Canonical Allele Identifier: CA354470373
Gene: RHO HGNC NCBI

Linked Data

MyVariant Identifiers: chr3:g.129251470G>T (hg19) chr3:g.129532627G>T (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.129532627G>T , CM000665.2:g.129532627G>T GRCh38
NC_000003.11:g.129251470G>T , CM000665.1:g.129251470G>T GRCh37
NC_000003.10:g.130734160G>T NCBI36
NG_009115.1:g.8989G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000296271.4:c.791G>T MANE Select ENSP00000296271.3:p.Cys264Phe
ENST00000296271.3:c.791G>T ENSP00000296271.3:p.Cys264Phe
NM_000539.3:c.791G>T MANE Select NP_000530.1:p.Cys264Phe
Search 100 bp 5'
Search 100 bp 3'