Canonical Allele Identifier: CA212673114
Gene: HOGA1 HGNC NCBI

Linked Data

ClinVar Variation Id: 2495082
ClinVar RCV Id: RCV003211382
dbSNP Id: rs375436098

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.97599806G>C , CM000672.2:g.97599806G>C GRCh38
NC_000010.10:g.99359563G>C , CM000672.1:g.99359563G>C GRCh37
NC_000010.9:g.99349553G>C NCBI36
NG_027922.1:g.20462G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000370646.9:c.595G>C MANE Select ENSP00000359680.4:p.Gly199Arg
ENST00000370642.4:c.5G>C
ENST00000370646.8:c.595G>C ENSP00000359680.4:p.Gly199Arg
ENST00000370647.8:c.212-2051G>C ENSP00000359681.4:n.212-2051G>C
ENST00000370649.3:c.212-2051G>C ENSP00000359683.3:n.212-2051G>C
ENST00000465608.1:n.1439G>C
NM_001134670.1:c.212-2051G>C NP_001128142.1:n.212-2051G>C
NM_138413.3:c.595G>C NP_612422.2:p.Gly199Arg
NM_138413.4:c.595G>C MANE Select NP_612422.2:p.Gly199Arg
NM_001134670.2:c.212-2051G>C NP_001128142.1:n.212-2051G>C