Canonical Allele Identifier: CA2607082
Gene: RHO HGNC NCBI

Linked Data

ClinVar Variation Id: 1056038
ClinVar RCV Id: RCV001364807
dbSNP Id: rs146936681
ExAC: 3:129247763 G / A
gnomAD v2: 3-129247763-G-A
gnomAD v3: 3-129528920-G-A
gnomAD v4: 3-129528920-G-A
MyVariant Identifiers: chr3:g.129247763G>A (hg19) chr3:g.129528920G>A (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.129528920G>A , CM000665.2:g.129528920G>A GRCh38
NC_000003.11:g.129247763G>A , CM000665.1:g.129247763G>A GRCh37
NC_000003.10:g.130730453G>A NCBI36
NG_009115.1:g.5282G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000296271.4:c.187G>A MANE Select ENSP00000296271.3:p.Val63Ile
ENST00000296271.3:c.187G>A ENSP00000296271.3:p.Val63Ile
NM_000539.3:c.187G>A MANE Select NP_000530.1:p.Val63Ile
Search 100 bp 5'
Search 100 bp 3'