Canonical Allele Identifier: CA354498773
Gene: RHO HGNC NCBI

Linked Data

ClinVar Variation Id: 1722951
ClinVar RCV Id: RCV002306058
MyVariant Identifiers: chr3:g.129249877G>C (hg19) chr3:g.129531034G>C (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.129531034G>C , CM000665.2:g.129531034G>C GRCh38
NC_000003.11:g.129249877G>C , CM000665.1:g.129249877G>C GRCh37
NC_000003.10:g.130732567G>C NCBI36
NG_009115.1:g.7396G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000296271.4:c.520G>C MANE Select ENSP00000296271.3:p.Gly174Arg
ENST00000296271.3:c.520G>C ENSP00000296271.3:p.Gly174Arg
NM_000539.3:c.520G>C MANE Select NP_000530.1:p.Gly174Arg
Search 100 bp 5'
Search 100 bp 3'