Canonical Allele Identifier: CA10602881
Gene: RHO HGNC NCBI

Linked Data

ClinVar Variation Id: 279882
ClinVar RCV Id: RCV000299725 RCV001073685
dbSNP Id: rs886041233
MyVariant Identifiers: chr3:g.129249761_129249762delinsTT (hg19) chr3:g.129530918_129530919delinsTT (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.129530918_129530919delinsTT , CM000665.2:g.129530918_129530919delinsTT GRCh38
NC_000003.11:g.129249761_129249762delinsTT , CM000665.1:g.129249761_129249762delinsTT GRCh37
NC_000003.10:g.130732451_130732452delinsTT NCBI36
NG_009115.1:g.7280_7281delinsTT

Transcript Alleles

HGVS Amino-acid Change
ENST00000296271.4:c.404_405delinsTT MANE Select ENSP00000296271.3:p.Arg135Leu
ENST00000296271.3:c.404_405delinsTT ENSP00000296271.3:p.Arg135Leu
NM_000539.3:c.404_405delinsTT MANE Select NP_000530.1:p.Arg135Leu
Search 100 bp 5'
Search 100 bp 3'