Canonical Allele Identifier: CA354495947

Gene: RHO

Linked Data

• ClinVar Variation Id: 866399
• ClinVar RCV Id: RCV001074351 ; RCV002557910
• dbSNP Id: rs149079952
• gnomAD v3: 3-129528885-G-T
• gnomAD v4: 3-129528885-G-T
• MyVariant Identifiers: chr3:g.129247728G>T (hg19) ; chr3:g.129528885G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.129528885G>T , CM000665.2:g.129528885G>T	GRCh38
NC_000003.11:g.129247728G>T , CM000665.1:g.129247728G>T	GRCh37
NC_000003.10:g.130730418G>T	NCBI36
NG_009115.1:g.5247G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000296271.4:c.152G>T MANE Select	ENSP00000296271.3:p.Gly51Val
ENST00000296271.3:c.152G>T	ENSP00000296271.3:p.Gly51Val
NM_000539.3:c.152G>T MANE Select	NP_000530.1:p.Gly51Val