Canonical Allele Identifier: CA435769252
Gene: RHO HGNC NCBI

Linked Data

MyVariant Identifiers: chr3:g.129251600C>A (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.129532757C>A , CM000665.2:g.129532757C>A GRCh38
NC_000003.11:g.129251600C>A , CM000665.1:g.129251600C>A GRCh37
NC_000003.10:g.130734290C>A NCBI36
NG_009115.1:g.9119C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000296271.4:c.921C>A MANE Select ENSP00000296271.3:p.Ile307=
ENST00000296271.3:c.921C>A ENSP00000296271.3:p.Ile307=
NM_000539.3:c.921C>A MANE Select NP_000530.1:p.Ile307=