Canonical Allele Identifier: CA354499324

Gene: RHO

Linked Data

• ClinVar Variation Id: 827826
• ClinVar RCV Id: RCV001027721
• dbSNP Id: rs1578280614
• MyVariant Identifiers: chr3:g.129251134T>A (hg19) ; chr3:g.129532291T>A (hg38)

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid change
ENST00000296271.4:c.571T>A MANE Select	ENSP00000296271.3:p.Tyr191Asn
ENST00000296271.3:c.571T>A	ENSP00000296271.3:p.Tyr191Asn
NM_000539.3:c.571T>A MANE Select	NP_000530.1:p.Tyr191Asn