Canonical Allele Identifier: CA2573052082
Gene: RHO HGNC NCBI

Linked Data

ClinVar Variation Id: 1313046
ClinVar RCV Id: RCV001768997
dbSNP Id: rs2108750429

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.129532530C>A , CM000665.2:g.129532530C>A GRCh38
NC_000003.11:g.129251373C>A , CM000665.1:g.129251373C>A GRCh37
NC_000003.10:g.130734063C>A NCBI36
NG_009115.1:g.8892C>A

Transcript Alleles

HGVS Amino-acid change
ENST00000296271.4:c.697-3C>A MANE Select ENSP00000296271.3:n.697-3C>A
ENST00000296271.3:c.697-3C>A ENSP00000296271.3:n.697-3C>A
NM_000539.3:c.697-3C>A MANE Select NP_000530.1:n.697-3C>A