Canonical Allele Identifier: CA354495882
Gene: RHO HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.129528866T>A , CM000665.2:g.129528866T>A GRCh38
NC_000003.11:g.129247709T>A , CM000665.1:g.129247709T>A GRCh37
NC_000003.10:g.130730399T>A NCBI36
NG_009115.1:g.5228T>A

Transcript Alleles

HGVS Amino-acid change
ENST00000296271.4:c.133T>A MANE Select ENSP00000296271.3:p.Phe45Ile
ENST00000296271.3:c.133T>A ENSP00000296271.3:p.Phe45Ile
NM_000539.3:c.133T>A MANE Select NP_000530.1:p.Phe45Ile