Canonical Allele Identifier: CA2607252
Gene: RHO HGNC NCBI

Linked Data

ClinVar Variation Id: 343281
ClinVar RCV Id: RCV000329636 RCV000386443 RCV001456280
dbSNP Id: rs55915536
ExAC: 3:129251271 G / A
gnomAD v2: 3-129251271-G-A
gnomAD v3: 3-129532428-G-A
gnomAD v4: 3-129532428-G-A
MyVariant Identifiers: chr3:g.129251271G>A (hg19) chr3:g.129532428G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.129532428G>A , CM000665.2:g.129532428G>A GRCh38
NC_000003.11:g.129251271G>A , CM000665.1:g.129251271G>A GRCh37
NC_000003.10:g.130733961G>A NCBI36
NG_009115.1:g.8790G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000296271.4:c.696+12G>A MANE Select ENSP00000296271.3:n.696+12G>A
ENST00000296271.3:c.696+12G>A ENSP00000296271.3:n.696+12G>A
NM_000539.3:c.696+12G>A MANE Select NP_000530.1:n.696+12G>A
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