Canonical Allele Identifier: CA354496504
Gene: RHO HGNC NCBI

Linked Data

dbSNP Id: rs1423255875

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.129528980G>A , CM000665.2:g.129528980G>A GRCh38
NC_000003.11:g.129247823G>A , CM000665.1:g.129247823G>A GRCh37
NC_000003.10:g.130730513G>A NCBI36
NG_009115.1:g.5342G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000296271.4:c.247G>A MANE Select ENSP00000296271.3:p.Asp83Asn
ENST00000296271.3:c.247G>A ENSP00000296271.3:p.Asp83Asn
NM_000539.3:c.247G>A MANE Select NP_000530.1:p.Asp83Asn