Canonical Allele Identifier: CA354496225
Gene: RHO HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.129528938C>A , CM000665.2:g.129528938C>A GRCh38
NC_000003.11:g.129247781C>A , CM000665.1:g.129247781C>A GRCh37
NC_000003.10:g.130730471C>A NCBI36
NG_009115.1:g.5300C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000296271.4:c.205C>A MANE Select ENSP00000296271.3:p.Arg69Ser
ENST00000296271.3:c.205C>A ENSP00000296271.3:p.Arg69Ser
NM_000539.3:c.205C>A MANE Select NP_000530.1:p.Arg69Ser