Canonical Allele Identifier: CA1053435568
Gene: RHO HGNC NCBI

Linked Data

dbSNP Id: rs60120581
gnomAD v3: 3-129530533-A-AACACACACACACACACACACACACACAC
gnomAD v4: 3-129530533-A-AACACACACACACACACACACACACACAC
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.129530541_129530568dup , CM000665.2:g.129530541_129530568dup GRCh38
NC_000003.11:g.129249384_129249411dup , CM000665.1:g.129249384_129249411dup GRCh37
NC_000003.10:g.130732074_130732101dup NCBI36
NG_009115.1:g.6903_6930dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000296271.4:c.362-335_362-308dup MANE Select ENSP00000296271.3:n.362-335_362-308dup
ENST00000296271.3:c.362-335_362-308dup ENSP00000296271.3:n.362-335_362-308dup
NM_000539.3:c.362-335_362-308dup MANE Select NP_000530.1:n.362-335_362-308dup
Search 100 bp 5'
Search 100 bp 3'