{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA2970245108",
  "communityStandardTitle": [
    "NM_005476.7(GNE):c.1634-56T>A"
  ],
  "genomicAlleles": [
    {
      "chromosome": "9",
      "coordinates": [
        {
          "allele": "T",
          "end": 36220076,
          "referenceAllele": "A",
          "start": 36220075
        }
      ],
      "hgvs": [
        "NC_000009.12:g.36220076A>T",
        "CM000671.2:g.36220076A>T"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000057"
    },
    {
      "chromosome": "9",
      "coordinates": [
        {
          "allele": "T",
          "end": 36220073,
          "referenceAllele": "A",
          "start": 36220072
        }
      ],
      "hgvs": [
        "NC_000009.11:g.36220073A>T",
        "CM000671.1:g.36220073A>T"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000033"
    },
    {
      "chromosome": "9",
      "coordinates": [
        {
          "allele": "T",
          "end": 36210073,
          "referenceAllele": "A",
          "start": 36210072
        }
      ],
      "hgvs": [
        "NC_000009.10:g.36210073A>T"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000009"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 61969,
          "referenceAllele": "T",
          "start": 61968
        }
      ],
      "hgvs": [
        "NG_008246.1:g.61969T>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS000977"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1760,
          "endIntronDirection": "-",
          "endIntronOffset": 55,
          "referenceAllele": "T",
          "start": 1760,
          "startIntronDirection": "-",
          "startIntronOffset": 56
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023657",
      "geneNCBI_id": 10020,
      "geneSymbol": "GNE",
      "hgvs": [
        "ENST00000396594.8:c.1727-56T>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000379839.3:n.1727-56T>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS753539",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Plus Clinical",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000396594.8:c.1727-56T>A"
          },
          "RefSeq": {
            "hgvs": "NM_001128227.3:c.1727-56T>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000379839.3:n.1727-56T>A"
          },
          "RefSeq": {
            "hgvs": "NP_001121699.1:n.1727-56T>A"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1618,
          "endIntronDirection": "-",
          "endIntronOffset": 55,
          "referenceAllele": "T",
          "start": 1618,
          "startIntronDirection": "-",
          "startIntronOffset": 56
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023657",
      "geneNCBI_id": 10020,
      "geneSymbol": "GNE",
      "hgvs": [
        "ENST00000543356.7:c.1457-56T>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000437765.3:n.1457-56T>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS759730"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1803,
          "endIntronDirection": "-",
          "endIntronOffset": 55,
          "referenceAllele": "T",
          "start": 1803,
          "startIntronDirection": "-",
          "startIntronOffset": 56
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023657",
      "geneNCBI_id": 10020,
      "geneSymbol": "GNE",
      "hgvs": [
        "ENST00000642385.2:c.1634-56T>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000494141.2:n.1634-56T>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS766712",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000642385.2:c.1634-56T>A"
          },
          "RefSeq": {
            "hgvs": "NM_005476.7:c.1634-56T>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000494141.2:n.1634-56T>A"
          },
          "RefSeq": {
            "hgvs": "NP_005467.1:n.1634-56T>A"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1854,
          "endIntronDirection": "-",
          "endIntronOffset": 55,
          "referenceAllele": "T",
          "start": 1854,
          "startIntronDirection": "-",
          "startIntronOffset": 56
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023657",
      "geneNCBI_id": 10020,
      "geneSymbol": "GNE",
      "hgvs": [
        "ENST00000377902.5:c.1634-56T>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000367134.4:n.1634-56T>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS271797"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1838,
          "endIntronDirection": "-",
          "endIntronOffset": 55,
          "referenceAllele": "T",
          "start": 1838,
          "startIntronDirection": "-",
          "startIntronOffset": 56
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023657",
      "geneNCBI_id": 10020,
      "geneSymbol": "GNE",
      "hgvs": [
        "ENST00000396594.7:c.1727-56T>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000379839.3:n.1727-56T>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS277344"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1462,
          "endIntronDirection": "-",
          "endIntronOffset": 55,
          "referenceAllele": "T",
          "start": 1462,
          "startIntronDirection": "-",
          "startIntronOffset": 56
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023657",
      "geneNCBI_id": 10020,
      "geneSymbol": "GNE",
      "hgvs": [
        "ENST00000447283.6:c.1412-56T>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000414760.2:n.1412-56T>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS299151"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 611,
          "endIntronDirection": "+",
          "endIntronOffset": 15897,
          "referenceAllele": "A",
          "start": 611,
          "startIntronDirection": "+",
          "startIntronOffset": 15896
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002090",
      "geneNCBI_id": 1211,
      "geneSymbol": "CLTA",
      "hgvs": [
        "ENST00000464497.5:c.485+15897A>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000419158.1:n.485+15897A>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS308313"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1441,
          "endIntronDirection": "-",
          "endIntronOffset": 55,
          "referenceAllele": "T",
          "start": 1441,
          "startIntronDirection": "-",
          "startIntronOffset": 56
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023657",
      "geneNCBI_id": 10020,
      "geneSymbol": "GNE",
      "hgvs": [
        "ENST00000539208.5:c.1304-56T>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000445117.1:n.1304-56T>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS361731"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1674,
          "endIntronDirection": "-",
          "endIntronOffset": 55,
          "referenceAllele": "T",
          "start": 1674,
          "startIntronDirection": "-",
          "startIntronOffset": 56
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023657",
      "geneNCBI_id": 10020,
      "geneSymbol": "GNE",
      "hgvs": [
        "ENST00000539815.5:c.1634-56T>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000439155.1:n.1634-56T>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS362067"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1618,
          "endIntronDirection": "-",
          "endIntronOffset": 55,
          "referenceAllele": "T",
          "start": 1618,
          "startIntronDirection": "-",
          "startIntronOffset": 56
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023657",
      "geneNCBI_id": 10020,
      "geneSymbol": "GNE",
      "hgvs": [
        "ENST00000543356.6:c.1619-56T>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000437765.2:n.1619-56T>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS363956"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1838,
          "endIntronDirection": "-",
          "endIntronOffset": 55,
          "referenceAllele": "T",
          "start": 1838,
          "startIntronDirection": "-",
          "startIntronOffset": 56
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023657",
      "geneNCBI_id": 10020,
      "geneSymbol": "GNE",
      "hgvs": [
        "NM_001128227.2:c.1727-56T>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001121699.1:n.1727-56T>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS011763"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1632,
          "endIntronDirection": "-",
          "endIntronOffset": 55,
          "referenceAllele": "T",
          "start": 1632,
          "startIntronDirection": "-",
          "startIntronOffset": 56
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023657",
      "geneNCBI_id": 10020,
      "geneSymbol": "GNE",
      "hgvs": [
        "NM_001190383.1:c.1412-56T>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001177312.1:n.1412-56T>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS016168"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1495,
          "endIntronDirection": "-",
          "endIntronOffset": 55,
          "referenceAllele": "T",
          "start": 1495,
          "startIntronDirection": "-",
          "startIntronOffset": 56
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023657",
      "geneNCBI_id": 10020,
      "geneSymbol": "GNE",
      "hgvs": [
        "NM_001190384.1:c.1304-56T>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001177313.1:n.1304-56T>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS016169"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1632,
          "endIntronDirection": "-",
          "endIntronOffset": 55,
          "referenceAllele": "T",
          "start": 1632,
          "startIntronDirection": "-",
          "startIntronOffset": 56
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023657",
      "geneNCBI_id": 10020,
      "geneSymbol": "GNE",
      "hgvs": [
        "NM_001190388.1:c.1619-56T>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001177317.1:n.1619-56T>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS016170"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1854,
          "endIntronDirection": "-",
          "endIntronOffset": 55,
          "referenceAllele": "T",
          "start": 1854,
          "startIntronDirection": "-",
          "startIntronOffset": 56
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023657",
      "geneNCBI_id": 10020,
      "geneSymbol": "GNE",
      "hgvs": [
        "NM_005476.5:c.1634-56T>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_005467.1:n.1634-56T>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS030569"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1685,
          "endIntronDirection": "-",
          "endIntronOffset": 55,
          "referenceAllele": "T",
          "start": 1685,
          "startIntronDirection": "-",
          "startIntronOffset": 56
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023657",
      "geneNCBI_id": 10020,
      "geneSymbol": "GNE",
      "hgvs": [
        "XM_005251334.3:c.1574-56T>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_005251391.1:n.1574-56T>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS059507"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1581,
          "endIntronDirection": "-",
          "endIntronOffset": 55,
          "referenceAllele": "T",
          "start": 1581,
          "startIntronDirection": "-",
          "startIntronOffset": 56
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023657",
      "geneNCBI_id": 10020,
      "geneSymbol": "GNE",
      "hgvs": [
        "NM_001190383.2:c.1412-56T>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001177312.1:n.1412-56T>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS511761"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1444,
          "endIntronDirection": "-",
          "endIntronOffset": 55,
          "referenceAllele": "T",
          "start": 1444,
          "startIntronDirection": "-",
          "startIntronOffset": 56
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023657",
      "geneNCBI_id": 10020,
      "geneSymbol": "GNE",
      "hgvs": [
        "NM_001190384.2:c.1304-56T>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001177313.1:n.1304-56T>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS511762"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1803,
          "endIntronDirection": "-",
          "endIntronOffset": 55,
          "referenceAllele": "T",
          "start": 1803,
          "startIntronDirection": "-",
          "startIntronOffset": 56
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023657",
      "geneNCBI_id": 10020,
      "geneSymbol": "GNE",
      "hgvs": [
        "NM_005476.6:c.1634-56T>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_005467.1:n.1634-56T>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS525317"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1685,
          "endIntronDirection": "-",
          "endIntronOffset": 55,
          "referenceAllele": "T",
          "start": 1685,
          "startIntronDirection": "-",
          "startIntronOffset": 56
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023657",
      "geneNCBI_id": 10020,
      "geneSymbol": "GNE",
      "hgvs": [
        "XM_005251334.4:c.1574-56T>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_005251391.1:n.1574-56T>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS533584"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1699,
          "endIntronDirection": "-",
          "endIntronOffset": 55,
          "referenceAllele": "T",
          "start": 1699,
          "startIntronDirection": "-",
          "startIntronOffset": 56
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023657",
      "geneNCBI_id": 10020,
      "geneSymbol": "GNE",
      "hgvs": [
        "XM_017014167.1:c.1634-56T>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_016869656.1:n.1634-56T>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS567199"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1678,
          "endIntronDirection": "-",
          "endIntronOffset": 55,
          "referenceAllele": "T",
          "start": 1678,
          "startIntronDirection": "-",
          "startIntronOffset": 56
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023657",
      "geneNCBI_id": 10020,
      "geneSymbol": "GNE",
      "hgvs": [
        "XM_017014168.1:c.1481-56T>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_016869657.1:n.1481-56T>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS567200"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1760,
          "endIntronDirection": "-",
          "endIntronOffset": 55,
          "referenceAllele": "T",
          "start": 1760,
          "startIntronDirection": "-",
          "startIntronOffset": 56
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023657",
      "geneNCBI_id": 10020,
      "geneSymbol": "GNE",
      "hgvs": [
        "NM_001128227.3:c.1727-56T>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001121699.1:n.1727-56T>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS676980",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Plus Clinical",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000396594.8:c.1727-56T>A"
          },
          "RefSeq": {
            "hgvs": "NM_001128227.3:c.1727-56T>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000379839.3:n.1727-56T>A"
          },
          "RefSeq": {
            "hgvs": "NP_001121699.1:n.1727-56T>A"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1581,
          "endIntronDirection": "-",
          "endIntronOffset": 55,
          "referenceAllele": "T",
          "start": 1581,
          "startIntronDirection": "-",
          "startIntronOffset": 56
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023657",
      "geneNCBI_id": 10020,
      "geneSymbol": "GNE",
      "hgvs": [
        "NM_001190383.3:c.1412-56T>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001177312.1:n.1412-56T>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS679106"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1444,
          "endIntronDirection": "-",
          "endIntronOffset": 55,
          "referenceAllele": "T",
          "start": 1444,
          "startIntronDirection": "-",
          "startIntronOffset": 56
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023657",
      "geneNCBI_id": 10020,
      "geneSymbol": "GNE",
      "hgvs": [
        "NM_001190384.3:c.1304-56T>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001177313.1:n.1304-56T>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS679107"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1554,
          "endIntronDirection": "-",
          "endIntronOffset": 55,
          "referenceAllele": "T",
          "start": 1554,
          "startIntronDirection": "-",
          "startIntronOffset": 56
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023657",
      "geneNCBI_id": 10020,
      "geneSymbol": "GNE",
      "hgvs": [
        "NM_001190388.2:c.1457-56T>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001177317.2:n.1457-56T>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS679108"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1650,
          "endIntronDirection": "-",
          "endIntronOffset": 55,
          "referenceAllele": "T",
          "start": 1650,
          "startIntronDirection": "-",
          "startIntronOffset": 56
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023657",
      "geneNCBI_id": 10020,
      "geneSymbol": "GNE",
      "hgvs": [
        "NM_001374797.1:c.1481-56T>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001361726.1:n.1481-56T>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS693367"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1597,
          "endIntronDirection": "-",
          "endIntronOffset": 55,
          "referenceAllele": "T",
          "start": 1597,
          "startIntronDirection": "-",
          "startIntronOffset": 56
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023657",
      "geneNCBI_id": 10020,
      "geneSymbol": "GNE",
      "hgvs": [
        "NM_001374798.1:c.1457-56T>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001361727.1:n.1457-56T>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS693368"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1803,
          "endIntronDirection": "-",
          "endIntronOffset": 55,
          "referenceAllele": "T",
          "start": 1803,
          "startIntronDirection": "-",
          "startIntronOffset": 56
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023657",
      "geneNCBI_id": 10020,
      "geneSymbol": "GNE",
      "hgvs": [
        "NM_005476.7:c.1634-56T>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_005467.1:n.1634-56T>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS696430",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000642385.2:c.1634-56T>A"
          },
          "RefSeq": {
            "hgvs": "NM_005476.7:c.1634-56T>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000494141.2:n.1634-56T>A"
          },
          "RefSeq": {
            "hgvs": "NP_005467.1:n.1634-56T>A"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}