Canonical Allele Identifier: CA354499233

Gene: RHO

Linked Data

• ClinVar Variation Id: 984785
• ClinVar RCV Id: RCV001265195
• dbSNP Id: rs2084785760
• MyVariant Identifiers: chr3:g.129251122T>C (hg19) ; chr3:g.129532279T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.129532279T>C , CM000665.2:g.129532279T>C	GRCh38
NC_000003.11:g.129251122T>C , CM000665.1:g.129251122T>C	GRCh37
NC_000003.10:g.130733812T>C	NCBI36
NG_009115.1:g.8641T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000296271.4:c.559T>C MANE Select	ENSP00000296271.3:p.Cys187Arg
ENST00000296271.3:c.559T>C	ENSP00000296271.3:p.Cys187Arg
NM_000539.3:c.559T>C MANE Select	NP_000530.1:p.Cys187Arg