Canonical Allele Identifier: CA354470934
Gene: RHO HGNC NCBI

Linked Data

ClinVar Variation Id: 1349242
ClinVar RCV Id: RCV002035161
dbSNP Id: rs1578281100

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.129532744C>T , CM000665.2:g.129532744C>T GRCh38
NC_000003.11:g.129251587C>T , CM000665.1:g.129251587C>T GRCh37
NC_000003.10:g.130734277C>T NCBI36
NG_009115.1:g.9106C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000296271.4:c.908C>T MANE Select ENSP00000296271.3:p.Pro303Leu
ENST00000296271.3:c.908C>T ENSP00000296271.3:p.Pro303Leu
NM_000539.3:c.908C>T MANE Select NP_000530.1:p.Pro303Leu