{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA823272316",
  "communityStandardTitle": [
    "NM_016356.5(DCDC2):c.923-1798A>T"
  ],
  "externalRecords": {
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr6:g.24207128T>A?assembly=hg19",
        "id": "chr6:g.24207128T>A"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr6:g.24206900T>A?assembly=hg38",
        "id": "chr6:g.24206900T>A"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/147064489",
        "rs": 147064489
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/6-24206900-T-A?dataset=gnomad_r3",
        "id": "6-24206900-T-A",
        "variant": "6:24206900 T / A"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/6-24206900-T-A?dataset=gnomad_r4",
        "id": "6-24206900-T-A",
        "variant": "6:24206900 T / A"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "6",
      "coordinates": [
        {
          "allele": "A",
          "end": 24206900,
          "referenceAllele": "T",
          "start": 24206899
        }
      ],
      "hgvs": [
        "NC_000006.12:g.24206900T>A",
        "CM000668.2:g.24206900T>A"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000054"
    },
    {
      "chromosome": "6",
      "coordinates": [
        {
          "allele": "A",
          "end": 24207128,
          "referenceAllele": "T",
          "start": 24207127
        }
      ],
      "hgvs": [
        "NC_000006.11:g.24207128T>A",
        "CM000668.1:g.24207128T>A"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000030"
    },
    {
      "chromosome": "6",
      "coordinates": [
        {
          "allele": "A",
          "end": 24315107,
          "referenceAllele": "T",
          "start": 24315106
        }
      ],
      "hgvs": [
        "NC_000006.10:g.24315107T>A"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000006"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 156153,
          "referenceAllele": "A",
          "start": 156152
        }
      ],
      "hgvs": [
        "NG_012829.1:g.156153A>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS002562"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 181393,
          "referenceAllele": "A",
          "start": 181392
        }
      ],
      "hgvs": [
        "NG_012829.2:g.181393A>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS616189"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1231,
          "endIntronDirection": "-",
          "endIntronOffset": 1797,
          "referenceAllele": "A",
          "start": 1231,
          "startIntronDirection": "-",
          "startIntronOffset": 1798
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018141",
      "geneNCBI_id": 51473,
      "geneSymbol": "DCDC2",
      "hgvs": [
        "ENST00000378454.8:c.923-1798A>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000367715.3:n.923-1798A>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS752086",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000378454.8:c.923-1798A>T"
          },
          "RefSeq": {
            "hgvs": "NM_016356.5:c.923-1798A>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000367715.3:n.923-1798A>T"
          },
          "RefSeq": {
            "hgvs": "NP_057440.2:n.923-1798A>T"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1224,
          "endIntronDirection": "-",
          "endIntronOffset": 1797,
          "referenceAllele": "A",
          "start": 1224,
          "startIntronDirection": "-",
          "startIntronOffset": 1798
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018141",
      "geneNCBI_id": 51473,
      "geneSymbol": "DCDC2",
      "hgvs": [
        "ENST00000378454.7:c.923-1798A>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000367715.3:n.923-1798A>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS272037"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1131,
          "endIntronDirection": "-",
          "endIntronOffset": 1797,
          "referenceAllele": "A",
          "start": 1131,
          "startIntronDirection": "-",
          "startIntronOffset": 1798
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018141",
      "geneNCBI_id": 51473,
      "geneSymbol": "DCDC2",
      "hgvs": [
        "NM_001195610.1:c.923-1798A>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001182539.1:n.923-1798A>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS016643"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1224,
          "endIntronDirection": "-",
          "endIntronOffset": 1797,
          "referenceAllele": "A",
          "start": 1224,
          "startIntronDirection": "-",
          "startIntronOffset": 1798
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018141",
      "geneNCBI_id": 51473,
      "geneSymbol": "DCDC2",
      "hgvs": [
        "NM_016356.4:c.923-1798A>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_057440.2:n.923-1798A>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS034641"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1231,
          "endIntronDirection": "-",
          "endIntronOffset": 1797,
          "referenceAllele": "A",
          "start": 1231,
          "startIntronDirection": "-",
          "startIntronOffset": 1798
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018141",
      "geneNCBI_id": 51473,
      "geneSymbol": "DCDC2",
      "hgvs": [
        "NM_016356.5:c.923-1798A>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_057440.2:n.923-1798A>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS669100",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000378454.8:c.923-1798A>T"
          },
          "RefSeq": {
            "hgvs": "NM_016356.5:c.923-1798A>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000367715.3:n.923-1798A>T"
          },
          "RefSeq": {
            "hgvs": "NP_057440.2:n.923-1798A>T"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1131,
          "endIntronDirection": "-",
          "endIntronOffset": 1797,
          "referenceAllele": "A",
          "start": 1131,
          "startIntronDirection": "-",
          "startIntronOffset": 1798
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018141",
      "geneNCBI_id": 51473,
      "geneSymbol": "DCDC2",
      "hgvs": [
        "NM_001195610.2:c.923-1798A>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001182539.1:n.923-1798A>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS713826"
    }
  ],
  "type": "nucleotide"
}