Canonical Allele Identifier: CA354496812

Gene: RHO

Linked Data

• ClinVar Variation Id: 1451425
• ClinVar RCV Id: RCV002007212
• dbSNP Id: rs2084758866
• MyVariant Identifiers: chr3:g.129247882C>G (hg19) ; chr3:g.129529039C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.129529039C>G , CM000665.2:g.129529039C>G	GRCh38
NC_000003.11:g.129247882C>G , CM000665.1:g.129247882C>G	GRCh37
NC_000003.10:g.130730572C>G	NCBI36
NG_009115.1:g.5401C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000296271.4:c.306C>G MANE Select	ENSP00000296271.3:p.Tyr102Ter
ENST00000296271.3:c.306C>G	ENSP00000296271.3:p.Tyr102Ter
NM_000539.3:c.306C>G MANE Select	NP_000530.1:p.Tyr102Ter