212-2957G>A
NM_138413.3:c.337G>A NP_612422.2:p.Glu113Lys
NM_138413.4:c.337G>A MANE Select NP_612422.2:p.Glu113Lys
NM_001134670.2:c.212-2957G>A NP_001128142.1:n.212-2957G>A
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