Canonical Allele Identifier: CA256686

Gene: RHO

Linked Data

• ClinVar Variation Id: 13043
• ClinVar RCV Id: RCV000013918 ; RCV001075474 ; RCV004546412
• dbSNP Id: rs104893782
• MyVariant Identifiers: chr3:g.129251183T>G (hg19) ; chr3:g.129532340T>G (hg38)
• PubMed: PMID:1302614 ; PMID:2613244

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.129532340T>G , CM000665.2:g.129532340T>G	GRCh38
NC_000003.11:g.129251183T>G , CM000665.1:g.129251183T>G	GRCh37
NC_000003.10:g.130733873T>G	NCBI36
NG_009115.1:g.8702T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000296271.4:c.620T>G MANE Select	ENSP00000296271.3:p.Met207Arg
ENST00000296271.3:c.620T>G	ENSP00000296271.3:p.Met207Arg
NM_000539.3:c.620T>G MANE Select	NP_000530.1:p.Met207Arg