Canonical Allele Identifier: CA256667

Gene: RHO

Linked Data

• ClinVar Variation Id: 13020
• ClinVar RCV Id: RCV000013894 ; RCV001198366
• dbSNP Id: rs104893771
• MyVariant Identifiers: chr3:g.129247836T>A (hg19) ; chr3:g.129528993T>A (hg38)
• PubMed: PMID:1862076

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.129528993T>A , CM000665.2:g.129528993T>A	GRCh38
NC_000003.11:g.129247836T>A , CM000665.1:g.129247836T>A	GRCh37
NC_000003.10:g.130730526T>A	NCBI36
NG_009115.1:g.5355T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000296271.4:c.260T>A MANE Select	ENSP00000296271.3:p.Val87Asp
ENST00000296271.3:c.260T>A	ENSP00000296271.3:p.Val87Asp
NM_000539.3:c.260T>A MANE Select	NP_000530.1:p.Val87Asp