Canonical Allele Identifier: CA256674

Gene: RHO

Linked Data

• ClinVar Variation Id: 13027
• ClinVar RCV Id: RCV001074697 ; RCV000013901
• dbSNP Id: rs28933993
• MyVariant Identifiers: chr3:g.129251195A>C (hg19) ; chr3:g.129532352A>C (hg38)
• PubMed: PMID:1765377

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.129532352A>C , CM000665.2:g.129532352A>C	GRCh38
NC_000003.11:g.129251195A>C , CM000665.1:g.129251195A>C	GRCh37
NC_000003.10:g.130733885A>C	NCBI36
NG_009115.1:g.8714A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000296271.4:c.632A>C MANE Select	ENSP00000296271.3:p.His211Pro
ENST00000296271.3:c.632A>C	ENSP00000296271.3:p.His211Pro
NM_000539.3:c.632A>C MANE Select	NP_000530.1:p.His211Pro