Canonical Allele Identifier: CA377967322
Gene: HOGA1 HGNC NCBI
MyVariant.info:
GRCh38 chr10:g.97584837C>G
GRCh37 chr10:g.99344594C>G
Revel Score:
ENST00000370647 0.909
ENST00000370646 (MANE Select) 0.909
ENST00000555577 0.909
ENST00000370649 0.909
gnomAD v2:
10:99344594 C / G
gnomAD v3:
10:97584837 C / G
gnomAD v4:
chr10-97584837-C-G
Joint Max Group AF 0.00001327 (AMR)
Genomes Max Group AF 0.00000488 (NFE)
Exomes Max Group AF 0.00000741 (AMR)
ClinVar RCV:
RCV001102571
RCV003718319
ClinVar Variation:
877105
dbSNP:
764396564
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.97584837C>G , CM000672.2:g.97584837C>G GRCh38
NC_000010.10:g.99344594C>G , CM000672.1:g.99344594C>G GRCh37
NC_000010.9:g.99334584C>G NCBI36
NG_027922.1:g.5493C>G
NG_034079.1:g.17397C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000370646.9:c.134C>G MANE Select ENSP00000359680.4:p.Pro45Arg
ENST00000370646.8:c.134C>G ENSP00000359680.4:p.Pro45Arg
ENST00000370647.8:c.134C>G ENSP00000359681.4:p.Pro45Arg
ENST00000370649.3:c.134C>G ENSP00000359683.3:p.Pro45Arg
ENST00000465608.1:n.515C>G
NM_001134670.1:c.134C>G NP_001128142.1:p.Pro45Arg
NM_138413.3:c.134C>G NP_612422.2:p.Pro45Arg
NM_138413.4:c.134C>G MANE Select NP_612422.2:p.Pro45Arg
NM_001134670.2:c.134C>G NP_001128142.1:p.Pro45Arg
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