Canonical Allele Identifier: CA354496864

Gene: RHO

Linked Data

• ClinVar Variation Id: 956525
• ClinVar RCV Id: RCV001229349
• dbSNP Id: rs104893773
• MyVariant Identifiers: chr3:g.129247892G>C (hg19) ; chr3:g.129529049G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.129529049G>C , CM000665.2:g.129529049G>C	GRCh38
NC_000003.11:g.129247892G>C , CM000665.1:g.129247892G>C	GRCh37
NC_000003.10:g.130730582G>C	NCBI36
NG_009115.1:g.5411G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000296271.4:c.316G>C MANE Select	ENSP00000296271.3:p.Gly106Arg
ENST00000296271.3:c.316G>C	ENSP00000296271.3:p.Gly106Arg
NM_000539.3:c.316G>C MANE Select	NP_000530.1:p.Gly106Arg