Canonical Allele Identifier: CA2607151
Gene: RHO HGNC NCBI

Linked Data

ClinVar Variation Id: 2628032
ClinVar RCV Id: RCV003389582
dbSNP Id: rs766196737
ExAC: 3:129249757 G / A
gnomAD v2: 3-129249757-G-A
gnomAD v3: 3-129530914-G-A
gnomAD v4: 3-129530914-G-A
MyVariant Identifiers: chr3:g.129249757G>A (hg19) chr3:g.129530914G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.129530914G>A , CM000665.2:g.129530914G>A GRCh38
NC_000003.11:g.129249757G>A , CM000665.1:g.129249757G>A GRCh37
NC_000003.10:g.130732447G>A NCBI36
NG_009115.1:g.7276G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000296271.4:c.400G>A MANE Select ENSP00000296271.3:p.Glu134Lys
ENST00000296271.3:c.400G>A ENSP00000296271.3:p.Glu134Lys
NM_000539.3:c.400G>A MANE Select NP_000530.1:p.Glu134Lys
Search 100 bp 5'
Search 100 bp 3'