Canonical Allele Identifier: CA354498745
Gene: RHO HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.129531029T>G , CM000665.2:g.129531029T>G GRCh38
NC_000003.11:g.129249872T>G , CM000665.1:g.129249872T>G GRCh37
NC_000003.10:g.130732562T>G NCBI36
NG_009115.1:g.7391T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000296271.4:c.515T>G MANE Select ENSP00000296271.3:p.Leu172Arg
ENST00000296271.3:c.515T>G ENSP00000296271.3:p.Leu172Arg
NM_000539.3:c.515T>G MANE Select NP_000530.1:p.Leu172Arg