Canonical Allele Identifier: CA916082603
Gene: RHO HGNC NCBI

Linked Data

ClinVar Variation Id: 866835
ClinVar RCV Id: RCV003718311
dbSNP Id: rs2084757329
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Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.129528905_129528906delinsTA , CM000665.2:g.129528905_129528906delinsTA GRCh38
NC_000003.11:g.129247748_129247749delinsTA , CM000665.1:g.129247748_129247749delinsTA GRCh37
NC_000003.10:g.130730438_130730439delinsTA NCBI36
NG_009115.1:g.5267_5268delinsTA

Transcript Alleles

HGVS Amino-acid change
ENST00000296271.4:c.172_173delinsTA MANE Select ENSP00000296271.3:p.Thr58Ter
ENST00000296271.3:c.172_173delinsTA ENSP00000296271.3:p.Thr58Ter
NM_000539.3:c.172_173delinsTA MANE Select NP_000530.1:p.Thr58Ter
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