Canonical Allele Identifier: CA82648254

Gene: RHO

Linked Data

• dbSNP Id: rs974240725
• gnomAD v3: 3-129530709-G-GC
• gnomAD v4: 3-129530709-G-GC
• MyVariant Identifiers: chr3:g.129249552_129249553insC (hg19) ; chr3:g.129530709_129530710insC (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.129530713dup , CM000665.2:g.129530713dup	GRCh38
NC_000003.11:g.129249556dup , CM000665.1:g.129249556dup	GRCh37
NC_000003.10:g.130732246dup	NCBI36
NG_009115.1:g.7075dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000296271.4:c.362-163dup MANE Select	ENSP00000296271.3:n.362-163dup
ENST00000296271.3:c.362-163dup	ENSP00000296271.3:n.362-163dup
NM_000539.3:c.362-163dup MANE Select	NP_000530.1:n.362-163dup