Canonical Allele Identifier: CA354499331

Gene: RHO

Linked Data

• ClinVar Variation Id: 984786
• ClinVar RCV Id: RCV001265199 ; RCV001370917
• dbSNP Id: rs1578280614
• MyVariant Identifiers: chr3:g.129251134T>G (hg19) ; chr3:g.129532291T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.129532291T>G , CM000665.2:g.129532291T>G	GRCh38
NC_000003.11:g.129251134T>G , CM000665.1:g.129251134T>G	GRCh37
NC_000003.10:g.130733824T>G	NCBI36
NG_009115.1:g.8653T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000296271.4:c.571T>G MANE Select	ENSP00000296271.3:p.Tyr191Asp
ENST00000296271.3:c.571T>G	ENSP00000296271.3:p.Tyr191Asp
NM_000539.3:c.571T>G MANE Select	NP_000530.1:p.Tyr191Asp