Canonical Allele Identifier: CA354498741
Gene: RHO HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.129531028C>G , CM000665.2:g.129531028C>G GRCh38
NC_000003.11:g.129249871C>G , CM000665.1:g.129249871C>G GRCh37
NC_000003.10:g.130732561C>G NCBI36
NG_009115.1:g.7390C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000296271.4:c.514C>G MANE Select ENSP00000296271.3:p.Leu172Val
ENST00000296271.3:c.514C>G ENSP00000296271.3:p.Leu172Val
NM_000539.3:c.514C>G MANE Select NP_000530.1:p.Leu172Val