Canonical Allele Identifier: CA354499057
Gene: RHO HGNC NCBI

Linked Data

ClinVar Variation Id: 867225
ClinVar RCV Id: RCV001075883 RCV001265191 RCV001321723
dbSNP Id: rs2084785435
MyVariant Identifiers: chr3:g.129251095T>C (hg19) chr3:g.129532252T>C (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.129532252T>C , CM000665.2:g.129532252T>C GRCh38
NC_000003.11:g.129251095T>C , CM000665.1:g.129251095T>C GRCh37
NC_000003.10:g.130733785T>C NCBI36
NG_009115.1:g.8614T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000296271.4:c.532T>C MANE Select ENSP00000296271.3:p.Tyr178His
ENST00000296271.3:c.532T>C ENSP00000296271.3:p.Tyr178His
NM_000539.3:c.532T>C MANE Select NP_000530.1:p.Tyr178His
Search 100 bp 5'
Search 100 bp 3'