Canonical Allele Identifier: CA2607187
Gene: RHO HGNC NCBI

Linked Data

ClinVar Variation Id: 2040483
ClinVar RCV Id: RCV002886444
dbSNP Id: rs752695098
ExAC: 3:129249904 G / A
gnomAD v2: 3-129249904-G-A
gnomAD v4: 3-129531061-G-A
MyVariant Identifiers: chr3:g.129249904G>A (hg19) chr3:g.129531061G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.129531061G>A , CM000665.2:g.129531061G>A GRCh38
NC_000003.11:g.129249904G>A , CM000665.1:g.129249904G>A GRCh37
NC_000003.10:g.130732594G>A NCBI36
NG_009115.1:g.7423G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000296271.4:c.530+17G>A MANE Select ENSP00000296271.3:n.530+17G>A
ENST00000296271.3:c.530+17G>A ENSP00000296271.3:n.530+17G>A
NM_000539.3:c.530+17G>A MANE Select NP_000530.1:n.530+17G>A
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