Canonical Allele Identifier: CA915941575
Gene: RHO HGNC NCBI

Linked Data

ClinVar Variation Id: 810718
ClinVar RCV Id: RCV000999545
dbSNP Id: rs1578281625
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.129533650_129533651del , CM000665.2:g.129533650_129533651del GRCh38
NC_000003.11:g.129252493_129252494del , CM000665.1:g.129252493_129252494del GRCh37
NC_000003.10:g.130735183_130735184del NCBI36
NG_009115.1:g.10012_10013del

Transcript Alleles

HGVS Amino-acid change
ENST00000296271.4:c.979_980del MANE Select ENSP00000296271.3:p.Pro327ThrfsTer3
ENST00000296271.3:c.979_980del ENSP00000296271.3:p.Pro327ThrfsTer3
NM_000539.3:c.979_980del MANE Select NP_000530.1:p.Pro327ThrfsTer3
Search 100 bp 5'
Search 100 bp 3'