{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA12883963",
  "communityStandardTitle": [
    "NM_030788.4(DCSTAMP):c.-12-1337C>T"
  ],
  "externalRecords": {
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr8:g.105359432C>T?assembly=hg19",
        "id": "chr8:g.105359432C>T"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr8:g.104347204C>T?assembly=hg38",
        "id": "chr8:g.104347204C>T"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/2458413",
        "rs": 2458413
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/8-105359432-C-T?dataset=gnomad_r2_1",
        "id": "8-105359432-C-T",
        "variant": "8:105359432 C / T"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/8-104347204-C-T?dataset=gnomad_r3",
        "id": "8-104347204-C-T",
        "variant": "8:104347204 C / T"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/8-104347204-C-T?dataset=gnomad_r4",
        "id": "8-104347204-C-T",
        "variant": "8:104347204 C / T"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "8",
      "coordinates": [
        {
          "allele": "T",
          "end": 104347204,
          "referenceAllele": "C",
          "start": 104347203
        }
      ],
      "hgvs": [
        "NC_000008.11:g.104347204C>T",
        "CM000670.2:g.104347204C>T"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000056"
    },
    {
      "chromosome": "8",
      "coordinates": [
        {
          "allele": "T",
          "end": 105359432,
          "referenceAllele": "C",
          "start": 105359431
        }
      ],
      "hgvs": [
        "NC_000008.10:g.105359432C>T",
        "CM000670.1:g.105359432C>T"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000032"
    },
    {
      "chromosome": "8",
      "coordinates": [
        {
          "allele": "T",
          "end": 105428608,
          "referenceAllele": "C",
          "start": 105428607
        }
      ],
      "hgvs": [
        "NC_000008.9:g.105428608C>T"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000008"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 37,
          "endIntronDirection": "-",
          "endIntronOffset": 1336,
          "referenceAllele": "C",
          "start": 37,
          "startIntronDirection": "-",
          "startIntronOffset": 1337
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018549",
      "geneNCBI_id": 81501,
      "geneSymbol": "DCSTAMP",
      "hgvs": [
        "ENST00000297581.2:c.-12-1337C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000297581.2:n.-12-1337C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS254498",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000297581.2:c.-12-1337C>T"
          },
          "RefSeq": {
            "hgvs": "NM_030788.4:c.-12-1337C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000297581.2:n.-12-1337C>T"
          },
          "RefSeq": {
            "hgvs": "NP_110415.1:n.-12-1337C>T"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 329,
          "endIntronDirection": "-",
          "endIntronOffset": 1336,
          "referenceAllele": "C",
          "start": 329,
          "startIntronDirection": "-",
          "startIntronOffset": 1337
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018549",
      "geneNCBI_id": 81501,
      "geneSymbol": "DCSTAMP",
      "hgvs": [
        "ENST00000517364.1:n.330-1337C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS345061"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 191,
          "endIntronDirection": "-",
          "endIntronOffset": 1336,
          "referenceAllele": "C",
          "start": 191,
          "startIntronDirection": "-",
          "startIntronOffset": 1337
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018549",
      "geneNCBI_id": 81501,
      "geneSymbol": "DCSTAMP",
      "hgvs": [
        "ENST00000518023.5:n.192-1337C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS345565"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 436,
          "endIntronDirection": "-",
          "endIntronOffset": 1336,
          "referenceAllele": "C",
          "start": 436,
          "startIntronDirection": "-",
          "startIntronOffset": 1337
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018549",
      "geneNCBI_id": 81501,
      "geneSymbol": "DCSTAMP",
      "hgvs": [
        "ENST00000519562.1:n.437-1337C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS346784"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 328,
          "endIntronDirection": "-",
          "endIntronOffset": 15239,
          "referenceAllele": "G",
          "start": 328,
          "startIntronDirection": "-",
          "startIntronOffset": 15240
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003013",
      "geneNCBI_id": 1807,
      "geneSymbol": "DPYS",
      "hgvs": [
        "ENST00000521601.1:n.329-15240G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS348385"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 67,
          "endIntronDirection": "-",
          "endIntronOffset": 1336,
          "referenceAllele": "C",
          "start": 67,
          "startIntronDirection": "-",
          "startIntronOffset": 1337
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018549",
      "geneNCBI_id": 81501,
      "geneSymbol": "DCSTAMP",
      "hgvs": [
        "ENST00000622554.1:c.-12-1337C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000480546.1:n.-12-1337C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS405786"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 67,
          "endIntronDirection": "-",
          "endIntronOffset": 1336,
          "referenceAllele": "C",
          "start": 67,
          "startIntronDirection": "-",
          "startIntronOffset": 1337
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018549",
      "geneNCBI_id": 81501,
      "geneSymbol": "DCSTAMP",
      "hgvs": [
        "NM_001257317.1:c.-12-1337C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001244246.1:n.-12-1337C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS019593"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 67,
          "endIntronDirection": "-",
          "endIntronOffset": 1336,
          "referenceAllele": "C",
          "start": 67,
          "startIntronDirection": "-",
          "startIntronOffset": 1337
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018549",
      "geneNCBI_id": 81501,
      "geneSymbol": "DCSTAMP",
      "hgvs": [
        "NM_030788.3:c.-12-1337C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_110415.1:n.-12-1337C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS038423"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 191,
          "endIntronDirection": "-",
          "endIntronOffset": 1336,
          "referenceAllele": "C",
          "start": 191,
          "startIntronDirection": "-",
          "startIntronOffset": 1337
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018549",
      "geneNCBI_id": 81501,
      "geneSymbol": "DCSTAMP",
      "hgvs": [
        "XM_005251075.1:c.-12-1337C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005251132.1:n.-12-1337C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS059412"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 436,
          "endIntronDirection": "-",
          "endIntronOffset": 1336,
          "referenceAllele": "C",
          "start": 436,
          "startIntronDirection": "-",
          "startIntronOffset": 1337
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018549",
      "geneNCBI_id": 81501,
      "geneSymbol": "DCSTAMP",
      "hgvs": [
        "XM_011517321.1:c.-12-1337C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011515623.1:n.-12-1337C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS084519"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 191,
          "endIntronDirection": "-",
          "endIntronOffset": 1336,
          "referenceAllele": "C",
          "start": 191,
          "startIntronDirection": "-",
          "startIntronOffset": 1337
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018549",
      "geneNCBI_id": 81501,
      "geneSymbol": "DCSTAMP",
      "hgvs": [
        "XM_011517322.1:c.-12-1337C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011515624.1:n.-12-1337C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS084520"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 191,
          "endIntronDirection": "-",
          "endIntronOffset": 1336,
          "referenceAllele": "C",
          "start": 191,
          "startIntronDirection": "-",
          "startIntronOffset": 1337
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018549",
      "geneNCBI_id": 81501,
      "geneSymbol": "DCSTAMP",
      "hgvs": [
        "XM_011517323.1:c.-12-1337C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011515625.1:n.-12-1337C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS084521"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 436,
          "endIntronDirection": "-",
          "endIntronOffset": 1336,
          "referenceAllele": "C",
          "start": 436,
          "startIntronDirection": "-",
          "startIntronOffset": 1337
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018549",
      "geneNCBI_id": 81501,
      "geneSymbol": "DCSTAMP",
      "hgvs": [
        "XM_011517324.1:c.-12-1337C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011515626.1:n.-12-1337C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS084522"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 191,
          "endIntronDirection": "-",
          "endIntronOffset": 1336,
          "referenceAllele": "C",
          "start": 191,
          "startIntronDirection": "-",
          "startIntronOffset": 1337
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018549",
      "geneNCBI_id": 81501,
      "geneSymbol": "DCSTAMP",
      "hgvs": [
        "XM_024447288.1:c.-12-1337C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_024303056.1:n.-12-1337C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS580874"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 191,
          "endIntronDirection": "-",
          "endIntronOffset": 1336,
          "referenceAllele": "C",
          "start": 191,
          "startIntronDirection": "-",
          "startIntronOffset": 1337
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018549",
      "geneNCBI_id": 81501,
      "geneSymbol": "DCSTAMP",
      "hgvs": [
        "XM_024447289.1:c.-12-1337C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_024303057.1:n.-12-1337C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS580875"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 191,
          "endIntronDirection": "-",
          "endIntronOffset": 1336,
          "referenceAllele": "C",
          "start": 191,
          "startIntronDirection": "-",
          "startIntronOffset": 1337
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018549",
      "geneNCBI_id": 81501,
      "geneSymbol": "DCSTAMP",
      "hgvs": [
        "XM_024447290.1:c.-12-1337C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_024303058.1:n.-12-1337C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS580876"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 37,
          "endIntronDirection": "-",
          "endIntronOffset": 1336,
          "referenceAllele": "C",
          "start": 37,
          "startIntronDirection": "-",
          "startIntronOffset": 1337
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018549",
      "geneNCBI_id": 81501,
      "geneSymbol": "DCSTAMP",
      "hgvs": [
        "NM_030788.4:c.-12-1337C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_110415.1:n.-12-1337C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS671011",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000297581.2:c.-12-1337C>T"
          },
          "RefSeq": {
            "hgvs": "NM_030788.4:c.-12-1337C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000297581.2:n.-12-1337C>T"
          },
          "RefSeq": {
            "hgvs": "NP_110415.1:n.-12-1337C>T"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}