Canonical Allele Identifier: CA256677
Gene: RHO HGNC NCBI

Linked Data

ClinVar Variation Id: 13030
dbSNP Id: rs29001653

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.129532722A>G , CM000665.2:g.129532722A>G GRCh38
NC_000003.11:g.129251565A>G , CM000665.1:g.129251565A>G GRCh37
NC_000003.10:g.130734255A>G NCBI36
NG_009115.1:g.9084A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000296271.4:c.886A>G MANE Select ENSP00000296271.3:p.Lys296Glu
ENST00000296271.3:c.886A>G ENSP00000296271.3:p.Lys296Glu
NM_000539.3:c.886A>G MANE Select NP_000530.1:p.Lys296Glu