Canonical Allele Identifier: CA354495583

Gene: RHO

Linked Data

• ClinVar Variation Id: 437998
• ClinVar RCV Id: RCV000505117 ; RCV001296378
• dbSNP Id: rs1553780837
• MyVariant Identifiers: chr3:g.129247659A>G (hg19) ; chr3:g.129528816A>G (hg38)
• PubMed: PMID:28041643

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.129528816A>G , CM000665.2:g.129528816A>G	GRCh38
NC_000003.11:g.129247659A>G , CM000665.1:g.129247659A>G	GRCh37
NC_000003.10:g.130730349A>G	NCBI36
NG_009115.1:g.5178A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000296271.4:c.83A>G MANE Select	ENSP00000296271.3:p.Gln28Arg
ENST00000296271.3:c.83A>G	ENSP00000296271.3:p.Gln28Arg
NM_000539.3:c.83A>G MANE Select	NP_000530.1:p.Gln28Arg