Canonical Allele Identifier: CA256681

Gene: RHO

Linked Data

• ClinVar Variation Id: 13035
• ClinVar RCV Id: RCV001234924 ; RCV001073635 ; RCV000013910
• dbSNP Id: rs104893787
• MyVariant Identifiers: chr3:g.129247905G>A (hg19) ; chr3:g.129529062G>A (hg38)
• PubMed: PMID:8088850

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.129529062G>A , CM000665.2:g.129529062G>A	GRCh38
NC_000003.11:g.129247905G>A , CM000665.1:g.129247905G>A	GRCh37
NC_000003.10:g.130730595G>A	NCBI36
NG_009115.1:g.5424G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000296271.4:c.329G>A MANE Select	ENSP00000296271.3:p.Cys110Tyr
ENST00000296271.3:c.329G>A	ENSP00000296271.3:p.Cys110Tyr
NM_000539.3:c.329G>A MANE Select	NP_000530.1:p.Cys110Tyr