Canonical Allele Identifier: CA358695
Gene: RHO HGNC NCBI

Linked Data

ClinVar Variation Id: 29875
dbSNP Id: rs869320618

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.129530996G>A , CM000665.2:g.129530996G>A GRCh38
NC_000003.11:g.129249839G>A , CM000665.1:g.129249839G>A GRCh37
NC_000003.10:g.130732529G>A NCBI36
NG_009115.1:g.7358G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000296271.4:c.482G>A MANE Select ENSP00000296271.3:p.Trp161Ter
ENST00000296271.3:c.482G>A ENSP00000296271.3:p.Trp161Ter
NM_000539.3:c.482G>A MANE Select NP_000530.1:p.Trp161Ter