Canonical Allele Identifier: CA256689

Gene: RHO

Linked Data

• ClinVar Variation Id: 13049
• ClinVar RCV Id: RCV000013924 ; RCV001381859
• dbSNP Id: rs104893793
• MyVariant Identifiers: chr3:g.129249848C>A (hg19) ; chr3:g.129531005C>A (hg38)
• PubMed: PMID:8088850

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.129531005C>A , CM000665.2:g.129531005C>A	GRCh38
NC_000003.11:g.129249848C>A , CM000665.1:g.129249848C>A	GRCh37
NC_000003.10:g.130732538C>A	NCBI36
NG_009115.1:g.7367C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000296271.4:c.491C>A MANE Select	ENSP00000296271.3:p.Ala164Glu
ENST00000296271.3:c.491C>A	ENSP00000296271.3:p.Ala164Glu
NM_000539.3:c.491C>A MANE Select	NP_000530.1:p.Ala164Glu