Canonical Allele Identifier: CA354470178
Gene: RHO HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.129532537C>A , CM000665.2:g.129532537C>A GRCh38
NC_000003.11:g.129251380C>A , CM000665.1:g.129251380C>A GRCh37
NC_000003.10:g.130734070C>A NCBI36
NG_009115.1:g.8899C>A

Transcript Alleles

HGVS Amino-acid change
ENST00000296271.4:c.701C>A MANE Select ENSP00000296271.3:p.Ala234Asp
ENST00000296271.3:c.701C>A ENSP00000296271.3:p.Ala234Asp
NM_000539.3:c.701C>A MANE Select NP_000530.1:p.Ala234Asp