Canonical Allele Identifier: CA354496404
Gene: RHO HGNC NCBI

Linked Data

Genomic Alleles

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

Transcript Alleles

HGVS Amino-acid change
ENST00000296271.4:c.227T>A MANE Select ENSP00000296271.3:p.Leu76Gln
ENST00000296271.3:c.227T>A ENSP00000296271.3:p.Leu76Gln
NM_000539.3:c.227T>A MANE Select NP_000530.1:p.Leu76Gln