Canonical Allele Identifier: CA354498064

Gene: RHO

Linked Data

• ClinVar Variation Id: 866105
• ClinVar RCV Id: RCV001073863 ; RCV002554684
• dbSNP Id: rs2084775038
• MyVariant Identifiers: chr3:g.129249763T>C (hg19) ; chr3:g.129530920T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.129530920T>C , CM000665.2:g.129530920T>C	GRCh38
NC_000003.11:g.129249763T>C , CM000665.1:g.129249763T>C	GRCh37
NC_000003.10:g.130732453T>C	NCBI36
NG_009115.1:g.7282T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000296271.4:c.406T>C MANE Select	ENSP00000296271.3:p.Tyr136His
ENST00000296271.3:c.406T>C	ENSP00000296271.3:p.Tyr136His
NM_000539.3:c.406T>C MANE Select	NP_000530.1:p.Tyr136His