Canonical Allele Identifier: CA354497834
Gene: RHO HGNC NCBI

Linked Data

ClinVar Variation Id: 2121824
ClinVar RCV Id: RCV003049350

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.129530878G>T , CM000665.2:g.129530878G>T GRCh38
NC_000003.11:g.129249721G>T , CM000665.1:g.129249721G>T GRCh37
NC_000003.10:g.130732411G>T NCBI36
NG_009115.1:g.7240G>T

Transcript Alleles

HGVS Amino-acid change
ENST00000296271.4:c.364G>T MANE Select ENSP00000296271.3:p.Glu122Ter
ENST00000296271.3:c.364G>T ENSP00000296271.3:p.Glu122Ter
NM_000539.3:c.364G>T MANE Select NP_000530.1:p.Glu122Ter