{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA2338163796",
  "communityStandardTitle": [
    "NM_001128917.2(TOMM40):c.844-34T="
  ],
  "externalRecords": {
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/741780",
        "rs": 741780
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "19",
      "coordinates": [
        {
          "allele": "T",
          "end": 44901174,
          "referenceAllele": "T",
          "start": 44901173
        }
      ],
      "hgvs": [
        "NC_000019.10:g.44901174T=",
        "CM000681.2:g.44901174T="
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000067"
    },
    {
      "chromosome": "19",
      "coordinates": [
        {
          "allele": "T",
          "end": 45404431,
          "referenceAllele": "T",
          "start": 45404430
        }
      ],
      "hgvs": [
        "NC_000019.9:g.45404431T=",
        "CM000681.1:g.45404431T="
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000043"
    },
    {
      "chromosome": "19",
      "coordinates": [
        {
          "allele": "T",
          "end": 50096271,
          "referenceAllele": "T",
          "start": 50096270
        }
      ],
      "hgvs": [
        "NC_000019.8:g.50096271T="
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000019"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 393,
          "referenceAllele": "T",
          "start": 392
        }
      ],
      "hgvs": [
        "NG_007084.2:g.393T="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS000464"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 14955,
          "referenceAllele": "T",
          "start": 14954
        }
      ],
      "hgvs": [
        "NG_042854.1:g.14955T="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS006045"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1005,
          "endIntronDirection": "-",
          "endIntronOffset": 33,
          "referenceAllele": "T",
          "start": 1005,
          "startIntronDirection": "-",
          "startIntronOffset": 34
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018001",
      "geneNCBI_id": 10452,
      "geneSymbol": "TOMM40",
      "hgvs": [
        "ENST00000426677.7:c.844-34T="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000410339.1:n.844-34T="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS755147",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000426677.7:c.844-34T="
          },
          "RefSeq": {
            "hgvs": "NM_001128917.2:c.844-34T="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000410339.1:n.844-34T="
          },
          "RefSeq": {
            "hgvs": "NP_001122389.1:n.844-34T="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 944,
          "endIntronDirection": "-",
          "endIntronOffset": 33,
          "referenceAllele": "T",
          "start": 944,
          "startIntronDirection": "-",
          "startIntronOffset": 34
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018001",
      "geneNCBI_id": 10452,
      "geneSymbol": "TOMM40",
      "hgvs": [
        "ENST00000252487.9:c.844-34T="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000252487.4:n.844-34T="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS249823"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 947,
          "endIntronDirection": "-",
          "endIntronOffset": 33,
          "referenceAllele": "T",
          "start": 947,
          "startIntronDirection": "-",
          "startIntronOffset": 34
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018001",
      "geneNCBI_id": 10452,
      "geneSymbol": "TOMM40",
      "hgvs": [
        "ENST00000405636.6:c.844-34T="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000385184.2:n.844-34T="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS280404"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1023,
          "endIntronDirection": "-",
          "endIntronOffset": 33,
          "referenceAllele": "T",
          "start": 1023,
          "startIntronDirection": "-",
          "startIntronOffset": 34
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018001",
      "geneNCBI_id": 10452,
      "geneSymbol": "TOMM40",
      "hgvs": [
        "ENST00000426677.6:c.844-34T="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000410339.1:n.844-34T="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS289338"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 359,
          "endIntronDirection": "-",
          "endIntronOffset": 33,
          "referenceAllele": "T",
          "start": 359,
          "startIntronDirection": "-",
          "startIntronOffset": 34
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018001",
      "geneNCBI_id": 10452,
      "geneSymbol": "TOMM40",
      "hgvs": [
        "ENST00000592041.1:c.360-34T="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS393287"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 936,
          "endIntronDirection": "-",
          "endIntronOffset": 33,
          "referenceAllele": "T",
          "start": 936,
          "startIntronDirection": "-",
          "startIntronOffset": 34
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018001",
      "geneNCBI_id": 10452,
      "geneSymbol": "TOMM40",
      "hgvs": [
        "ENST00000592434.5:c.844-34T="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000466084.1:n.844-34T="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS393561"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 947,
          "endIntronDirection": "-",
          "endIntronOffset": 33,
          "referenceAllele": "T",
          "start": 947,
          "startIntronDirection": "-",
          "startIntronOffset": 34
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018001",
      "geneNCBI_id": 10452,
      "geneSymbol": "TOMM40",
      "hgvs": [
        "NM_001128916.1:c.844-34T="
      ],
      "proteinEffect": {
        "hgvs": "NP_001122388.1:n.844-34T="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS011839"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1039,
          "endIntronDirection": "-",
          "endIntronOffset": 33,
          "referenceAllele": "T",
          "start": 1039,
          "startIntronDirection": "-",
          "startIntronOffset": 34
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018001",
      "geneNCBI_id": 10452,
      "geneSymbol": "TOMM40",
      "hgvs": [
        "NM_001128917.1:c.844-34T="
      ],
      "proteinEffect": {
        "hgvs": "NP_001122389.1:n.844-34T="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS011840"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 944,
          "endIntronDirection": "-",
          "endIntronOffset": 33,
          "referenceAllele": "T",
          "start": 944,
          "startIntronDirection": "-",
          "startIntronOffset": 34
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018001",
      "geneNCBI_id": 10452,
      "geneSymbol": "TOMM40",
      "hgvs": [
        "NM_006114.2:c.844-34T="
      ],
      "proteinEffect": {
        "hgvs": "NP_006105.1:n.844-34T="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS031151"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 941,
          "endIntronDirection": "-",
          "endIntronOffset": 33,
          "referenceAllele": "T",
          "start": 941,
          "startIntronDirection": "-",
          "startIntronOffset": 34
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018001",
      "geneNCBI_id": 10452,
      "geneSymbol": "TOMM40",
      "hgvs": [
        "XM_005258411.2:c.844-34T="
      ],
      "proteinEffect": {
        "hgvs": "XP_005258468.1:n.844-34T="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS062061"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 941,
          "endIntronDirection": "-",
          "endIntronOffset": 33,
          "referenceAllele": "T",
          "start": 941,
          "startIntronDirection": "-",
          "startIntronOffset": 34
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018001",
      "geneNCBI_id": 10452,
      "geneSymbol": "TOMM40",
      "hgvs": [
        "XM_005258411.4:c.844-34T="
      ],
      "proteinEffect": {
        "hgvs": "XP_005258468.1:n.844-34T="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS534831"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1005,
          "endIntronDirection": "-",
          "endIntronOffset": 33,
          "referenceAllele": "T",
          "start": 1005,
          "startIntronDirection": "-",
          "startIntronOffset": 34
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018001",
      "geneNCBI_id": 10452,
      "geneSymbol": "TOMM40",
      "hgvs": [
        "NM_001128917.2:c.844-34T="
      ],
      "proteinEffect": {
        "hgvs": "NP_001122389.1:n.844-34T="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS663570",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000426677.7:c.844-34T="
          },
          "RefSeq": {
            "hgvs": "NM_001128917.2:c.844-34T="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000410339.1:n.844-34T="
          },
          "RefSeq": {
            "hgvs": "NP_001122389.1:n.844-34T="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 910,
          "endIntronDirection": "-",
          "endIntronOffset": 33,
          "referenceAllele": "T",
          "start": 910,
          "startIntronDirection": "-",
          "startIntronOffset": 34
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018001",
      "geneNCBI_id": 10452,
      "geneSymbol": "TOMM40",
      "hgvs": [
        "NM_006114.3:c.844-34T="
      ],
      "proteinEffect": {
        "hgvs": "NP_006105.1:n.844-34T="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS696615"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 913,
          "endIntronDirection": "-",
          "endIntronOffset": 33,
          "referenceAllele": "T",
          "start": 913,
          "startIntronDirection": "-",
          "startIntronOffset": 34
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018001",
      "geneNCBI_id": 10452,
      "geneSymbol": "TOMM40",
      "hgvs": [
        "NM_001128916.2:c.844-34T="
      ],
      "proteinEffect": {
        "hgvs": "NP_001122388.1:n.844-34T="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS712268"
    }
  ],
  "type": "nucleotide"
}