Canonical Allele Identifier: CA898753006
Gene: RHO HGNC NCBI

Linked Data

ClinVar Variation Id: 1353684
ClinVar RCV Id: RCV001863545
dbSNP Id: rs1271669044
MyVariant Identifiers: chr3:g.129251100del (hg19) chr3:g.129532257del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.129532260del , CM000665.2:g.129532260del GRCh38
NC_000003.11:g.129251103del , CM000665.1:g.129251103del GRCh37
NC_000003.10:g.130733793del NCBI36
NG_009115.1:g.8622del

Transcript Alleles

HGVS Amino-acid change
ENST00000296271.4:c.540del MANE Select ENSP00000296271.3:p.Glu181ArgfsTer?
ENST00000296271.3:c.540del ENSP00000296271.3:p.Glu181ArgfsTer?
NM_000539.3:c.540del MANE Select NP_000530.1:p.Glu181ArgfsTer?
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Search 100 bp 3'