{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA391833871",
  "communityStandardTitle": [
    "NM_001400225.1(MGA):c.5650+1G>T"
  ],
  "externalRecords": {
    "COSMIC": [
      {
        "@id": "http://cancer.sanger.ac.uk/cosmic/mutation/overview?id=416941",
        "active": true,
        "id": "COSM416941"
      }
    ],
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=4512598[alleleid]",
        "alleleId": 4512598,
        "preferredName": "NM_001400225.1(MGA):c.5650+1G>T"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/4402287",
        "RCV": [
          "RCV006085602"
        ],
        "variationId": 4402287
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr15:g.42041126G>T?assembly=hg19",
        "id": "chr15:g.42041126G>T"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr15:g.41748928G>T?assembly=hg38",
        "id": "chr15:g.41748928G>T"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "15",
      "coordinates": [
        {
          "allele": "T",
          "end": 41748928,
          "referenceAllele": "G",
          "start": 41748927
        }
      ],
      "hgvs": [
        "NC_000015.10:g.41748928G>T",
        "CM000677.2:g.41748928G>T"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000063"
    },
    {
      "chromosome": "15",
      "coordinates": [
        {
          "allele": "T",
          "end": 42041126,
          "referenceAllele": "G",
          "start": 42041125
        }
      ],
      "hgvs": [
        "NC_000015.9:g.42041126G>T",
        "CM000677.1:g.42041126G>T"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000039"
    },
    {
      "chromosome": "15",
      "coordinates": [
        {
          "allele": "T",
          "end": 39828418,
          "referenceAllele": "G",
          "start": 39828417
        }
      ],
      "hgvs": [
        "NC_000015.8:g.39828418G>T"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000015"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 5838,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 5838,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014010",
      "geneNCBI_id": 23269,
      "geneSymbol": "MGA",
      "hgvs": [
        "ENST00000703841.1:c.5650+1G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000515495.1:n.5650+1G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS911965",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000703841.1:c.5650+1G>T"
          },
          "RefSeq": {
            "hgvs": "NM_001400225.1:c.5650+1G>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000515495.1:n.5650+1G>T"
          },
          "RefSeq": {
            "hgvs": "NP_001387154.1:n.5650+1G>T"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1656,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 1656,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014010",
      "geneNCBI_id": 23269,
      "geneSymbol": "MGA",
      "hgvs": [
        "ENST00000703843.1:c.1656+1G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000515497.1:n.1656+1G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS911967"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 5691,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 5691,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014010",
      "geneNCBI_id": 23269,
      "geneSymbol": "MGA",
      "hgvs": [
        "ENST00000219905.13:c.5503+1G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000219905.7:n.5503+1G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS823560"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 4792,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 4792,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014010",
      "geneNCBI_id": 23269,
      "geneSymbol": "MGA",
      "hgvs": [
        "ENST00000545763.6:c.*1311+1G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000442467.2:n.*1311+1G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS825947"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 5072,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 5072,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014010",
      "geneNCBI_id": 23269,
      "geneSymbol": "MGA",
      "hgvs": [
        "ENST00000566586.6:c.4876+1G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000456141.1:n.4876+1G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS826123"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 5815,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 5815,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014010",
      "geneNCBI_id": 23269,
      "geneSymbol": "MGA",
      "hgvs": [
        "ENST00000570161.6:c.5650+1G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000457035.2:n.5650+1G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS826156"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 5684,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 5684,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014010",
      "geneNCBI_id": 23269,
      "geneSymbol": "MGA",
      "hgvs": [
        "ENST00000219905.11:c.5503+1G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000219905.7:n.5503+1G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS248213"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 5057,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 5057,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014010",
      "geneNCBI_id": 23269,
      "geneSymbol": "MGA",
      "hgvs": [
        "ENST00000545763.5:c.4876+1G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000442467.1:n.4876+1G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS365272"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1445,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 1445,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014010",
      "geneNCBI_id": 23269,
      "geneSymbol": "MGA",
      "hgvs": [
        "ENST00000564190.1:c.1445+1G>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS377929"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 197,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 197,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014010",
      "geneNCBI_id": 23269,
      "geneSymbol": "MGA",
      "hgvs": [
        "ENST00000566288.1:n.197+1G>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS379332"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 4943,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 4943,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014010",
      "geneNCBI_id": 23269,
      "geneSymbol": "MGA",
      "hgvs": [
        "ENST00000566586.5:c.4876+1G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000456141.1:n.4876+1G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS379541"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 5503,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 5503,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014010",
      "geneNCBI_id": 23269,
      "geneSymbol": "MGA",
      "hgvs": [
        "ENST00000570161.5:c.5503+1G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000457035.1:n.5503+1G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS381946"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 5057,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 5057,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014010",
      "geneNCBI_id": 23269,
      "geneSymbol": "MGA",
      "hgvs": [
        "NM_001080541.2:c.4876+1G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001074010.2:n.4876+1G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS010287"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 5684,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 5684,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014010",
      "geneNCBI_id": 23269,
      "geneSymbol": "MGA",
      "hgvs": [
        "NM_001164273.1:c.5503+1G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001157745.1:n.5503+1G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS014485"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 5827,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 5827,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014010",
      "geneNCBI_id": 23269,
      "geneSymbol": "MGA",
      "hgvs": [
        "XM_005254243.1:c.5650+1G>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005254300.1:n.5650+1G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS060564"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 5759,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 5759,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014010",
      "geneNCBI_id": 23269,
      "geneSymbol": "MGA",
      "hgvs": [
        "XM_005254244.2:c.5650+1G>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005254301.1:n.5650+1G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS060565"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 5736,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 5736,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014010",
      "geneNCBI_id": 23269,
      "geneSymbol": "MGA",
      "hgvs": [
        "XM_005254245.3:c.5650+1G>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005254302.1:n.5650+1G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS060566"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 5782,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 5782,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014010",
      "geneNCBI_id": 23269,
      "geneSymbol": "MGA",
      "hgvs": [
        "XM_005254246.1:c.5650+1G>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005254303.1:n.5650+1G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS060567"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 5776,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 5776,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014010",
      "geneNCBI_id": 23269,
      "geneSymbol": "MGA",
      "hgvs": [
        "XM_005254247.1:c.5650+1G>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005254304.1:n.5650+1G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS060568"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 5827,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 5827,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014010",
      "geneNCBI_id": 23269,
      "geneSymbol": "MGA",
      "hgvs": [
        "XM_005254248.1:c.5650+1G>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005254305.1:n.5650+1G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS060569"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 5680,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 5680,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014010",
      "geneNCBI_id": 23269,
      "geneSymbol": "MGA",
      "hgvs": [
        "XM_005254249.1:c.5503+1G>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005254306.1:n.5503+1G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS060570"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 5350,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 5350,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014010",
      "geneNCBI_id": 23269,
      "geneSymbol": "MGA",
      "hgvs": [
        "XM_005254252.1:c.5173+1G>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005254309.1:n.5173+1G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS060571"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 5200,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 5200,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014010",
      "geneNCBI_id": 23269,
      "geneSymbol": "MGA",
      "hgvs": [
        "XM_005254253.1:c.5023+1G>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005254310.1:n.5023+1G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS060572"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1275,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 1275,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014010",
      "geneNCBI_id": 23269,
      "geneSymbol": "MGA",
      "hgvs": [
        "XM_005254254.2:c.1186+1G>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005254311.1:n.1186+1G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS060573"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 5737,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 5737,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014010",
      "geneNCBI_id": 23269,
      "geneSymbol": "MGA",
      "hgvs": [
        "XM_006720443.2:c.5650+1G>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_006720506.1:n.5650+1G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS073663"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 4627,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 4627,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014010",
      "geneNCBI_id": 23269,
      "geneSymbol": "MGA",
      "hgvs": [
        "XM_006720444.2:c.4594+1G>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_006720507.1:n.4594+1G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS073664"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 4653,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 4653,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014010",
      "geneNCBI_id": 23269,
      "geneSymbol": "MGA",
      "hgvs": [
        "XM_006720445.2:c.4279+1G>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_006720508.1:n.4279+1G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS073665"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 5497,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 5497,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014010",
      "geneNCBI_id": 23269,
      "geneSymbol": "MGA",
      "hgvs": [
        "XM_011521397.1:c.5320+1G>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011519699.1:n.5320+1G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS088558"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 5497,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 5497,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014010",
      "geneNCBI_id": 23269,
      "geneSymbol": "MGA",
      "hgvs": [
        "XM_011521398.1:c.5320+1G>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011519700.1:n.5320+1G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS088559"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1154,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 1154,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014010",
      "geneNCBI_id": 23269,
      "geneSymbol": "MGA",
      "hgvs": [
        "XM_011521399.1:c.997+1G>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011519701.1:n.997+1G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS088560"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1151,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 1151,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014010",
      "geneNCBI_id": 23269,
      "geneSymbol": "MGA",
      "hgvs": [
        "XM_011521400.1:c.997+1G>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011519702.1:n.997+1G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS088561"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 5827,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 5827,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014010",
      "geneNCBI_id": 23269,
      "geneSymbol": "MGA",
      "hgvs": [
        "XM_005254243.3:c.5650+1G>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005254300.1:n.5650+1G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS534086"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 5775,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 5775,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014010",
      "geneNCBI_id": 23269,
      "geneSymbol": "MGA",
      "hgvs": [
        "XM_005254244.4:c.5650+1G>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005254301.1:n.5650+1G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS534087"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 5988,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 5988,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014010",
      "geneNCBI_id": 23269,
      "geneSymbol": "MGA",
      "hgvs": [
        "XM_005254245.5:c.5650+1G>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005254302.1:n.5650+1G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS534088"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 5782,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 5782,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014010",
      "geneNCBI_id": 23269,
      "geneSymbol": "MGA",
      "hgvs": [
        "XM_005254246.3:c.5650+1G>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005254303.1:n.5650+1G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS534089"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 5776,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 5776,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014010",
      "geneNCBI_id": 23269,
      "geneSymbol": "MGA",
      "hgvs": [
        "XM_005254247.3:c.5650+1G>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005254304.1:n.5650+1G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS534090"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 5827,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 5827,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014010",
      "geneNCBI_id": 23269,
      "geneSymbol": "MGA",
      "hgvs": [
        "XM_005254248.3:c.5650+1G>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005254305.1:n.5650+1G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS534091"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 5680,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 5680,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014010",
      "geneNCBI_id": 23269,
      "geneSymbol": "MGA",
      "hgvs": [
        "XM_005254249.3:c.5503+1G>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005254306.1:n.5503+1G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS534092"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 5350,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 5350,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014010",
      "geneNCBI_id": 23269,
      "geneSymbol": "MGA",
      "hgvs": [
        "XM_005254252.3:c.5173+1G>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005254309.1:n.5173+1G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS534093"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 5200,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 5200,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014010",
      "geneNCBI_id": 23269,
      "geneSymbol": "MGA",
      "hgvs": [
        "XM_005254253.3:c.5023+1G>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005254310.1:n.5023+1G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS534094"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1676,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 1676,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014010",
      "geneNCBI_id": 23269,
      "geneSymbol": "MGA",
      "hgvs": [
        "XM_005254254.4:c.1186+1G>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005254311.1:n.1186+1G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS534095"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 5795,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 5795,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014010",
      "geneNCBI_id": 23269,
      "geneSymbol": "MGA",
      "hgvs": [
        "XM_006720443.4:c.5650+1G>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_006720506.1:n.5650+1G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS540095"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 4660,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 4660,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014010",
      "geneNCBI_id": 23269,
      "geneSymbol": "MGA",
      "hgvs": [
        "XM_006720445.4:c.4279+1G>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_006720508.1:n.4279+1G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS540096"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 5497,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 5497,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014010",
      "geneNCBI_id": 23269,
      "geneSymbol": "MGA",
      "hgvs": [
        "XM_011521397.3:c.5320+1G>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011519699.1:n.5320+1G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS546132"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 5497,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 5497,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014010",
      "geneNCBI_id": 23269,
      "geneSymbol": "MGA",
      "hgvs": [
        "XM_011521398.3:c.5320+1G>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011519700.1:n.5320+1G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS546133"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1173,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 1173,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014010",
      "geneNCBI_id": 23269,
      "geneSymbol": "MGA",
      "hgvs": [
        "XM_011521399.3:c.997+1G>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011519701.1:n.997+1G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS546134"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1084,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 1084,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014010",
      "geneNCBI_id": 23269,
      "geneSymbol": "MGA",
      "hgvs": [
        "XM_011521400.3:c.997+1G>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011519702.1:n.997+1G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS546135"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 4703,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 4703,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014010",
      "geneNCBI_id": 23269,
      "geneSymbol": "MGA",
      "hgvs": [
        "XM_017022028.2:c.4279+1G>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_016877517.1:n.4279+1G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS573083"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 4646,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 4646,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014010",
      "geneNCBI_id": 23269,
      "geneSymbol": "MGA",
      "hgvs": [
        "XM_017022029.2:c.4279+1G>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_016877518.1:n.4279+1G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS573084"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 4611,
          "endIntronDirection": "-",
          "endIntronOffset": 5508,
          "referenceAllele": "G",
          "start": 4611,
          "startIntronDirection": "-",
          "startIntronOffset": 5509
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014010",
      "geneNCBI_id": 23269,
      "geneSymbol": "MGA",
      "hgvs": [
        "XM_017022030.2:c.4435-5509G>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_016877519.1:n.4435-5509G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS573085"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 4222,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 4222,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014010",
      "geneNCBI_id": 23269,
      "geneSymbol": "MGA",
      "hgvs": [
        "XM_017022031.2:c.997+1G>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_016877520.1:n.997+1G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS573086"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1658,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 1658,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014010",
      "geneNCBI_id": 23269,
      "geneSymbol": "MGA",
      "hgvs": [
        "XM_017022032.2:c.997+1G>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_016877521.1:n.997+1G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS573087"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 5069,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 5069,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014010",
      "geneNCBI_id": 23269,
      "geneSymbol": "MGA",
      "hgvs": [
        "XR_001751172.2:n.5069+1G>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS598161"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 5064,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 5064,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014010",
      "geneNCBI_id": 23269,
      "geneSymbol": "MGA",
      "hgvs": [
        "NM_001080541.3:c.4876+1G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001074010.2:n.4876+1G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS711843"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 5691,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 5691,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014010",
      "geneNCBI_id": 23269,
      "geneSymbol": "MGA",
      "hgvs": [
        "NM_001164273.2:c.5503+1G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001157745.1:n.5503+1G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS713069"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 5838,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 5838,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014010",
      "geneNCBI_id": 23269,
      "geneSymbol": "MGA",
      "hgvs": [
        "NM_001400225.1:c.5650+1G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001387154.1:n.5650+1G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS783608",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000703841.1:c.5650+1G>T"
          },
          "RefSeq": {
            "hgvs": "NM_001400225.1:c.5650+1G>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000515495.1:n.5650+1G>T"
          },
          "RefSeq": {
            "hgvs": "NP_001387154.1:n.5650+1G>T"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 4298,
          "endIntronDirection": "-",
          "endIntronOffset": 5508,
          "referenceAllele": "G",
          "start": 4298,
          "startIntronDirection": "-",
          "startIntronOffset": 5509
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014010",
      "geneNCBI_id": 23269,
      "geneSymbol": "MGA",
      "hgvs": [
        "NM_001400242.1:c.4105-5509G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001387171.1:n.4105-5509G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS783611"
    }
  ],
  "type": "nucleotide"
}