Canonical Allele Identifier: CA16617826
Gene: RHO HGNC NCBI

Linked Data

ClinVar Variation Id: 419250
dbSNP Id: rs1064793749

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.129533617del , CM000665.2:g.129533617del GRCh38
NC_000003.11:g.129252460del , CM000665.1:g.129252460del GRCh37
NC_000003.10:g.130735150del NCBI36
NG_009115.1:g.9979del

Transcript Alleles

HGVS Amino-acid change
ENST00000296271.4:c.946del MANE Select ENSP00000296271.3:p.Cys316AlafsTer?
ENST00000296271.3:c.946del ENSP00000296271.3:p.Cys316AlafsTer?
NM_000539.3:c.946del MANE Select NP_000530.1:p.Cys316AlafsTer?