Canonical Allele Identifier: CA354496518
Gene: RHO HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.129528981A>T , CM000665.2:g.129528981A>T GRCh38
NC_000003.11:g.129247824A>T , CM000665.1:g.129247824A>T GRCh37
NC_000003.10:g.130730514A>T NCBI36
NG_009115.1:g.5343A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000296271.4:c.248A>T MANE Select ENSP00000296271.3:p.Asp83Val
ENST00000296271.3:c.248A>T ENSP00000296271.3:p.Asp83Val
NM_000539.3:c.248A>T MANE Select NP_000530.1:p.Asp83Val