Canonical Allele Identifier: CA2607048
Gene: RHO HGNC NCBI

Linked Data

ClinVar Variation Id: 1952930
ClinVar RCV Id: RCV002672089
dbSNP Id: rs200946638

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.129528786G>C , CM000665.2:g.129528786G>C GRCh38
NC_000003.11:g.129247629G>C , CM000665.1:g.129247629G>C GRCh37
NC_000003.10:g.130730319G>C NCBI36
NG_009115.1:g.5148G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000296271.4:c.53G>C MANE Select ENSP00000296271.3:p.Gly18Ala
ENST00000296271.3:c.53G>C ENSP00000296271.3:p.Gly18Ala
NM_000539.3:c.53G>C MANE Select NP_000530.1:p.Gly18Ala