Canonical Allele Identifier: CA270023

Gene: RHO

Linked Data

• ClinVar Variation Id: 143080
• ClinVar RCV Id: RCV000132599 ; RCV003556175 ; RCV003888543
• dbSNP Id: rs527236103
• ExAC: 3:129249877 G / A
• gnomAD v2: 3-129249877-G-A
• gnomAD v4: 3-129531034-G-A
• MyVariant Identifiers: chr3:g.129249877G>A (hg19) ; chr3:g.129531034G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.129531034G>A , CM000665.2:g.129531034G>A	GRCh38
NC_000003.11:g.129249877G>A , CM000665.1:g.129249877G>A	GRCh37
NC_000003.10:g.130732567G>A	NCBI36
NG_009115.1:g.7396G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000296271.4:c.520G>A MANE Select	ENSP00000296271.3:p.Gly174Ser
ENST00000296271.3:c.520G>A	ENSP00000296271.3:p.Gly174Ser
NM_000539.3:c.520G>A MANE Select	NP_000530.1:p.Gly174Ser