Canonical Allele Identifier: CA16042497
Gene: RHO HGNC NCBI

Linked Data

ClinVar Variation Id: 373094
ClinVar RCV Id: RCV000414503
dbSNP Id: rs1057518210

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.129529092del , CM000665.2:g.129529092del GRCh38
NC_000003.11:g.129247935del , CM000665.1:g.129247935del GRCh37
NC_000003.10:g.130730625del NCBI36
NG_009115.1:g.5454del

Transcript Alleles

HGVS Amino-acid change
ENST00000296271.4:c.359del MANE Select ENSP00000296271.3:p.Gly120AlafsTer24
ENST00000296271.3:c.359del ENSP00000296271.3:p.Gly120AlafsTer24
NM_000539.3:c.359del MANE Select NP_000530.1:p.Gly120AlafsTer24