Canonical Allele Identifier: CA2607070
Gene: RHO HGNC NCBI

Linked Data

ClinVar Variation Id: 343274
dbSNP Id: rs149079952

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.129528885G>C , CM000665.2:g.129528885G>C GRCh38
NC_000003.11:g.129247728G>C , CM000665.1:g.129247728G>C GRCh37
NC_000003.10:g.130730418G>C NCBI36
NG_009115.1:g.5247G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000296271.4:c.152G>C MANE Select ENSP00000296271.3:p.Gly51Ala
ENST00000296271.3:c.152G>C ENSP00000296271.3:p.Gly51Ala
NM_000539.3:c.152G>C MANE Select NP_000530.1:p.Gly51Ala