Canonical Allele Identifier: CA354471182
Gene: RHO HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.129533661C>A , CM000665.2:g.129533661C>A GRCh38
NC_000003.11:g.129252504C>A , CM000665.1:g.129252504C>A GRCh37
NC_000003.10:g.130735194C>A NCBI36
NG_009115.1:g.10023C>A

Transcript Alleles

HGVS Amino-acid change
ENST00000296271.4:c.990C>A MANE Select ENSP00000296271.3:p.Asp330Glu
ENST00000296271.3:c.990C>A ENSP00000296271.3:p.Asp330Glu
NM_000539.3:c.990C>A MANE Select NP_000530.1:p.Asp330Glu