Canonical Allele Identifier: CA212673114

Gene: HOGA1

Linked Data

• ClinVar Variation Id: 2495082
• ClinVar RCV Id: RCV003211382
• dbSNP Id: rs375436098
• MyVariant Identifiers: chr10:g.99359563G>C (hg19) ; chr10:g.97599806G>C (hg38)

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