Canonical Allele Identifier: CA16604469
Gene: RHO HGNC NCBI

Linked Data

ClinVar Variation Id: 387316
ClinVar RCV Id: RCV000439200
dbSNP Id: rs1057522760
gnomAD v4: 3-129530919-G-T
MyVariant Identifiers: chr3:g.129249762G>T (hg19) chr3:g.129530919G>T (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.129530919G>T , CM000665.2:g.129530919G>T GRCh38
NC_000003.11:g.129249762G>T , CM000665.1:g.129249762G>T GRCh37
NC_000003.10:g.130732452G>T NCBI36
NG_009115.1:g.7281G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000296271.4:c.405G>T MANE Select ENSP00000296271.3:p.Arg135=
ENST00000296271.3:c.405G>T ENSP00000296271.3:p.Arg135=
NM_000539.3:c.405G>T MANE Select NP_000530.1:p.Arg135=
Search 100 bp 5'
Search 100 bp 3'