{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA1846324214",
  "communityStandardTitle": [
    "NM_005476.7(GNE):c.1993G= (p.Val665=)"
  ],
  "externalRecords": {
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/387906348",
        "rs": 387906348
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "9",
      "coordinates": [
        {
          "allele": "C",
          "end": 36217541,
          "referenceAllele": "C",
          "start": 36217540
        }
      ],
      "hgvs": [
        "NC_000009.12:g.36217541C=",
        "CM000671.2:g.36217541C="
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000057"
    },
    {
      "chromosome": "9",
      "coordinates": [
        {
          "allele": "C",
          "end": 36217538,
          "referenceAllele": "C",
          "start": 36217537
        }
      ],
      "hgvs": [
        "NC_000009.11:g.36217538C=",
        "CM000671.1:g.36217538C="
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000033"
    },
    {
      "chromosome": "9",
      "coordinates": [
        {
          "allele": "C",
          "end": 36207538,
          "referenceAllele": "C",
          "start": 36207537
        }
      ],
      "hgvs": [
        "NC_000009.10:g.36207538C="
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000009"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 64504,
          "referenceAllele": "G",
          "start": 64503
        }
      ],
      "hgvs": [
        "NG_008246.1:g.64504G="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS000977"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2120,
          "referenceAllele": "G",
          "start": 2119
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023657",
      "geneNCBI_id": 10020,
      "geneSymbol": "GNE",
      "hgvs": [
        "ENST00000396594.8:c.2086G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000379839.3:p.Val696="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS753539",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Plus Clinical",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000396594.8:c.2086G="
          },
          "RefSeq": {
            "hgvs": "NM_001128227.3:c.2086G="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000379839.3:p.Val696="
          },
          "RefSeq": {
            "hgvs": "NP_001121699.1:p.Val696="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1978,
          "referenceAllele": "G",
          "start": 1977
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023657",
      "geneNCBI_id": 10020,
      "geneSymbol": "GNE",
      "hgvs": [
        "ENST00000543356.7:c.1816G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000437765.3:p.Val606="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS759730"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2163,
          "referenceAllele": "G",
          "start": 2162
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023657",
      "geneNCBI_id": 10020,
      "geneSymbol": "GNE",
      "hgvs": [
        "ENST00000642385.2:c.1993G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000494141.2:p.Val665="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS766712",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000642385.2:c.1993G="
          },
          "RefSeq": {
            "hgvs": "NM_005476.7:c.1993G="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000494141.2:p.Val665="
          },
          "RefSeq": {
            "hgvs": "NP_005467.1:p.Val665="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2214,
          "referenceAllele": "G",
          "start": 2213
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023657",
      "geneNCBI_id": 10020,
      "geneSymbol": "GNE",
      "hgvs": [
        "ENST00000377902.5:c.1993G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000367134.4:p.Val665="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS271797"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2198,
          "referenceAllele": "G",
          "start": 2197
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023657",
      "geneNCBI_id": 10020,
      "geneSymbol": "GNE",
      "hgvs": [
        "ENST00000396594.7:c.2086G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000379839.3:p.Val696="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS277344"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1822,
          "referenceAllele": "G",
          "start": 1821
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023657",
      "geneNCBI_id": 10020,
      "geneSymbol": "GNE",
      "hgvs": [
        "ENST00000447283.6:c.1771G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000414760.2:p.Val591="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS299151"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 611,
          "endIntronDirection": "+",
          "endIntronOffset": 13362,
          "referenceAllele": "C",
          "start": 611,
          "startIntronDirection": "+",
          "startIntronOffset": 13361
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002090",
      "geneNCBI_id": 1211,
      "geneSymbol": "CLTA",
      "hgvs": [
        "ENST00000464497.5:c.485+13362C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000419158.1:n.485+13362C="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS308313"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1801,
          "referenceAllele": "G",
          "start": 1800
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023657",
      "geneNCBI_id": 10020,
      "geneSymbol": "GNE",
      "hgvs": [
        "ENST00000539208.5:c.1663G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000445117.1:p.Val555="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS361731"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2034,
          "referenceAllele": "G",
          "start": 2033
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023657",
      "geneNCBI_id": 10020,
      "geneSymbol": "GNE",
      "hgvs": [
        "ENST00000539815.5:c.1993G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000439155.1:p.Val665="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS362067"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1978,
          "referenceAllele": "G",
          "start": 1977
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023657",
      "geneNCBI_id": 10020,
      "geneSymbol": "GNE",
      "hgvs": [
        "ENST00000543356.6:c.1978G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000437765.2:p.Val660="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS363956"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2198,
          "referenceAllele": "G",
          "start": 2197
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023657",
      "geneNCBI_id": 10020,
      "geneSymbol": "GNE",
      "hgvs": [
        "NM_001128227.2:c.2086G="
      ],
      "proteinEffect": {
        "hgvs": "NP_001121699.1:p.Val696="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS011763"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1992,
          "referenceAllele": "G",
          "start": 1991
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023657",
      "geneNCBI_id": 10020,
      "geneSymbol": "GNE",
      "hgvs": [
        "NM_001190383.1:c.1771G="
      ],
      "proteinEffect": {
        "hgvs": "NP_001177312.1:p.Val591="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS016168"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1855,
          "referenceAllele": "G",
          "start": 1854
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023657",
      "geneNCBI_id": 10020,
      "geneSymbol": "GNE",
      "hgvs": [
        "NM_001190384.1:c.1663G="
      ],
      "proteinEffect": {
        "hgvs": "NP_001177313.1:p.Val555="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS016169"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1992,
          "referenceAllele": "G",
          "start": 1991
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023657",
      "geneNCBI_id": 10020,
      "geneSymbol": "GNE",
      "hgvs": [
        "NM_001190388.1:c.1978G="
      ],
      "proteinEffect": {
        "hgvs": "NP_001177317.1:p.Val660="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS016170"
    },
    {
      "@id": "http://reg.genome.network/allele/PA3075714626",
      "coordinates": [
        {
          "allele": "G",
          "end": 2214,
          "referenceAllele": "G",
          "start": 2213
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023657",
      "geneNCBI_id": 10020,
      "geneSymbol": "GNE",
      "hgvs": [
        "NM_005476.5:c.1993G="
      ],
      "proteinEffect": {
        "hgvs": "NP_005467.1:p.Val665="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS030569"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2045,
          "referenceAllele": "G",
          "start": 2044
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023657",
      "geneNCBI_id": 10020,
      "geneSymbol": "GNE",
      "hgvs": [
        "XM_005251334.3:c.1933G="
      ],
      "proteinEffect": {
        "hgvs": "XP_005251391.1:p.Val645="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS059507"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1941,
          "referenceAllele": "G",
          "start": 1940
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023657",
      "geneNCBI_id": 10020,
      "geneSymbol": "GNE",
      "hgvs": [
        "NM_001190383.2:c.1771G="
      ],
      "proteinEffect": {
        "hgvs": "NP_001177312.1:p.Val591="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS511761"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1804,
          "referenceAllele": "G",
          "start": 1803
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023657",
      "geneNCBI_id": 10020,
      "geneSymbol": "GNE",
      "hgvs": [
        "NM_001190384.2:c.1663G="
      ],
      "proteinEffect": {
        "hgvs": "NP_001177313.1:p.Val555="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS511762"
    },
    {
      "@id": "http://reg.genome.network/allele/PA3075714626",
      "coordinates": [
        {
          "allele": "G",
          "end": 2163,
          "referenceAllele": "G",
          "start": 2162
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023657",
      "geneNCBI_id": 10020,
      "geneSymbol": "GNE",
      "hgvs": [
        "NM_005476.6:c.1993G="
      ],
      "proteinEffect": {
        "hgvs": "NP_005467.1:p.Val665="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS525317"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2045,
          "referenceAllele": "G",
          "start": 2044
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023657",
      "geneNCBI_id": 10020,
      "geneSymbol": "GNE",
      "hgvs": [
        "XM_005251334.4:c.1933G="
      ],
      "proteinEffect": {
        "hgvs": "XP_005251391.1:p.Val645="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS533584"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2059,
          "referenceAllele": "G",
          "start": 2058
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023657",
      "geneNCBI_id": 10020,
      "geneSymbol": "GNE",
      "hgvs": [
        "XM_017014167.1:c.1993G="
      ],
      "proteinEffect": {
        "hgvs": "XP_016869656.1:p.Val665="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS567199"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2038,
          "referenceAllele": "G",
          "start": 2037
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023657",
      "geneNCBI_id": 10020,
      "geneSymbol": "GNE",
      "hgvs": [
        "XM_017014168.1:c.1840G="
      ],
      "proteinEffect": {
        "hgvs": "XP_016869657.1:p.Val614="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS567200"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2120,
          "referenceAllele": "G",
          "start": 2119
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023657",
      "geneNCBI_id": 10020,
      "geneSymbol": "GNE",
      "hgvs": [
        "NM_001128227.3:c.2086G="
      ],
      "proteinEffect": {
        "hgvs": "NP_001121699.1:p.Val696="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS676980",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Plus Clinical",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000396594.8:c.2086G="
          },
          "RefSeq": {
            "hgvs": "NM_001128227.3:c.2086G="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000379839.3:p.Val696="
          },
          "RefSeq": {
            "hgvs": "NP_001121699.1:p.Val696="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1941,
          "referenceAllele": "G",
          "start": 1940
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023657",
      "geneNCBI_id": 10020,
      "geneSymbol": "GNE",
      "hgvs": [
        "NM_001190383.3:c.1771G="
      ],
      "proteinEffect": {
        "hgvs": "NP_001177312.1:p.Val591="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS679106"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1804,
          "referenceAllele": "G",
          "start": 1803
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023657",
      "geneNCBI_id": 10020,
      "geneSymbol": "GNE",
      "hgvs": [
        "NM_001190384.3:c.1663G="
      ],
      "proteinEffect": {
        "hgvs": "NP_001177313.1:p.Val555="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS679107"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1914,
          "referenceAllele": "G",
          "start": 1913
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023657",
      "geneNCBI_id": 10020,
      "geneSymbol": "GNE",
      "hgvs": [
        "NM_001190388.2:c.1816G="
      ],
      "proteinEffect": {
        "hgvs": "NP_001177317.2:p.Val606="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS679108"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2010,
          "referenceAllele": "G",
          "start": 2009
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023657",
      "geneNCBI_id": 10020,
      "geneSymbol": "GNE",
      "hgvs": [
        "NM_001374797.1:c.1840G="
      ],
      "proteinEffect": {
        "hgvs": "NP_001361726.1:p.Val614="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS693367"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1957,
          "referenceAllele": "G",
          "start": 1956
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023657",
      "geneNCBI_id": 10020,
      "geneSymbol": "GNE",
      "hgvs": [
        "NM_001374798.1:c.1816G="
      ],
      "proteinEffect": {
        "hgvs": "NP_001361727.1:p.Val606="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS693368"
    },
    {
      "@id": "http://reg.genome.network/allele/PA3075714626",
      "coordinates": [
        {
          "allele": "G",
          "end": 2163,
          "referenceAllele": "G",
          "start": 2162
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023657",
      "geneNCBI_id": 10020,
      "geneSymbol": "GNE",
      "hgvs": [
        "NM_005476.7:c.1993G="
      ],
      "proteinEffect": {
        "hgvs": "NP_005467.1:p.Val665="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS696430",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000642385.2:c.1993G="
          },
          "RefSeq": {
            "hgvs": "NM_005476.7:c.1993G="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000494141.2:p.Val665="
          },
          "RefSeq": {
            "hgvs": "NP_005467.1:p.Val665="
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}