Canonical Allele Identifier: CA256683
Gene: RHO HGNC NCBI

Linked Data

ClinVar Variation Id: 13038
dbSNP Id: rs104893773

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.129529049G>A , CM000665.2:g.129529049G>A GRCh38
NC_000003.11:g.129247892G>A , CM000665.1:g.129247892G>A GRCh37
NC_000003.10:g.130730582G>A NCBI36
NG_009115.1:g.5411G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000296271.4:c.316G>A MANE Select ENSP00000296271.3:p.Gly106Arg
ENST00000296271.3:c.316G>A ENSP00000296271.3:p.Gly106Arg
NM_000539.3:c.316G>A MANE Select NP_000530.1:p.Gly106Arg