Canonical Allele Identifier: CA354496945
Gene: RHO HGNC NCBI

Linked Data

ClinVar Variation Id: 1451122
ClinVar RCV Id: RCV002007136
dbSNP Id: rs2108749341
MyVariant Identifiers: chr3:g.129247913G>A (hg19) chr3:g.129529070G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.129529070G>A , CM000665.2:g.129529070G>A GRCh38
NC_000003.11:g.129247913G>A , CM000665.1:g.129247913G>A GRCh37
NC_000003.10:g.130730603G>A NCBI36
NG_009115.1:g.5432G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000296271.4:c.337G>A MANE Select ENSP00000296271.3:p.Glu113Lys
ENST00000296271.3:c.337G>A ENSP00000296271.3:p.Glu113Lys
NM_000539.3:c.337G>A MANE Select NP_000530.1:p.Glu113Lys
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