Canonical Allele Identifier: CA354498662
Gene: RHO HGNC NCBI

Linked Data

ClinVar Variation Id: 870953
ClinVar RCV Id: RCV001090662
dbSNP Id: rs751280060
MyVariant Identifiers: chr3:g.129249858C>G (hg19) chr3:g.129531015C>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.129531015C>G , CM000665.2:g.129531015C>G GRCh38
NC_000003.11:g.129249858C>G , CM000665.1:g.129249858C>G GRCh37
NC_000003.10:g.130732548C>G NCBI36
NG_009115.1:g.7377C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000296271.4:c.501C>G MANE Select ENSP00000296271.3:p.Cys167Trp
ENST00000296271.3:c.501C>G ENSP00000296271.3:p.Cys167Trp
NM_000539.3:c.501C>G MANE Select NP_000530.1:p.Cys167Trp
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