Canonical Allele Identifier: CA354496401
Gene: RHO HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.129528960T>G , CM000665.2:g.129528960T>G GRCh38
NC_000003.11:g.129247803T>G , CM000665.1:g.129247803T>G GRCh37
NC_000003.10:g.130730493T>G NCBI36
NG_009115.1:g.5322T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000296271.4:c.227T>G MANE Select ENSP00000296271.3:p.Leu76Arg
ENST00000296271.3:c.227T>G ENSP00000296271.3:p.Leu76Arg
NM_000539.3:c.227T>G MANE Select NP_000530.1:p.Leu76Arg