Canonical Allele Identifier: CA256673

Gene: RHO

Linked Data

• ClinVar Variation Id: 13026
• ClinVar RCV Id: RCV000013900 ; RCV001386998 ; RCV003887863
• dbSNP Id: rs104893777
• MyVariant Identifiers: chr3:g.129251132A>G (hg19) ; chr3:g.129532289A>G (hg38)
• PubMed: PMID:1862076

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.129532289A>G , CM000665.2:g.129532289A>G	GRCh38
NC_000003.11:g.129251132A>G , CM000665.1:g.129251132A>G	GRCh37
NC_000003.10:g.130733822A>G	NCBI36
NG_009115.1:g.8651A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000296271.4:c.569A>G MANE Select	ENSP00000296271.3:p.Asp190Gly
ENST00000296271.3:c.569A>G	ENSP00000296271.3:p.Asp190Gly
NM_000539.3:c.569A>G MANE Select	NP_000530.1:p.Asp190Gly