Canonical Allele Identifier: CA122824

Gene: RHO

Linked Data

• ClinVar Variation Id: 13046
• ClinVar RCV Id: RCV000013921 ; RCV001045970 ; RCV001265186 ; RCV003105773
• dbSNP Id: rs104893791
• ExAC: 3:129249805 G / A
• gnomAD v2: 3-129249805-G-A
• gnomAD v3: 3-129530962-G-A
• gnomAD v4: 3-129530962-G-A
• COSMIC: COSM6443778
• MyVariant Identifiers: chr3:g.129249805G>A (hg19) ; chr3:g.129530962G>A (hg38)
• PubMed: PMID:7987385 ; PMID:8317502 ; PMID:16737970

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.129530962G>A , CM000665.2:g.129530962G>A	GRCh38
NC_000003.11:g.129249805G>A , CM000665.1:g.129249805G>A	GRCh37
NC_000003.10:g.130732495G>A	NCBI36
NG_009115.1:g.7324G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000296271.4:c.448G>A MANE Select	ENSP00000296271.3:p.Glu150Lys
ENST00000296271.3:c.448G>A	ENSP00000296271.3:p.Glu150Lys
NM_000539.3:c.448G>A MANE Select	NP_000530.1:p.Glu150Lys