{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA179737476",
  "communityStandardTitle": [
    "NC_000008.11:g.74382740T>G"
  ],
  "externalRecords": {
    "COSMIC": [
      {
        "active": false,
        "id": "COSN20431604"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr8:g.75294975T>G?assembly=hg19",
        "id": "chr8:g.75294975T>G"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr8:g.74382740T>G?assembly=hg38",
        "id": "chr8:g.74382740T>G"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/4471028",
        "rs": 4471028
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/8-75294975-T-G?dataset=gnomad_r2_1",
        "id": "8-75294975-T-G",
        "variant": "8:75294975 T / G"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/8-74382740-T-G?dataset=gnomad_r3",
        "id": "8-74382740-T-G",
        "variant": "8:74382740 T / G"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/8-74382740-T-G?dataset=gnomad_r4",
        "id": "8-74382740-T-G",
        "variant": "8:74382740 T / G"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "8",
      "coordinates": [
        {
          "allele": "G",
          "end": 74382740,
          "referenceAllele": "T",
          "start": 74382739
        }
      ],
      "hgvs": [
        "NC_000008.11:g.74382740T>G",
        "CM000670.2:g.74382740T>G"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000056"
    },
    {
      "chromosome": "8",
      "coordinates": [
        {
          "allele": "G",
          "end": 75294975,
          "referenceAllele": "T",
          "start": 75294974
        }
      ],
      "hgvs": [
        "NC_000008.10:g.75294975T>G",
        "CM000670.1:g.75294975T>G"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000032"
    },
    {
      "chromosome": "8",
      "coordinates": [
        {
          "allele": "G",
          "end": 75457530,
          "referenceAllele": "T",
          "start": 75457529
        }
      ],
      "hgvs": [
        "NC_000008.9:g.75457530T>G"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000008"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 66611,
          "referenceAllele": "T",
          "start": 66610
        }
      ],
      "hgvs": [
        "NG_008787.2:g.66611T>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001214"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 66611,
          "referenceAllele": "T",
          "start": 66610
        }
      ],
      "hgvs": [
        "NG_008787.3:g.66611T>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS616113"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 774,
          "endIntronDirection": "+",
          "endIntronOffset": 18577,
          "referenceAllele": "T",
          "start": 774,
          "startIntronDirection": "+",
          "startIntronOffset": 18576
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015968",
      "geneNCBI_id": 54332,
      "geneSymbol": "GDAP1",
      "hgvs": [
        "ENST00000522568.2:c.*545+18577T>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000430136.1:n.*545+18577T>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS758781"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 224,
          "endIntronDirection": "+",
          "endIntronOffset": 31419,
          "referenceAllele": "T",
          "start": 224,
          "startIntronDirection": "+",
          "startIntronOffset": 31418
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015968",
      "geneNCBI_id": 54332,
      "geneSymbol": "GDAP1",
      "hgvs": [
        "ENST00000523640.2:c.165+31419T>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000502017.1:n.165+31419T>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS758818"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 339,
          "endIntronDirection": "+",
          "endIntronOffset": 19687,
          "referenceAllele": "T",
          "start": 339,
          "startIntronDirection": "+",
          "startIntronOffset": 19686
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015968",
      "geneNCBI_id": 54332,
      "geneSymbol": "GDAP1",
      "hgvs": [
        "ENST00000524195.2:c.280+19687T>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000502308.1:n.280+19687T>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS758838"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 756,
          "endIntronDirection": "+",
          "endIntronOffset": 19687,
          "referenceAllele": "T",
          "start": 756,
          "startIntronDirection": "+",
          "startIntronOffset": 19686
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015968",
      "geneNCBI_id": 54332,
      "geneSymbol": "GDAP1",
      "hgvs": [
        "ENST00000674710.1:c.694+19687T>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000502762.1:n.694+19687T>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS774637"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 577,
          "endIntronDirection": "+",
          "endIntronOffset": 19687,
          "referenceAllele": "T",
          "start": 577,
          "startIntronDirection": "+",
          "startIntronOffset": 19686
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015968",
      "geneNCBI_id": 54332,
      "geneSymbol": "GDAP1",
      "hgvs": [
        "ENST00000674756.1:c.*366+19687T>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000501860.1:n.*366+19687T>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS774675"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 712,
          "endIntronDirection": "+",
          "endIntronOffset": 19687,
          "referenceAllele": "T",
          "start": 712,
          "startIntronDirection": "+",
          "startIntronOffset": 19686
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015968",
      "geneNCBI_id": 54332,
      "geneSymbol": "GDAP1",
      "hgvs": [
        "ENST00000674946.1:c.694+19687T>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000501569.1:n.694+19687T>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS774830"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 608,
          "endIntronDirection": "+",
          "endIntronOffset": 19687,
          "referenceAllele": "T",
          "start": 608,
          "startIntronDirection": "+",
          "startIntronOffset": 19686
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015968",
      "geneNCBI_id": 54332,
      "geneSymbol": "GDAP1",
      "hgvs": [
        "ENST00000675560.1:c.*366+19687T>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000502118.1:n.*366+19687T>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS775360"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 753,
          "endIntronDirection": "+",
          "endIntronOffset": 19687,
          "referenceAllele": "T",
          "start": 753,
          "startIntronDirection": "+",
          "startIntronOffset": 19686
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015968",
      "geneNCBI_id": 54332,
      "geneSymbol": "GDAP1",
      "hgvs": [
        "ENST00000675999.1:c.694+19687T>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000502572.1:n.694+19687T>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS775742"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 743,
          "endIntronDirection": "+",
          "endIntronOffset": 19687,
          "referenceAllele": "T",
          "start": 743,
          "startIntronDirection": "+",
          "startIntronOffset": 19686
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015968",
      "geneNCBI_id": 54332,
      "geneSymbol": "GDAP1",
      "hgvs": [
        "ENST00000676207.1:c.694+19687T>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000502638.1:n.694+19687T>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS775923"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 103,
          "endIntronDirection": "+",
          "endIntronOffset": 19687,
          "referenceAllele": "T",
          "start": 103,
          "startIntronDirection": "+",
          "startIntronOffset": 19686
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015968",
      "geneNCBI_id": 54332,
      "geneSymbol": "GDAP1",
      "hgvs": [
        "ENST00000524195.1:n.103+19687T>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS350403"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 773,
          "endIntronDirection": "+",
          "endIntronOffset": 19687,
          "referenceAllele": "T",
          "start": 773,
          "startIntronDirection": "+",
          "startIntronOffset": 19686
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015968",
      "geneNCBI_id": 54332,
      "geneSymbol": "GDAP1",
      "hgvs": [
        "NM_001362931.1:c.694+19687T>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001349860.1:n.694+19687T>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS523113"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 753,
          "endIntronDirection": "+",
          "endIntronOffset": 19687,
          "referenceAllele": "T",
          "start": 753,
          "startIntronDirection": "+",
          "startIntronOffset": 19686
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015968",
      "geneNCBI_id": 54332,
      "geneSymbol": "GDAP1",
      "hgvs": [
        "NM_001362931.2:c.694+19687T>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001349860.1:n.694+19687T>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS690576"
    }
  ],
  "type": "nucleotide"
}