Canonical Allele Identifier: CA256694

Gene: RHO

Linked Data

• ClinVar Variation Id: 13053
• ClinVar RCV Id: RCV000013928 ; RCV001851840
• dbSNP Id: rs29001566
• MyVariant Identifiers: chr3:g.129252554C>A (hg19) ; chr3:g.129533711C>A (hg38)
• PubMed: PMID:8088850 ; PMID:11910130

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid change
ENST00000296271.4:c.1040C>A MANE Select	ENSP00000296271.3:p.Pro347Gln
ENST00000296271.3:c.1040C>A	ENSP00000296271.3:p.Pro347Gln
NM_000539.3:c.1040C>A MANE Select	NP_000530.1:p.Pro347Gln