Canonical Allele Identifier: CA354470169
Gene: RHO HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.129532533G>A , CM000665.2:g.129532533G>A GRCh38
NC_000003.11:g.129251376G>A , CM000665.1:g.129251376G>A GRCh37
NC_000003.10:g.130734066G>A NCBI36
NG_009115.1:g.8895G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000296271.4:c.697G>A MANE Select ENSP00000296271.3:p.Ala233Thr
ENST00000296271.3:c.697G>A ENSP00000296271.3:p.Ala233Thr
NM_000539.3:c.697G>A MANE Select NP_000530.1:p.Ala233Thr