Canonical Allele Identifier: CA354497976

Gene: RHO

Linked Data

• MyVariant Identifiers: chr3:g.129249745G>A (hg19) ; chr3:g.129530902G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.129530902G>A , CM000665.2:g.129530902G>A	GRCh38
NC_000003.11:g.129249745G>A , CM000665.1:g.129249745G>A	GRCh37
NC_000003.10:g.130732435G>A	NCBI36
NG_009115.1:g.7264G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000296271.4:c.388G>A MANE Select	ENSP00000296271.3:p.Val130Ile
ENST00000296271.3:c.388G>A	ENSP00000296271.3:p.Val130Ile
NM_000539.3:c.388G>A MANE Select	NP_000530.1:p.Val130Ile