Canonical Allele Identifier: CA354498352

Gene: RHO

Linked Data

• dbSNP Id: rs1433023778
• gnomAD v2: 3-129249814-G-A
• MyVariant Identifiers: chr3:g.129249814G>A (hg19) ; chr3:g.129530971G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.129530971G>A , CM000665.2:g.129530971G>A	GRCh38
NC_000003.11:g.129249814G>A , CM000665.1:g.129249814G>A	GRCh37
NC_000003.10:g.130732504G>A	NCBI36
NG_009115.1:g.7333G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000296271.4:c.457G>A MANE Select	ENSP00000296271.3:p.Ala153Thr
ENST00000296271.3:c.457G>A	ENSP00000296271.3:p.Ala153Thr
NM_000539.3:c.457G>A MANE Select	NP_000530.1:p.Ala153Thr