Canonical Allele Identifier: CA354498718

Gene: RHO

Linked Data

• ClinVar Variation Id: 437997
• ClinVar RCV Id: RCV000505129 ; RCV000987330 ; RCV001381860
• dbSNP Id: rs1553781176
• gnomAD v4: 3-129531023-C-G
• MyVariant Identifiers: chr3:g.129249866C>G (hg19) ; chr3:g.129531023C>G (hg38)
• PubMed: PMID:11139241 ; PMID:28041643

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.129531023C>G , CM000665.2:g.129531023C>G	GRCh38
NC_000003.11:g.129249866C>G , CM000665.1:g.129249866C>G	GRCh37
NC_000003.10:g.130732556C>G	NCBI36
NG_009115.1:g.7385C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000296271.4:c.509C>G MANE Select	ENSP00000296271.3:p.Pro170Arg
ENST00000296271.3:c.509C>G	ENSP00000296271.3:p.Pro170Arg
NM_000539.3:c.509C>G MANE Select	NP_000530.1:p.Pro170Arg