Canonical Allele Identifier: CA2607150
Gene: RHO HGNC NCBI

Linked Data

ClinVar Variation Id: 902117
ClinVar RCV Id: RCV001148424 RCV001148423 RCV001324702 RCV001535704
dbSNP Id: rs372812523
ExAC: 3:129249756 C / A
gnomAD v2: 3-129249756-C-A
gnomAD v3: 3-129530913-C-A
gnomAD v4: 3-129530913-C-A
MyVariant Identifiers: chr3:g.129249756C>A (hg19) chr3:g.129530913C>A (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.129530913C>A , CM000665.2:g.129530913C>A GRCh38
NC_000003.11:g.129249756C>A , CM000665.1:g.129249756C>A GRCh37
NC_000003.10:g.130732446C>A NCBI36
NG_009115.1:g.7275C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000296271.4:c.399C>A MANE Select ENSP00000296271.3:p.Ile133=
ENST00000296271.3:c.399C>A ENSP00000296271.3:p.Ile133=
NM_000539.3:c.399C>A MANE Select NP_000530.1:p.Ile133=
Search 100 bp 5'
Search 100 bp 3'