Canonical Allele Identifier: CA354495787

Gene: RHO

Linked Data

• ClinVar Variation Id: 984774
• ClinVar RCV Id: RCV001265172 ; RCV001384459
• dbSNP Id: rs2084756915
• gnomAD v4: 3-129528849-T-G
• MyVariant Identifiers: chr3:g.129247692T>G (hg19) ; chr3:g.129528849T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.129528849T>G , CM000665.2:g.129528849T>G	GRCh38
NC_000003.11:g.129247692T>G , CM000665.1:g.129247692T>G	GRCh37
NC_000003.10:g.130730382T>G	NCBI36
NG_009115.1:g.5211T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000296271.4:c.116T>G MANE Select	ENSP00000296271.3:p.Met39Arg
ENST00000296271.3:c.116T>G	ENSP00000296271.3:p.Met39Arg
NM_000539.3:c.116T>G MANE Select	NP_000530.1:p.Met39Arg