Canonical Allele Identifier: CA435769099
Gene: RHO HGNC NCBI

Linked Data

MyVariant Identifiers: chr3:g.129251468C>T (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.129532625C>T , CM000665.2:g.129532625C>T GRCh38
NC_000003.11:g.129251468C>T , CM000665.1:g.129251468C>T GRCh37
NC_000003.10:g.130734158C>T NCBI36
NG_009115.1:g.8987C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000296271.4:c.789C>T MANE Select ENSP00000296271.3:p.Ile263=
ENST00000296271.3:c.789C>T ENSP00000296271.3:p.Ile263=
NM_000539.3:c.789C>T MANE Select NP_000530.1:p.Ile263=