Canonical Allele Identifier: CA354497001
Gene: RHO HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.129529082G>A , CM000665.2:g.129529082G>A GRCh38
NC_000003.11:g.129247925G>A , CM000665.1:g.129247925G>A GRCh37
NC_000003.10:g.130730615G>A NCBI36
NG_009115.1:g.5444G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000296271.4:c.349G>A MANE Select ENSP00000296271.3:p.Ala117Thr
ENST00000296271.3:c.349G>A ENSP00000296271.3:p.Ala117Thr
NM_000539.3:c.349G>A MANE Select NP_000530.1:p.Ala117Thr