Canonical Allele Identifier: CA1401211298
Gene: RHO HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.129532400T= , CM000665.2:g.129532400T= GRCh38
NC_000003.11:g.129251243T= , CM000665.1:g.129251243T= GRCh37
NC_000003.10:g.130733933T= NCBI36
NG_009115.1:g.8762T=

Transcript Alleles

HGVS Amino-acid Change
ENST00000296271.4:c.680T= MANE Select ENSP00000296271.3:p.Val227=
ENST00000296271.3:c.680T= ENSP00000296271.3:p.Val227=
NM_000539.3:c.680T= MANE Select NP_000530.1:p.Val227=