Canonical Allele Identifier: CA113814
Gene: HOGA1 HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 31
ClinVar RCV Id: RCV000000048
dbSNP Id: rs267606762

User contributed link-outs

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.97598852C>T , CM000672.2:g.97598852C>T GRCh38
NC_000010.10:g.99358609C>T , CM000672.1:g.99358609C>T GRCh37
NC_000010.9:g.99348599C>T NCBI36
NG_027922.1:g.19508C>T

Transcript Alleles

HGVS Amino-acid change
NM_001134670.1:c.212-3005C>T VV NP_001128142.1:p.=
NM_138413.3:c.289C>T VV NP_612422.2:p.Arg97Cys
NM_138413.4:c.289C>T VV MANE Preferred NP_612422.2:p.Arg97Cys
ENST00000370646.8:c.289C>T ENSP00000359680.4:p.Arg97Cys
ENST00000370647.8:c.212-3005C>T ENSP00000359681.4:p.=
ENST00000370649.3:c.212-3005C>T ENSP00000359683.3:p.=
ENST00000465608.1:n.670C>T