Canonical Allele Identifier: CA2607050
Gene: RHO HGNC NCBI

Linked Data

ClinVar Variation Id: 866051
ClinVar RCV Id: RCV001073770 RCV001862809
dbSNP Id: rs370401948
ExAC: 3:129247634 G / A
gnomAD v2: 3-129247634-G-A
gnomAD v3: 3-129528791-G-A
gnomAD v4: 3-129528791-G-A
MyVariant Identifiers: chr3:g.129247634G>A (hg19) chr3:g.129528791G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.129528791G>A , CM000665.2:g.129528791G>A GRCh38
NC_000003.11:g.129247634G>A , CM000665.1:g.129247634G>A GRCh37
NC_000003.10:g.130730324G>A NCBI36
NG_009115.1:g.5153G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000296271.4:c.58G>A MANE Select ENSP00000296271.3:p.Val20Ile
ENST00000296271.3:c.58G>A ENSP00000296271.3:p.Val20Ile
NM_000539.3:c.58G>A MANE Select NP_000530.1:p.Val20Ile
Search 100 bp 5'
Search 100 bp 3'