Canonical Allele Identifier: CA1401209153
Gene: RHO HGNC NCBI

Linked Data

ClinVar Variation Id: 1956354
ClinVar RCV Id: RCV002700787
dbSNP Id: rs2084774540
gnomAD v4: 3-129530856-G-A
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Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.129530856G>A , CM000665.2:g.129530856G>A GRCh38
NC_000003.11:g.129249699G>A , CM000665.1:g.129249699G>A GRCh37
NC_000003.10:g.130732389G>A NCBI36
NG_009115.1:g.7218G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000296271.4:c.362-20G>A MANE Select ENSP00000296271.3:n.362-20G>A
ENST00000296271.3:c.362-20G>A ENSP00000296271.3:n.362-20G>A
NM_000539.3:c.362-20G>A MANE Select NP_000530.1:n.362-20G>A
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