Canonical Allele Identifier: CA354469712
Gene: RHO HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.129532301T>C , CM000665.2:g.129532301T>C GRCh38
NC_000003.11:g.129251144T>C , CM000665.1:g.129251144T>C GRCh37
NC_000003.10:g.130733834T>C NCBI36
NG_009115.1:g.8663T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000296271.4:c.581T>C MANE Select ENSP00000296271.3:p.Leu194Pro
ENST00000296271.3:c.581T>C ENSP00000296271.3:p.Leu194Pro
NM_000539.3:c.581T>C MANE Select NP_000530.1:p.Leu194Pro