Canonical Allele Identifier: CA354496994
Gene: RHO HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.129529081T>G , CM000665.2:g.129529081T>G GRCh38
NC_000003.11:g.129247924T>G , CM000665.1:g.129247924T>G GRCh37
NC_000003.10:g.130730614T>G NCBI36
NG_009115.1:g.5443T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000296271.4:c.348T>G MANE Select ENSP00000296271.3:p.Phe116Leu
ENST00000296271.3:c.348T>G ENSP00000296271.3:p.Phe116Leu
NM_000539.3:c.348T>G MANE Select NP_000530.1:p.Phe116Leu