Canonical Allele Identifier: CA354498855
Gene: RHO HGNC NCBI

Linked Data

ClinVar Variation Id: 1514040
ClinVar RCV Id: RCV002026479
dbSNP Id: rs2108750013
MyVariant Identifiers: chr3:g.129249888G>C (hg19) chr3:g.129531045G>C (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.129531045G>C , CM000665.2:g.129531045G>C GRCh38
NC_000003.11:g.129249888G>C , CM000665.1:g.129249888G>C GRCh37
NC_000003.10:g.130732578G>C NCBI36
NG_009115.1:g.7407G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000296271.4:c.530+1G>C MANE Select ENSP00000296271.3:n.530+1G>C
ENST00000296271.3:c.530+1G>C ENSP00000296271.3:n.530+1G>C
NM_000539.3:c.530+1G>C MANE Select NP_000530.1:n.530+1G>C
Search 100 bp 5'
Search 100 bp 3'