Canonical Allele Identifier: CA354470391
Gene: RHO HGNC NCBI

Linked Data

ClinVar Variation Id: 853413
ClinVar RCV Id: RCV001058214
dbSNP Id: rs2084789550
MyVariant Identifiers: chr3:g.129251478C>A (hg19) chr3:g.129532635C>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.129532635C>A , CM000665.2:g.129532635C>A GRCh38
NC_000003.11:g.129251478C>A , CM000665.1:g.129251478C>A GRCh37
NC_000003.10:g.130734168C>A NCBI36
NG_009115.1:g.8997C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000296271.4:c.799C>A MANE Select ENSP00000296271.3:p.Pro267Thr
ENST00000296271.3:c.799C>A ENSP00000296271.3:p.Pro267Thr
NM_000539.3:c.799C>A MANE Select NP_000530.1:p.Pro267Thr
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