{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA1846360706",
  "communityStandardTitle": [
    "NM_005476.7(GNE):c.647T= (p.Val216=)"
  ],
  "externalRecords": {
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/779694939",
        "rs": 779694939
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "9",
      "coordinates": [
        {
          "allele": "A",
          "end": 36236954,
          "referenceAllele": "A",
          "start": 36236953
        }
      ],
      "hgvs": [
        "NC_000009.12:g.36236954A=",
        "CM000671.2:g.36236954A="
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000057"
    },
    {
      "chromosome": "9",
      "coordinates": [
        {
          "allele": "A",
          "end": 36236951,
          "referenceAllele": "A",
          "start": 36236950
        }
      ],
      "hgvs": [
        "NC_000009.11:g.36236951A=",
        "CM000671.1:g.36236951A="
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000033"
    },
    {
      "chromosome": "9",
      "coordinates": [
        {
          "allele": "A",
          "end": 36226951,
          "referenceAllele": "A",
          "start": 36226950
        }
      ],
      "hgvs": [
        "NC_000009.10:g.36226951A="
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000009"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 45091,
          "referenceAllele": "T",
          "start": 45090
        }
      ],
      "hgvs": [
        "NG_008246.1:g.45091T="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS000977"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 774,
          "referenceAllele": "T",
          "start": 773
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023657",
      "geneNCBI_id": 10020,
      "geneSymbol": "GNE",
      "hgvs": [
        "ENST00000396594.8:c.740T="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000379839.3:p.Val247="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS753539",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Plus Clinical",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000396594.8:c.740T="
          },
          "RefSeq": {
            "hgvs": "NM_001128227.3:c.740T="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000379839.3:p.Val247="
          },
          "RefSeq": {
            "hgvs": "NP_001121699.1:p.Val247="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 632,
          "referenceAllele": "T",
          "start": 631
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023657",
      "geneNCBI_id": 10020,
      "geneSymbol": "GNE",
      "hgvs": [
        "ENST00000543356.7:c.470T="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000437765.3:p.Val157="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS759730"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 817,
          "referenceAllele": "T",
          "start": 816
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023657",
      "geneNCBI_id": 10020,
      "geneSymbol": "GNE",
      "hgvs": [
        "ENST00000642385.2:c.647T="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000494141.2:p.Val216="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS766712",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000642385.2:c.647T="
          },
          "RefSeq": {
            "hgvs": "NM_005476.7:c.647T="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000494141.2:p.Val216="
          },
          "RefSeq": {
            "hgvs": "NP_005467.1:p.Val216="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 868,
          "referenceAllele": "T",
          "start": 867
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023657",
      "geneNCBI_id": 10020,
      "geneSymbol": "GNE",
      "hgvs": [
        "ENST00000377902.5:c.647T="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000367134.4:p.Val216="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS271797"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 852,
          "referenceAllele": "T",
          "start": 851
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023657",
      "geneNCBI_id": 10020,
      "geneSymbol": "GNE",
      "hgvs": [
        "ENST00000396594.7:c.740T="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000379839.3:p.Val247="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS277344"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 698,
          "referenceAllele": "T",
          "start": 697
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023657",
      "geneNCBI_id": 10020,
      "geneSymbol": "GNE",
      "hgvs": [
        "ENST00000447283.6:c.647T="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000414760.2:p.Val216="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS299151"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 611,
          "endIntronDirection": "-",
          "endIntronOffset": 26243,
          "referenceAllele": "A",
          "start": 611,
          "startIntronDirection": "-",
          "startIntronOffset": 26244
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002090",
      "geneNCBI_id": 1211,
      "geneSymbol": "CLTA",
      "hgvs": [
        "ENST00000464497.5:c.486-26244A="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000419158.1:n.486-26244A="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS308313"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 577,
          "endIntronDirection": "-",
          "endIntronOffset": 2821,
          "referenceAllele": "T",
          "start": 577,
          "startIntronDirection": "-",
          "startIntronOffset": 2822
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023657",
      "geneNCBI_id": 10020,
      "geneSymbol": "GNE",
      "hgvs": [
        "ENST00000539208.5:c.440-2822T="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000445117.1:n.440-2822T="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS361731"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 688,
          "referenceAllele": "T",
          "start": 687
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023657",
      "geneNCBI_id": 10020,
      "geneSymbol": "GNE",
      "hgvs": [
        "ENST00000539815.5:c.647T="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000439155.1:p.Val216="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS362067"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 632,
          "referenceAllele": "T",
          "start": 631
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023657",
      "geneNCBI_id": 10020,
      "geneSymbol": "GNE",
      "hgvs": [
        "ENST00000543356.6:c.632T="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000437765.2:p.Val211="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS363956"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825667602",
      "coordinates": [
        {
          "allele": "T",
          "end": 852,
          "referenceAllele": "T",
          "start": 851
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023657",
      "geneNCBI_id": 10020,
      "geneSymbol": "GNE",
      "hgvs": [
        "NM_001128227.2:c.740T="
      ],
      "proteinEffect": {
        "hgvs": "NP_001121699.1:p.Val247="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS011763"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826157520",
      "coordinates": [
        {
          "allele": "T",
          "end": 868,
          "referenceAllele": "T",
          "start": 867
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023657",
      "geneNCBI_id": 10020,
      "geneSymbol": "GNE",
      "hgvs": [
        "NM_001190383.1:c.647T="
      ],
      "proteinEffect": {
        "hgvs": "NP_001177312.1:p.Val216="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS016168"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 631,
          "endIntronDirection": "-",
          "endIntronOffset": 2821,
          "referenceAllele": "T",
          "start": 631,
          "startIntronDirection": "-",
          "startIntronOffset": 2822
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023657",
      "geneNCBI_id": 10020,
      "geneSymbol": "GNE",
      "hgvs": [
        "NM_001190384.1:c.440-2822T="
      ],
      "proteinEffect": {
        "hgvs": "NP_001177313.1:n.440-2822T="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS016169"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 646,
          "referenceAllele": "T",
          "start": 645
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023657",
      "geneNCBI_id": 10020,
      "geneSymbol": "GNE",
      "hgvs": [
        "NM_001190388.1:c.632T="
      ],
      "proteinEffect": {
        "hgvs": "NP_001177317.1:p.Val211="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS016170"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829588232",
      "coordinates": [
        {
          "allele": "T",
          "end": 868,
          "referenceAllele": "T",
          "start": 867
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023657",
      "geneNCBI_id": 10020,
      "geneSymbol": "GNE",
      "hgvs": [
        "NM_005476.5:c.647T="
      ],
      "proteinEffect": {
        "hgvs": "NP_005467.1:p.Val216="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS030569"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 821,
          "endIntronDirection": "-",
          "endIntronOffset": 2821,
          "referenceAllele": "T",
          "start": 821,
          "startIntronDirection": "-",
          "startIntronOffset": 2822
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023657",
      "geneNCBI_id": 10020,
      "geneSymbol": "GNE",
      "hgvs": [
        "XM_005251334.3:c.710-2822T="
      ],
      "proteinEffect": {
        "hgvs": "XP_005251391.1:n.710-2822T="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS059507"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826157520",
      "coordinates": [
        {
          "allele": "T",
          "end": 817,
          "referenceAllele": "T",
          "start": 816
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023657",
      "geneNCBI_id": 10020,
      "geneSymbol": "GNE",
      "hgvs": [
        "NM_001190383.2:c.647T="
      ],
      "proteinEffect": {
        "hgvs": "NP_001177312.1:p.Val216="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS511761"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 580,
          "endIntronDirection": "-",
          "endIntronOffset": 2821,
          "referenceAllele": "T",
          "start": 580,
          "startIntronDirection": "-",
          "startIntronOffset": 2822
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023657",
      "geneNCBI_id": 10020,
      "geneSymbol": "GNE",
      "hgvs": [
        "NM_001190384.2:c.440-2822T="
      ],
      "proteinEffect": {
        "hgvs": "NP_001177313.1:n.440-2822T="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS511762"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829588232",
      "coordinates": [
        {
          "allele": "T",
          "end": 817,
          "referenceAllele": "T",
          "start": 816
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023657",
      "geneNCBI_id": 10020,
      "geneSymbol": "GNE",
      "hgvs": [
        "NM_005476.6:c.647T="
      ],
      "proteinEffect": {
        "hgvs": "NP_005467.1:p.Val216="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS525317"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 821,
          "endIntronDirection": "-",
          "endIntronOffset": 2821,
          "referenceAllele": "T",
          "start": 821,
          "startIntronDirection": "-",
          "startIntronOffset": 2822
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023657",
      "geneNCBI_id": 10020,
      "geneSymbol": "GNE",
      "hgvs": [
        "XM_005251334.4:c.710-2822T="
      ],
      "proteinEffect": {
        "hgvs": "XP_005251391.1:n.710-2822T="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS533584"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 713,
          "referenceAllele": "T",
          "start": 712
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023657",
      "geneNCBI_id": 10020,
      "geneSymbol": "GNE",
      "hgvs": [
        "XM_017014167.1:c.647T="
      ],
      "proteinEffect": {
        "hgvs": "XP_016869656.1:p.Val216="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS567199"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 814,
          "endIntronDirection": "-",
          "endIntronOffset": 2821,
          "referenceAllele": "T",
          "start": 814,
          "startIntronDirection": "-",
          "startIntronOffset": 2822
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023657",
      "geneNCBI_id": 10020,
      "geneSymbol": "GNE",
      "hgvs": [
        "XM_017014168.1:c.617-2822T="
      ],
      "proteinEffect": {
        "hgvs": "XP_016869657.1:n.617-2822T="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS567200"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825667602",
      "coordinates": [
        {
          "allele": "T",
          "end": 774,
          "referenceAllele": "T",
          "start": 773
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023657",
      "geneNCBI_id": 10020,
      "geneSymbol": "GNE",
      "hgvs": [
        "NM_001128227.3:c.740T="
      ],
      "proteinEffect": {
        "hgvs": "NP_001121699.1:p.Val247="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS676980",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Plus Clinical",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000396594.8:c.740T="
          },
          "RefSeq": {
            "hgvs": "NM_001128227.3:c.740T="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000379839.3:p.Val247="
          },
          "RefSeq": {
            "hgvs": "NP_001121699.1:p.Val247="
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826157520",
      "coordinates": [
        {
          "allele": "T",
          "end": 817,
          "referenceAllele": "T",
          "start": 816
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023657",
      "geneNCBI_id": 10020,
      "geneSymbol": "GNE",
      "hgvs": [
        "NM_001190383.3:c.647T="
      ],
      "proteinEffect": {
        "hgvs": "NP_001177312.1:p.Val216="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS679106"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 580,
          "endIntronDirection": "-",
          "endIntronOffset": 2821,
          "referenceAllele": "T",
          "start": 580,
          "startIntronDirection": "-",
          "startIntronOffset": 2822
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023657",
      "geneNCBI_id": 10020,
      "geneSymbol": "GNE",
      "hgvs": [
        "NM_001190384.3:c.440-2822T="
      ],
      "proteinEffect": {
        "hgvs": "NP_001177313.1:n.440-2822T="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS679107"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826158489",
      "coordinates": [
        {
          "allele": "T",
          "end": 568,
          "referenceAllele": "T",
          "start": 567
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023657",
      "geneNCBI_id": 10020,
      "geneSymbol": "GNE",
      "hgvs": [
        "NM_001190388.2:c.470T="
      ],
      "proteinEffect": {
        "hgvs": "NP_001177317.2:p.Val157="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS679108"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 786,
          "endIntronDirection": "-",
          "endIntronOffset": 2821,
          "referenceAllele": "T",
          "start": 786,
          "startIntronDirection": "-",
          "startIntronOffset": 2822
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023657",
      "geneNCBI_id": 10020,
      "geneSymbol": "GNE",
      "hgvs": [
        "NM_001374797.1:c.617-2822T="
      ],
      "proteinEffect": {
        "hgvs": "NP_001361726.1:n.617-2822T="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS693367"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828551177",
      "coordinates": [
        {
          "allele": "T",
          "end": 611,
          "referenceAllele": "T",
          "start": 610
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023657",
      "geneNCBI_id": 10020,
      "geneSymbol": "GNE",
      "hgvs": [
        "NM_001374798.1:c.470T="
      ],
      "proteinEffect": {
        "hgvs": "NP_001361727.1:p.Val157="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS693368"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829588232",
      "coordinates": [
        {
          "allele": "T",
          "end": 817,
          "referenceAllele": "T",
          "start": 816
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023657",
      "geneNCBI_id": 10020,
      "geneSymbol": "GNE",
      "hgvs": [
        "NM_005476.7:c.647T="
      ],
      "proteinEffect": {
        "hgvs": "NP_005467.1:p.Val216="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS696430",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000642385.2:c.647T="
          },
          "RefSeq": {
            "hgvs": "NM_005476.7:c.647T="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000494141.2:p.Val216="
          },
          "RefSeq": {
            "hgvs": "NP_005467.1:p.Val216="
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}