Canonical Allele Identifier: CA203957
Gene: HOGA1 HGNC NCBI
MyVariant.info:
GRCh38 chr10:g.97601884C>A
GRCh37 chr10:g.99361641C>A
Revel Score:
ENST00000370647 0.929
ENST00000370646 (MANE Select) 0.929
ENST00000555577 0.929
ENST00000370649 0.929
ClinVar RCV:
RCV000186481
ClinVar Variation:
204274
dbSNP:
796052085
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.97601884C>A , CM000672.2:g.97601884C>A GRCh38
NC_000010.10:g.99361641C>A , CM000672.1:g.99361641C>A GRCh37
NC_000010.9:g.99351631C>A NCBI36
NG_027922.1:g.22540C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000370646.9:c.728C>A MANE Select ENSP00000359680.4:p.Ala243Asp
ENST00000370642.4:c.138C>A
ENST00000370646.8:c.728C>A ENSP00000359680.4:p.Ala243Asp
ENST00000370647.8:c.239C>A ENSP00000359681.4:p.Ala80Asp
ENST00000370649.3:c.239C>A ENSP00000359683.3:p.Ala80Asp
NM_001134670.1:c.239C>A NP_001128142.1:p.Ala80Asp
NM_138413.3:c.728C>A NP_612422.2:p.Ala243Asp
NM_138413.4:c.728C>A MANE Select NP_612422.2:p.Ala243Asp
NM_001134670.2:c.239C>A NP_001128142.1:p.Ala80Asp
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