Canonical Allele Identifier: CA275168

Gene: RHO

Linked Data

• ClinVar Variation Id: 196282
• ClinVar RCV Id: RCV000177081 ; RCV000504731 ; RCV000724301 ; RCV001074893
• dbSNP Id: rs775557680
• COSMIC: COSM6050483
• MyVariant Identifiers: chr3:g.129251104G>A (hg19) ; chr3:g.129532261G>A (hg38)
• PubMed: PMID:1833777 ; PMID:23891399 ; PMID:28041643

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.129532261G>A , CM000665.2:g.129532261G>A	GRCh38
NC_000003.11:g.129251104G>A , CM000665.1:g.129251104G>A	GRCh37
NC_000003.10:g.130733794G>A	NCBI36
NG_009115.1:g.8623G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000296271.4:c.541G>A MANE Select	ENSP00000296271.3:p.Glu181Lys
ENST00000296271.3:c.541G>A	ENSP00000296271.3:p.Glu181Lys
NM_000539.3:c.541G>A MANE Select	NP_000530.1:p.Glu181Lys