Canonical Allele Identifier: CA270025
Gene: RHO HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 143081
ClinVar RCV Id: RCV000132600
dbSNP Id: rs527236100

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
NM_000539.3:c.562G>A VV NP_000530.1:p.Gly188Arg
ENST00000296271.3:c.562G>A ENSP00000296271.3:p.Gly188Arg