Canonical Allele Identifier: CA256672
Gene: RHO HGNC NCBI

Linked Data

ClinVar Variation Id: 13025
dbSNP Id: rs104893776

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.129532253A>G , CM000665.2:g.129532253A>G GRCh38
NC_000003.11:g.129251096A>G , CM000665.1:g.129251096A>G GRCh37
NC_000003.10:g.130733786A>G NCBI36
NG_009115.1:g.8615A>G

Transcript Alleles

HGVS Amino-acid change
ENST00000296271.4:c.533A>G MANE Select ENSP00000296271.3:p.Tyr178Cys
ENST00000296271.3:c.533A>G ENSP00000296271.3:p.Tyr178Cys
NM_000539.3:c.533A>G MANE Select NP_000530.1:p.Tyr178Cys