Canonical Allele Identifier: CA435769202
Gene: RHO HGNC NCBI

Linked Data

dbSNP Id: rs2084792758
MyVariant Identifiers: chr3:g.129251540C>T (hg19)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.129532697C>T , CM000665.2:g.129532697C>T GRCh38
NC_000003.11:g.129251540C>T , CM000665.1:g.129251540C>T GRCh37
NC_000003.10:g.130734230C>T NCBI36
NG_009115.1:g.9059C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000296271.4:c.861C>T MANE Select ENSP00000296271.3:p.Phe287=
ENST00000296271.3:c.861C>T ENSP00000296271.3:p.Phe287=
NM_000539.3:c.861C>T MANE Select NP_000530.1:p.Phe287=
Search 100 bp 5'
Search 100 bp 3'