Canonical Allele Identifier: CA122820

Gene: RHO

Linked Data

• ClinVar Variation Id: 13036
• ClinVar RCV Id: RCV001007976 ; RCV001074645 ; RCV000013911
• dbSNP Id: rs104893783
• ExAC: 3:129251424 G / T
• gnomAD v2: 3-129251424-G-T
• gnomAD v3: 3-129532581-G-T
• gnomAD v4: 3-129532581-G-T
• COSMIC: COSM139481
• MyVariant Identifiers: chr3:g.129251424G>T (hg19) ; chr3:g.129532581G>T (hg38)
• PubMed: PMID:1303237

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.129532581G>T , CM000665.2:g.129532581G>T	GRCh38
NC_000003.11:g.129251424G>T , CM000665.1:g.129251424G>T	GRCh37
NC_000003.10:g.130734114G>T	NCBI36
NG_009115.1:g.8943G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000296271.4:c.745G>T MANE Select	ENSP00000296271.3:p.Glu249Ter
ENST00000296271.3:c.745G>T	ENSP00000296271.3:p.Glu249Ter
NM_000539.3:c.745G>T MANE Select	NP_000530.1:p.Glu249Ter