Canonical Allele Identifier: CA256679

Gene: RHO

Linked Data

• ClinVar Variation Id: 13033
• ClinVar RCV Id: RCV001074816 ; RCV001857346 ; RCV000013908
• dbSNP Id: rs104893780
• MyVariant Identifiers: chr3:g.129251107G>A (hg19) ; chr3:g.129532264G>A (hg38)
• PubMed: PMID:1897520

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.129532264G>A , CM000665.2:g.129532264G>A	GRCh38
NC_000003.11:g.129251107G>A , CM000665.1:g.129251107G>A	GRCh37
NC_000003.10:g.130733797G>A	NCBI36
NG_009115.1:g.8626G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000296271.4:c.544G>A MANE Select	ENSP00000296271.3:p.Gly182Ser
ENST00000296271.3:c.544G>A	ENSP00000296271.3:p.Gly182Ser
NM_000539.3:c.544G>A MANE Select	NP_000530.1:p.Gly182Ser