Canonical Allele Identifier: CA354496114
Gene: RHO HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.129528921T>A , CM000665.2:g.129528921T>A GRCh38
NC_000003.11:g.129247764T>A , CM000665.1:g.129247764T>A GRCh37
NC_000003.10:g.130730454T>A NCBI36
NG_009115.1:g.5283T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000296271.4:c.188T>A MANE Select ENSP00000296271.3:p.Val63Asp
ENST00000296271.3:c.188T>A ENSP00000296271.3:p.Val63Asp
NM_000539.3:c.188T>A MANE Select NP_000530.1:p.Val63Asp