Canonical Allele Identifier: CA354499293

Gene: RHO

Linked Data

• MyVariant Identifiers: chr3:g.129251129T>A (hg19) ; chr3:g.129532286T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.129532286T>A , CM000665.2:g.129532286T>A	GRCh38
NC_000003.11:g.129251129T>A , CM000665.1:g.129251129T>A	GRCh37
NC_000003.10:g.130733819T>A	NCBI36
NG_009115.1:g.8648T>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000296271.4:c.566T>A MANE Select	ENSP00000296271.3:p.Ile189Asn
ENST00000296271.3:c.566T>A	ENSP00000296271.3:p.Ile189Asn
NM_000539.3:c.566T>A MANE Select	NP_000530.1:p.Ile189Asn