Canonical Allele Identifier: CA354470389
Gene: RHO HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.129532633T>C , CM000665.2:g.129532633T>C GRCh38
NC_000003.11:g.129251476T>C , CM000665.1:g.129251476T>C GRCh37
NC_000003.10:g.130734166T>C NCBI36
NG_009115.1:g.8995T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000296271.4:c.797T>C MANE Select ENSP00000296271.3:p.Val266Ala
ENST00000296271.3:c.797T>C ENSP00000296271.3:p.Val266Ala
NM_000539.3:c.797T>C MANE Select NP_000530.1:p.Val266Ala