Canonical Allele Identifier: CA5634052
Gene: HOGA1 HGNC NCBI
MyVariant.info:
GRCh38 chr10:g.97598900G>C
GRCh37 chr10:g.99358657G>C
Revel Score:
ENST00000370646 (MANE Select) 0.748
gnomAD v2:
10:99358657 G / C
gnomAD v3:
10:97598900 G / C
gnomAD v4:
chr10-97598900-G-C
Joint Max Group AF 0.00004372 (AFR)
Genomes Max Group AF 0.00004737 (AFR)
Exomes Max Group AF 0.00000989 (AFR)
ClinVar RCV:
RCV005044126
ClinVar Variation:
3598753
dbSNP:
150702945
JSON-LD

Genomic Alleles

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

Transcript Alleles

HGVS Amino-acid Change
ENST00000370646.9:c.337G>C MANE Select ENSP00000359680.4:p.Glu113Gln
ENST00000370646.8:c.337G>C ENSP00000359680.4:p.Glu113Gln
ENST00000370647.8:c.212-2957G>C ENSP00000359681.4:n.212-2957G>C
ENST00000370649.3:c.212-2957G>C ENSP00000359683.3:n.212-2957G>C
ENST00000465608.1:n.718G>C
NM_001134670.1:c.212-2957G>C NP_001128142.1:n.212-2957G>C
NM_138413.3:c.337G>C NP_612422.2:p.Glu113Gln
NM_138413.4:c.337G>C MANE Select NP_612422.2:p.Glu113Gln
NM_001134670.2:c.212-2957G>C NP_001128142.1:n.212-2957G>C
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