Canonical Allele Identifier: CA256687

Gene: RHO

Linked Data

• ClinVar Variation Id: 13047
• ClinVar RCV Id: RCV000013922 ; RCV001237838 ; RCV003390680
• dbSNP Id: rs104893792
• gnomAD v4: 3-129528884-G-C
• MyVariant Identifiers: chr3:g.129247727G>C (hg19) ; chr3:g.129528884G>C (hg38)
• PubMed: PMID:8088850

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.129528884G>C , CM000665.2:g.129528884G>C	GRCh38
NC_000003.11:g.129247727G>C , CM000665.1:g.129247727G>C	GRCh37
NC_000003.10:g.130730417G>C	NCBI36
NG_009115.1:g.5246G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000296271.4:c.151G>C MANE Select	ENSP00000296271.3:p.Gly51Arg
ENST00000296271.3:c.151G>C	ENSP00000296271.3:p.Gly51Arg
NM_000539.3:c.151G>C MANE Select	NP_000530.1:p.Gly51Arg