{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA12317742",
  "communityStandardTitle": [
    "NM_016356.5(DCDC2):c.348+23253A>G"
  ],
  "externalRecords": {
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr6:g.24330544T>C?assembly=hg19",
        "id": "chr6:g.24330544T>C"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr6:g.24330316T>C?assembly=hg38",
        "id": "chr6:g.24330316T>C"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/7765678",
        "rs": 7765678
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/6-24330544-T-C?dataset=gnomad_r2_1",
        "id": "6-24330544-T-C",
        "variant": "6:24330544 T / C"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/6-24330316-T-C?dataset=gnomad_r3",
        "id": "6-24330316-T-C",
        "variant": "6:24330316 T / C"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/6-24330316-T-C?dataset=gnomad_r4",
        "id": "6-24330316-T-C",
        "variant": "6:24330316 T / C"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "6",
      "coordinates": [
        {
          "allele": "C",
          "end": 24330316,
          "referenceAllele": "T",
          "start": 24330315
        }
      ],
      "hgvs": [
        "NC_000006.12:g.24330316T>C",
        "CM000668.2:g.24330316T>C"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000054"
    },
    {
      "chromosome": "6",
      "coordinates": [
        {
          "allele": "C",
          "end": 24330544,
          "referenceAllele": "T",
          "start": 24330543
        }
      ],
      "hgvs": [
        "NC_000006.11:g.24330544T>C",
        "CM000668.1:g.24330544T>C"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000030"
    },
    {
      "chromosome": "6",
      "coordinates": [
        {
          "allele": "C",
          "end": 24438523,
          "referenceAllele": "T",
          "start": 24438522
        }
      ],
      "hgvs": [
        "NC_000006.10:g.24438523T>C"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000006"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 32737,
          "referenceAllele": "A",
          "start": 32736
        }
      ],
      "hgvs": [
        "NG_012829.1:g.32737A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS002562"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 57977,
          "referenceAllele": "A",
          "start": 57976
        }
      ],
      "hgvs": [
        "NG_012829.2:g.57977A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS616189"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 657,
          "endIntronDirection": "+",
          "endIntronOffset": 23253,
          "referenceAllele": "A",
          "start": 657,
          "startIntronDirection": "+",
          "startIntronOffset": 23252
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018141",
      "geneNCBI_id": 51473,
      "geneSymbol": "DCDC2",
      "hgvs": [
        "ENST00000378454.8:c.348+23253A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000367715.3:n.348+23253A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS752086",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000378454.8:c.348+23253A>G"
          },
          "RefSeq": {
            "hgvs": "NM_016356.5:c.348+23253A>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000367715.3:n.348+23253A>G"
          },
          "RefSeq": {
            "hgvs": "NP_057440.2:n.348+23253A>G"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 650,
          "endIntronDirection": "+",
          "endIntronOffset": 23253,
          "referenceAllele": "A",
          "start": 650,
          "startIntronDirection": "+",
          "startIntronOffset": 23252
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018141",
      "geneNCBI_id": 51473,
      "geneSymbol": "DCDC2",
      "hgvs": [
        "ENST00000378454.7:c.348+23253A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000367715.3:n.348+23253A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS272037"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 557,
          "endIntronDirection": "+",
          "endIntronOffset": 23253,
          "referenceAllele": "A",
          "start": 557,
          "startIntronDirection": "+",
          "startIntronOffset": 23252
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018141",
      "geneNCBI_id": 51473,
      "geneSymbol": "DCDC2",
      "hgvs": [
        "NM_001195610.1:c.348+23253A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001182539.1:n.348+23253A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS016643"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 650,
          "endIntronDirection": "+",
          "endIntronOffset": 23253,
          "referenceAllele": "A",
          "start": 650,
          "startIntronDirection": "+",
          "startIntronOffset": 23252
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018141",
      "geneNCBI_id": 51473,
      "geneSymbol": "DCDC2",
      "hgvs": [
        "NM_016356.4:c.348+23253A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_057440.2:n.348+23253A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS034641"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 657,
          "endIntronDirection": "+",
          "endIntronOffset": 23253,
          "referenceAllele": "A",
          "start": 657,
          "startIntronDirection": "+",
          "startIntronOffset": 23252
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018141",
      "geneNCBI_id": 51473,
      "geneSymbol": "DCDC2",
      "hgvs": [
        "NM_016356.5:c.348+23253A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_057440.2:n.348+23253A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS669100",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000378454.8:c.348+23253A>G"
          },
          "RefSeq": {
            "hgvs": "NM_016356.5:c.348+23253A>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000367715.3:n.348+23253A>G"
          },
          "RefSeq": {
            "hgvs": "NP_057440.2:n.348+23253A>G"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 557,
          "endIntronDirection": "+",
          "endIntronOffset": 23253,
          "referenceAllele": "A",
          "start": 557,
          "startIntronDirection": "+",
          "startIntronOffset": 23252
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018141",
      "geneNCBI_id": 51473,
      "geneSymbol": "DCDC2",
      "hgvs": [
        "NM_001195610.2:c.348+23253A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001182539.1:n.348+23253A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS713826"
    }
  ],
  "type": "nucleotide"
}