Canonical Allele Identifier: CA2607045
Gene: RHO HGNC NCBI

Linked Data

ClinVar Variation Id: 2074594
ClinVar RCV Id: RCV002976331
dbSNP Id: rs753585848
ExAC: 3:129247627 G / A
gnomAD v2: 3-129247627-G-A
gnomAD v4: 3-129528784-G-A
COSMIC: COSM5602206
MyVariant Identifiers: chr3:g.129247627G>A (hg19) chr3:g.129528784G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.129528784G>A , CM000665.2:g.129528784G>A GRCh38
NC_000003.11:g.129247627G>A , CM000665.1:g.129247627G>A GRCh37
NC_000003.10:g.130730317G>A NCBI36
NG_009115.1:g.5146G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000296271.4:c.51G>A MANE Select ENSP00000296271.3:p.Thr17=
ENST00000296271.3:c.51G>A ENSP00000296271.3:p.Thr17=
NM_000539.3:c.51G>A MANE Select NP_000530.1:p.Thr17=
Search 100 bp 5'
Search 100 bp 3'