Canonical Allele Identifier: CA354499314
Gene: RHO HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.129532290C>A , CM000665.2:g.129532290C>A GRCh38
NC_000003.11:g.129251133C>A , CM000665.1:g.129251133C>A GRCh37
NC_000003.10:g.130733823C>A NCBI36
NG_009115.1:g.8652C>A

Transcript Alleles

HGVS Amino-acid change
ENST00000296271.4:c.570C>A MANE Select ENSP00000296271.3:p.Asp190Glu
ENST00000296271.3:c.570C>A ENSP00000296271.3:p.Asp190Glu
NM_000539.3:c.570C>A MANE Select NP_000530.1:p.Asp190Glu