Canonical Allele Identifier: CA1401205766
Gene: RHO HGNC NCBI

Linked Data

ClinVar Variation Id: 1009433
ClinVar RCV Id: RCV001306920
dbSNP Id: rs2084758319
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Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.129528975_129528977del , CM000665.2:g.129528975_129528977del GRCh38
NC_000003.11:g.129247818_129247820del , CM000665.1:g.129247818_129247820del GRCh37
NC_000003.10:g.130730508_130730510del NCBI36
NG_009115.1:g.5337_5339del

Transcript Alleles

HGVS Amino-acid change
ENST00000296271.4:c.242_244del MANE Select ENSP00000296271.3:p.Val81del
ENST00000296271.3:c.242_244del ENSP00000296271.3:p.Val81del
NM_000539.3:c.242_244del MANE Select NP_000530.1:p.Val81del
Search 100 bp 5'
Search 100 bp 3'