Canonical Allele Identifier: CA354469894

Gene: RHO

Linked Data

• ClinVar Variation Id: 870954
• ClinVar RCV Id: RCV001090664
• dbSNP Id: rs28933993
• MyVariant Identifiers: chr3:g.129251195A>G (hg19) ; chr3:g.129532352A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.129532352A>G , CM000665.2:g.129532352A>G	GRCh38
NC_000003.11:g.129251195A>G , CM000665.1:g.129251195A>G	GRCh37
NC_000003.10:g.130733885A>G	NCBI36
NG_009115.1:g.8714A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000296271.4:c.632A>G MANE Select	ENSP00000296271.3:p.His211Arg
ENST00000296271.3:c.632A>G	ENSP00000296271.3:p.His211Arg
NM_000539.3:c.632A>G MANE Select	NP_000530.1:p.His211Arg