Canonical Allele Identifier: CA354496894
Gene: RHO HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.129529056C>A , CM000665.2:g.129529056C>A GRCh38
NC_000003.11:g.129247899C>A , CM000665.1:g.129247899C>A GRCh37
NC_000003.10:g.130730589C>A NCBI36
NG_009115.1:g.5418C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000296271.4:c.323C>A MANE Select ENSP00000296271.3:p.Thr108Lys
ENST00000296271.3:c.323C>A ENSP00000296271.3:p.Thr108Lys
NM_000539.3:c.323C>A MANE Select NP_000530.1:p.Thr108Lys