Canonical Allele Identifier: CA2607045

Gene: RHO

Linked Data

• ClinVar Variation Id: 2074594
• ClinVar RCV Id: RCV002976331
• dbSNP Id: rs753585848
• ExAC: 3:129247627 G / A
• gnomAD v2: 3-129247627-G-A
• gnomAD v4: 3-129528784-G-A
• COSMIC: COSM5602206
• MyVariant Identifiers: chr3:g.129247627G>A (hg19) ; chr3:g.129528784G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.129528784G>A , CM000665.2:g.129528784G>A	GRCh38
NC_000003.11:g.129247627G>A , CM000665.1:g.129247627G>A	GRCh37
NC_000003.10:g.130730317G>A	NCBI36
NG_009115.1:g.5146G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000296271.4:c.51G>A MANE Select	ENSP00000296271.3:p.Thr17=
ENST00000296271.3:c.51G>A	ENSP00000296271.3:p.Thr17=
NM_000539.3:c.51G>A MANE Select	NP_000530.1:p.Thr17=