Canonical Allele Identifier: CA354469852
Gene: RHO HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.129532340T>A , CM000665.2:g.129532340T>A GRCh38
NC_000003.11:g.129251183T>A , CM000665.1:g.129251183T>A GRCh37
NC_000003.10:g.130733873T>A NCBI36
NG_009115.1:g.8702T>A

Transcript Alleles

HGVS Amino-acid change
ENST00000296271.4:c.620T>A MANE Select ENSP00000296271.3:p.Met207Lys
ENST00000296271.3:c.620T>A ENSP00000296271.3:p.Met207Lys
NM_000539.3:c.620T>A MANE Select NP_000530.1:p.Met207Lys