Canonical Allele Identifier: CA203959
Gene: HOGA1 HGNC NCBI
MyVariant.info:
GRCh38 chr10:g.97601889G>A
GRCh37 chr10:g.99361646G>A
Revel Score:
ENST00000370642 0.206
ENST00000370647 0.614
ENST00000370646 (MANE Select) 0.614
ENST00000555577 0.614
ENST00000370649 0.614
gnomAD v2:
10:99361646 G / A
gnomAD v3:
10:97601889 G / A
gnomAD v4:
chr10-97601889-G-A
Joint Max Group AF 0.00000359 (NFE)
Genomes Max Group AF 0.0000117 (NFE)
Exomes Max Group AF 0.00000194 (NFE)
ClinVar RCV:
RCV000186482
RCV002513972
ClinVar Variation:
204275
dbSNP:
755562733
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Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.97601889G>A , CM000672.2:g.97601889G>A GRCh38
NC_000010.10:g.99361646G>A , CM000672.1:g.99361646G>A GRCh37
NC_000010.9:g.99351636G>A NCBI36
NG_027922.1:g.22545G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000370646.9:c.733G>A MANE Select ENSP00000359680.4:p.Val245Ile
ENST00000370642.4:c.143G>A
ENST00000370646.8:c.733G>A ENSP00000359680.4:p.Val245Ile
ENST00000370647.8:c.244G>A ENSP00000359681.4:p.Val82Ile
ENST00000370649.3:c.244G>A ENSP00000359683.3:p.Val82Ile
NM_001134670.1:c.244G>A NP_001128142.1:p.Val82Ile
NM_138413.3:c.733G>A NP_612422.2:p.Val245Ile
NM_138413.4:c.733G>A MANE Select NP_612422.2:p.Val245Ile
NM_001134670.2:c.244G>A NP_001128142.1:p.Val82Ile
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