Canonical Allele Identifier: CA256661

Gene: RHO

Linked Data

• ClinVar Variation Id: 13013
• ClinVar RCV Id: RCV000490234 ; RCV000763095 ; RCV001075876 ; RCV000013887
• dbSNP Id: rs104893768
• gnomAD v4: 3-129528801-C-A
• MyVariant Identifiers: chr3:g.129247644C>A (hg19) ; chr3:g.129528801C>A (hg38)
• PubMed: PMID:1987955 ; PMID:1987956 ; PMID:2137202 ; PMID:2239971 ; PMID:12091393 ; PMID:14769795 ; PMID:15509574

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.129528801C>A , CM000665.2:g.129528801C>A	GRCh38
NC_000003.11:g.129247644C>A , CM000665.1:g.129247644C>A	GRCh37
NC_000003.10:g.130730334C>A	NCBI36
NG_009115.1:g.5163C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000296271.4:c.68C>A MANE Select	ENSP00000296271.3:p.Pro23His
ENST00000296271.3:c.68C>A	ENSP00000296271.3:p.Pro23His
NM_000539.3:c.68C>A MANE Select	NP_000530.1:p.Pro23His