Canonical Allele Identifier: CA354497891
Gene: RHO HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.129530887C>G , CM000665.2:g.129530887C>G GRCh38
NC_000003.11:g.129249730C>G , CM000665.1:g.129249730C>G GRCh37
NC_000003.10:g.130732420C>G NCBI36
NG_009115.1:g.7249C>G

Transcript Alleles

HGVS Amino-acid change
ENST00000296271.4:c.373C>G MANE Select ENSP00000296271.3:p.Leu125Val
ENST00000296271.3:c.373C>G ENSP00000296271.3:p.Leu125Val
NM_000539.3:c.373C>G MANE Select NP_000530.1:p.Leu125Val