Canonical Allele Identifier: CA256682
Gene: RHO HGNC NCBI

Linked Data

ClinVar Variation Id: 13037
dbSNP Id: rs28933395

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.129528891C>G , CM000665.2:g.129528891C>G GRCh38
NC_000003.11:g.129247734C>G , CM000665.1:g.129247734C>G GRCh37
NC_000003.10:g.130730424C>G NCBI36
NG_009115.1:g.5253C>G

Transcript Alleles

HGVS Amino-acid change
ENST00000296271.4:c.158C>G MANE Select ENSP00000296271.3:p.Pro53Arg
ENST00000296271.3:c.158C>G ENSP00000296271.3:p.Pro53Arg
NM_000539.3:c.158C>G MANE Select NP_000530.1:p.Pro53Arg