Canonical Allele Identifier: CA270026
Gene: RHO HGNC NCBI

Linked Data

ClinVar Variation Id: 143083
ClinVar RCV Id: RCV000132602
dbSNP Id: rs527236102
MyVariant Identifiers: chr3:g.129252491_129252494del (hg19) chr3:g.129533648_129533651del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.129533650_129533653del , CM000665.2:g.129533650_129533653del GRCh38
NC_000003.11:g.129252493_129252496del , CM000665.1:g.129252493_129252496del GRCh37
NC_000003.10:g.130735183_130735186del NCBI36
NG_009115.1:g.10012_10015del

Transcript Alleles

HGVS Amino-acid change
ENST00000296271.4:c.979_982del MANE Select ENSP00000296271.3:p.Pro327TrpfsTer?
ENST00000296271.3:c.979_982del ENSP00000296271.3:p.Pro327TrpfsTer?
NM_000539.3:c.979_982del MANE Select NP_000530.1:p.Pro327TrpfsTer?
Search 100 bp 5'
Search 100 bp 3'