Canonical Allele Identifier: CA203959
Gene: HOGA1 HGNC NCBI

Linked Data

ClinVar Variation Id: 204275
ClinVar RCV Id: RCV000186482
dbSNP Id: rs755562733
ExAC: 10:99361646 G / A
gnomAD v2: 10-99361646-G-A
gnomAD v3: 10-97601889-G-A
gnomAD v4: 10-97601889-G-A
MyVariant Identifiers: chr10:g.99361646G>A (hg19) chr10:g.97601889G>A (hg38)
PubMed: PMID:22781098
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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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