Canonical Allele Identifier: CA256672

Gene: RHO

Linked Data

• ClinVar Variation Id: 13025
• ClinVar RCV Id: RCV000013899 ; RCV001229671 ; RCV000787683
• dbSNP Id: rs104893776
• gnomAD v4: 3-129532253-A-G
• MyVariant Identifiers: chr3:g.129251096A>G (hg19) ; chr3:g.129532253A>G (hg38)
• PubMed: PMID:1783387 ; PMID:1862076

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.129532253A>G , CM000665.2:g.129532253A>G	GRCh38
NC_000003.11:g.129251096A>G , CM000665.1:g.129251096A>G	GRCh37
NC_000003.10:g.130733786A>G	NCBI36
NG_009115.1:g.8615A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000296271.4:c.533A>G MANE Select	ENSP00000296271.3:p.Tyr178Cys
ENST00000296271.3:c.533A>G	ENSP00000296271.3:p.Tyr178Cys
NM_000539.3:c.533A>G MANE Select	NP_000530.1:p.Tyr178Cys