Canonical Allele Identifier: CA2607047
Gene: RHO HGNC NCBI

Linked Data

ClinVar Variation Id: 625297
ClinVar RCV Id: RCV000767356 RCV001003166 RCV001366656
dbSNP Id: rs200946638
ExAC: 3:129247629 G / A
gnomAD v2: 3-129247629-G-A
gnomAD v3: 3-129528786-G-A
gnomAD v4: 3-129528786-G-A
MyVariant Identifiers: chr3:g.129247629G>A (hg19) chr3:g.129528786G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.129528786G>A , CM000665.2:g.129528786G>A GRCh38
NC_000003.11:g.129247629G>A , CM000665.1:g.129247629G>A GRCh37
NC_000003.10:g.130730319G>A NCBI36
NG_009115.1:g.5148G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000296271.4:c.53G>A MANE Select ENSP00000296271.3:p.Gly18Asp
ENST00000296271.3:c.53G>A ENSP00000296271.3:p.Gly18Asp
NM_000539.3:c.53G>A MANE Select NP_000530.1:p.Gly18Asp
Search 100 bp 5'
Search 100 bp 3'