Canonical Allele Identifier: CA2573136496
Gene: RHO HGNC NCBI

Linked Data

ClinVar Variation Id: 1601735
ClinVar RCV Id: RCV002127469
dbSNP Id: rs749155432

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.129532431dup , CM000665.2:g.129532431dup GRCh38
NC_000003.11:g.129251274dup , CM000665.1:g.129251274dup GRCh37
NC_000003.10:g.130733964dup NCBI36
NG_009115.1:g.8793dup

Transcript Alleles

HGVS Amino-acid change
ENST00000296271.4:c.696+15dup MANE Select ENSP00000296271.3:n.696+15dup
ENST00000296271.3:c.696+15dup ENSP00000296271.3:n.696+15dup
NM_000539.3:c.696+15dup MANE Select NP_000530.1:n.696+15dup