Canonical Allele Identifier: CA354498612
Gene: RHO HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.129531008T>G , CM000665.2:g.129531008T>G GRCh38
NC_000003.11:g.129249851T>G , CM000665.1:g.129249851T>G GRCh37
NC_000003.10:g.130732541T>G NCBI36
NG_009115.1:g.7370T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000296271.4:c.494T>G MANE Select ENSP00000296271.3:p.Leu165Arg
ENST00000296271.3:c.494T>G ENSP00000296271.3:p.Leu165Arg
NM_000539.3:c.494T>G MANE Select NP_000530.1:p.Leu165Arg