Canonical Allele Identifier: CA203979
Gene: HOGA1 HGNC NCBI
MyVariant.info:
GRCh38 chr10:g.97611648G>A
GRCh37 chr10:g.99371405G>A
Revel Score:
ENST00000370647 0.831
ENST00000370646 (MANE Select) 0.831
gnomAD v2:
10:99371405 G / A
gnomAD v3:
10:97611648 G / A
gnomAD v4:
chr10-97611648-G-A
Joint Max Group AF 0.00001995 (NFE)
Genomes Max Group AF 0.00000488 (NFE)
Exomes Max Group AF 0.00001998 (NFE)
ClinVar RCV:
RCV000186491
RCV003556231
ClinVar Variation:
204284
dbSNP:
777046879
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Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.97611648G>A , CM000672.2:g.97611648G>A GRCh38
NC_000010.10:g.99371405G>A , CM000672.1:g.99371405G>A GRCh37
NC_000010.9:g.99361395G>A NCBI36
NG_027922.1:g.32304G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000370646.9:c.973G>A MANE Select ENSP00000359680.4:p.Gly325Ser
ENST00000370646.8:c.973G>A ENSP00000359680.4:p.Gly325Ser
ENST00000370647.8:c.484G>A ENSP00000359681.4:p.Gly162Ser
ENST00000370649.3:c.345+9658G>A ENSP00000359683.3:n.345+9658G>A
NM_001134670.1:c.484G>A NP_001128142.1:p.Gly162Ser
NM_138413.3:c.973G>A NP_612422.2:p.Gly325Ser
NM_138413.4:c.973G>A MANE Select NP_612422.2:p.Gly325Ser
NM_001134670.2:c.484G>A NP_001128142.1:p.Gly162Ser
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