Canonical Allele Identifier: CA256678

Gene: RHO

Linked Data

• ClinVar Variation Id: 13032
• ClinVar RCV Id: RCV000013907 ; RCV001003173 ; RCV001382064
• dbSNP Id: rs29001566
• MyVariant Identifiers: chr3:g.129252554C>G (hg19) ; chr3:g.129533711C>G (hg38)
• PubMed: PMID:1840561 ; PMID:2215617

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.129533711C>G , CM000665.2:g.129533711C>G	GRCh38
NC_000003.11:g.129252554C>G , CM000665.1:g.129252554C>G	GRCh37
NC_000003.10:g.130735244C>G	NCBI36
NG_009115.1:g.10073C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000296271.4:c.1040C>G MANE Select	ENSP00000296271.3:p.Pro347Arg
ENST00000296271.3:c.1040C>G	ENSP00000296271.3:p.Pro347Arg
NM_000539.3:c.1040C>G MANE Select	NP_000530.1:p.Pro347Arg