Canonical Allele Identifier: CA256677

Gene: RHO

Linked Data

• ClinVar Variation Id: 13030
• ClinVar RCV Id: RCV000013905 ; RCV002513028
• dbSNP Id: rs29001653
• MyVariant Identifiers: chr3:g.129251565A>G (hg19) ; chr3:g.129532722A>G (hg38)
• PubMed: PMID:1356370 ; PMID:1765377

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