Canonical Allele Identifier: CA270025

Gene: RHO

Linked Data

• ClinVar Variation Id: 143081
• ClinVar RCV Id: RCV000132600 ; RCV001384606 ; RCV003888544
• dbSNP Id: rs527236100
• COSMIC: COSM4983669
• MyVariant Identifiers: chr3:g.129251125G>A (hg19) ; chr3:g.129532282G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.129532282G>A , CM000665.2:g.129532282G>A	GRCh38
NC_000003.11:g.129251125G>A , CM000665.1:g.129251125G>A	GRCh37
NC_000003.10:g.130733815G>A	NCBI36
NG_009115.1:g.8644G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000296271.4:c.562G>A MANE Select	ENSP00000296271.3:p.Gly188Arg
ENST00000296271.3:c.562G>A	ENSP00000296271.3:p.Gly188Arg
NM_000539.3:c.562G>A MANE Select	NP_000530.1:p.Gly188Arg