{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA1608616623",
  "communityStandardTitle": [
    "NM_004415.4(DSP):c.4180C= (p.Gln1394=)"
  ],
  "externalRecords": {
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/140474226",
        "rs": 140474226
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "6",
      "coordinates": [
        {
          "allele": "C",
          "end": 7580370,
          "referenceAllele": "C",
          "start": 7580369
        }
      ],
      "hgvs": [
        "NC_000006.12:g.7580370C=",
        "CM000668.2:g.7580370C="
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000054"
    },
    {
      "chromosome": "6",
      "coordinates": [
        {
          "allele": "C",
          "end": 7580603,
          "referenceAllele": "C",
          "start": 7580602
        }
      ],
      "hgvs": [
        "NC_000006.11:g.7580603C=",
        "CM000668.1:g.7580603C="
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000030"
    },
    {
      "chromosome": "6",
      "coordinates": [
        {
          "allele": "C",
          "end": 7525602,
          "referenceAllele": "C",
          "start": 7525601
        }
      ],
      "hgvs": [
        "NC_000006.10:g.7525602C="
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000006"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 43734,
          "referenceAllele": "C",
          "start": 43733
        }
      ],
      "hgvs": [
        "NG_008803.1:g.43734C=",
        "LRG_423:g.43734C="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001222"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 4628,
          "endIntronDirection": "+",
          "endIntronOffset": 130,
          "referenceAllele": "C",
          "start": 4628,
          "startIntronDirection": "+",
          "startIntronOffset": 129
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003052",
      "geneNCBI_id": 1832,
      "geneSymbol": "DSP",
      "hgvs": [
        "ENST00000710359.1:c.4050+130C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000518230.1:n.4050+130C="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914523"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 4425,
          "referenceAllele": "C",
          "start": 4424
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003052",
      "geneNCBI_id": 1832,
      "geneSymbol": "DSP",
      "hgvs": [
        "ENST00000379802.8:c.4180C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000369129.3:p.Gln1394="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS752283",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000379802.8:c.4180C="
          },
          "RefSeq": {
            "hgvs": "NM_004415.4:c.4180C="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000369129.3:p.Gln1394="
          },
          "RefSeq": {
            "hgvs": "NP_004406.2:p.Gln1394="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 4521,
          "referenceAllele": "C",
          "start": 4520
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003052",
      "geneNCBI_id": 1832,
      "geneSymbol": "DSP",
      "hgvs": [
        "ENST00000379802.7:c.4180C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000369129.3:p.Gln1394="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS246640"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 3881,
          "endIntronDirection": "+",
          "endIntronOffset": 598,
          "referenceAllele": "C",
          "start": 3881,
          "startIntronDirection": "+",
          "startIntronOffset": 597
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003052",
      "geneNCBI_id": 1832,
      "geneSymbol": "DSP",
      "hgvs": [
        "ENST00000418664.2:c.3582+598C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000396591.2:n.3582+598C="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247262"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 3861,
          "endIntronDirection": "+",
          "endIntronOffset": 598,
          "referenceAllele": "C",
          "start": 3861,
          "startIntronDirection": "+",
          "startIntronOffset": 597
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003052",
      "geneNCBI_id": 1832,
      "geneSymbol": "DSP",
      "hgvs": [
        "NM_001008844.1:c.3582+598C="
      ],
      "proteinEffect": {
        "hgvs": "NP_001008844.1:n.3582+598C="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS008061"
    },
    {
      "@id": "http://reg.genome.network/allele/PA3072157121",
      "coordinates": [
        {
          "allele": "C",
          "end": 4459,
          "referenceAllele": "C",
          "start": 4458
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003052",
      "geneNCBI_id": 1832,
      "geneSymbol": "DSP",
      "hgvs": [
        "NM_004415.2:c.4180C=",
        "LRG_423t1:c.4180C="
      ],
      "proteinEffect": {
        "hgvs": "NP_004406.2:p.Gln1394="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS029576"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 4391,
          "endIntronDirection": "+",
          "endIntronOffset": 130,
          "referenceAllele": "C",
          "start": 4391,
          "startIntronDirection": "+",
          "startIntronOffset": 129
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003052",
      "geneNCBI_id": 1832,
      "geneSymbol": "DSP",
      "hgvs": [
        "XM_011514323.1:c.4050+130C="
      ],
      "proteinEffect": {
        "hgvs": "XP_011512625.1:n.4050+130C="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS081548"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 3923,
          "endIntronDirection": "+",
          "endIntronOffset": 598,
          "referenceAllele": "C",
          "start": 3923,
          "startIntronDirection": "+",
          "startIntronOffset": 597
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003052",
      "geneNCBI_id": 1832,
      "geneSymbol": "DSP",
      "hgvs": [
        "NM_001008844.2:c.3582+598C="
      ],
      "proteinEffect": {
        "hgvs": "NP_001008844.1:n.3582+598C="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS510980"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 4391,
          "endIntronDirection": "+",
          "endIntronOffset": 130,
          "referenceAllele": "C",
          "start": 4391,
          "startIntronDirection": "+",
          "startIntronOffset": 129
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003052",
      "geneNCBI_id": 1832,
      "geneSymbol": "DSP",
      "hgvs": [
        "NM_001319034.1:c.4050+130C="
      ],
      "proteinEffect": {
        "hgvs": "NP_001305963.1:n.4050+130C="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS513176"
    },
    {
      "@id": "http://reg.genome.network/allele/PA3072157121",
      "coordinates": [
        {
          "allele": "C",
          "end": 4521,
          "referenceAllele": "C",
          "start": 4520
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003052",
      "geneNCBI_id": 1832,
      "geneSymbol": "DSP",
      "hgvs": [
        "NM_004415.3:c.4180C="
      ],
      "proteinEffect": {
        "hgvs": "NP_004406.2:p.Gln1394="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS525209"
    },
    {
      "@id": "http://reg.genome.network/allele/PA3072157121",
      "coordinates": [
        {
          "allele": "C",
          "end": 4425,
          "referenceAllele": "C",
          "start": 4424
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003052",
      "geneNCBI_id": 1832,
      "geneSymbol": "DSP",
      "hgvs": [
        "NM_004415.4:c.4180C="
      ],
      "proteinEffect": {
        "hgvs": "NP_004406.2:p.Gln1394="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS666469",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000379802.8:c.4180C="
          },
          "RefSeq": {
            "hgvs": "NM_004415.4:c.4180C="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000369129.3:p.Gln1394="
          },
          "RefSeq": {
            "hgvs": "NP_004406.2:p.Gln1394="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 3827,
          "endIntronDirection": "+",
          "endIntronOffset": 598,
          "referenceAllele": "C",
          "start": 3827,
          "startIntronDirection": "+",
          "startIntronOffset": 597
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003052",
      "geneNCBI_id": 1832,
      "geneSymbol": "DSP",
      "hgvs": [
        "NM_001008844.3:c.3582+598C="
      ],
      "proteinEffect": {
        "hgvs": "NP_001008844.1:n.3582+598C="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS675337"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 4295,
          "endIntronDirection": "+",
          "endIntronOffset": 130,
          "referenceAllele": "C",
          "start": 4295,
          "startIntronDirection": "+",
          "startIntronOffset": 129
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003052",
      "geneNCBI_id": 1832,
      "geneSymbol": "DSP",
      "hgvs": [
        "NM_001319034.2:c.4050+130C="
      ],
      "proteinEffect": {
        "hgvs": "NP_001305963.1:n.4050+130C="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS684679"
    }
  ],
  "type": "nucleotide"
}