Canonical Allele Identifier: CA1053435566

Gene: RHO

Linked Data

• dbSNP Id: rs60120581
• gnomAD v3: 3-129530533-A-AACACACACACACACACACACACACACACAC
• gnomAD v4: 3-129530533-A-AACACACACACACACACACACACACACACAC

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.129530539_129530568dup , CM000665.2:g.129530539_129530568dup	GRCh38
NC_000003.11:g.129249382_129249411dup , CM000665.1:g.129249382_129249411dup	GRCh37
NC_000003.10:g.130732072_130732101dup	NCBI36
NG_009115.1:g.6901_6930dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000296271.4:c.362-337_362-308dup MANE Select	ENSP00000296271.3:n.362-337_362-308dup
ENST00000296271.3:c.362-337_362-308dup	ENSP00000296271.3:n.362-337_362-308dup
NM_000539.3:c.362-337_362-308dup MANE Select	NP_000530.1:n.362-337_362-308dup