Canonical Allele Identifier: CA256664

Gene: RHO

Linked Data

• ClinVar Variation Id: 13016
• ClinVar RCV Id: RCV001074373 ; RCV001384460 ; RCV000013890
• dbSNP Id: rs28933394
• gnomAD v4: 3-129528906-C-G
• MyVariant Identifiers: chr3:g.129247749C>G (hg19) ; chr3:g.129528906C>G (hg38)
• PubMed: PMID:1882937 ; PMID:1929926 ; PMID:1985460 ; PMID:2215617 ; PMID:2333895

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.129528906C>G , CM000665.2:g.129528906C>G	GRCh38
NC_000003.11:g.129247749C>G , CM000665.1:g.129247749C>G	GRCh37
NC_000003.10:g.130730439C>G	NCBI36
NG_009115.1:g.5268C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000296271.4:c.173C>G MANE Select	ENSP00000296271.3:p.Thr58Arg
ENST00000296271.3:c.173C>G	ENSP00000296271.3:p.Thr58Arg
NM_000539.3:c.173C>G MANE Select	NP_000530.1:p.Thr58Arg