{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA047843",
  "communityStandardTitle": [
    "NM_004415.4(DSP):c.6496C>A (p.Arg2166=)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=258449[alleleid]",
        "alleleId": 258449,
        "preferredName": "NM_004415.4(DSP):c.6496C>A (p.Arg2166=)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/264195",
        "RCV": [
          "RCV000243168",
          "RCV001190245",
          "RCV001362836",
          "RCV001589304",
          "RCV003995715"
        ],
        "variationId": 264195
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/6-7583991-C-A",
        "id": "6-7583991-C-A",
        "variant": "6:7583991 C / A"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr6:g.7583991C>A?assembly=hg19",
        "id": "chr6:g.7583991C>A"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr6:g.7583758C>A?assembly=hg38",
        "id": "chr6:g.7583758C>A"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/141026028",
        "rs": 141026028
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/6-7583991-C-A?dataset=gnomad_r2_1",
        "id": "6-7583991-C-A",
        "variant": "6:7583991 C / A"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/6-7583758-C-A?dataset=gnomad_r3",
        "id": "6-7583758-C-A",
        "variant": "6:7583758 C / A"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/6-7583758-C-A?dataset=gnomad_r4",
        "id": "6-7583758-C-A",
        "variant": "6:7583758 C / A"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "6",
      "coordinates": [
        {
          "allele": "A",
          "end": 7583758,
          "referenceAllele": "C",
          "start": 7583757
        }
      ],
      "hgvs": [
        "NC_000006.12:g.7583758C>A",
        "CM000668.2:g.7583758C>A"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000054"
    },
    {
      "chromosome": "6",
      "coordinates": [
        {
          "allele": "A",
          "end": 7583991,
          "referenceAllele": "C",
          "start": 7583990
        }
      ],
      "hgvs": [
        "NC_000006.11:g.7583991C>A",
        "CM000668.1:g.7583991C>A"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000030"
    },
    {
      "chromosome": "6",
      "coordinates": [
        {
          "allele": "A",
          "end": 7528990,
          "referenceAllele": "C",
          "start": 7528989
        }
      ],
      "hgvs": [
        "NC_000006.10:g.7528990C>A"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000006"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 47122,
          "referenceAllele": "C",
          "start": 47121
        }
      ],
      "hgvs": [
        "NG_008803.1:g.47122C>A",
        "LRG_423:g.47122C>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001222"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 5745,
          "referenceAllele": "C",
          "start": 5744
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003052",
      "geneNCBI_id": 1832,
      "geneSymbol": "DSP",
      "hgvs": [
        "ENST00000710359.1:c.5167C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000518230.1:p.Arg1723="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914523"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 6741,
          "referenceAllele": "C",
          "start": 6740
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003052",
      "geneNCBI_id": 1832,
      "geneSymbol": "DSP",
      "hgvs": [
        "ENST00000379802.8:c.6496C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000369129.3:p.Arg2166="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS752283",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000379802.8:c.6496C>A"
          },
          "RefSeq": {
            "hgvs": "NM_004415.4:c.6496C>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000369129.3:p.Arg2166="
          },
          "RefSeq": {
            "hgvs": "NP_004406.2:p.Arg2166="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 6837,
          "referenceAllele": "C",
          "start": 6836
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003052",
      "geneNCBI_id": 1832,
      "geneSymbol": "DSP",
      "hgvs": [
        "ENST00000379802.7:c.6496C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000369129.3:p.Arg2166="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS246640"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 4998,
          "referenceAllele": "C",
          "start": 4997
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003052",
      "geneNCBI_id": 1832,
      "geneSymbol": "DSP",
      "hgvs": [
        "ENST00000418664.2:c.4699C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000396591.2:p.Arg1567="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247262"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825296342",
      "coordinates": [
        {
          "allele": "A",
          "end": 4978,
          "referenceAllele": "C",
          "start": 4977
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003052",
      "geneNCBI_id": 1832,
      "geneSymbol": "DSP",
      "hgvs": [
        "NM_001008844.1:c.4699C>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001008844.1:p.Arg1567="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS008061"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829546305",
      "coordinates": [
        {
          "allele": "A",
          "end": 6775,
          "referenceAllele": "C",
          "start": 6774
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003052",
      "geneNCBI_id": 1832,
      "geneSymbol": "DSP",
      "hgvs": [
        "NM_004415.2:c.6496C>A",
        "LRG_423t1:c.6496C>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_004406.2:p.Arg2166="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS029576"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 5508,
          "referenceAllele": "C",
          "start": 5507
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003052",
      "geneNCBI_id": 1832,
      "geneSymbol": "DSP",
      "hgvs": [
        "XM_011514323.1:c.5167C>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011512625.1:p.Arg1723="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS081548"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825296342",
      "coordinates": [
        {
          "allele": "A",
          "end": 5040,
          "referenceAllele": "C",
          "start": 5039
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003052",
      "geneNCBI_id": 1832,
      "geneSymbol": "DSP",
      "hgvs": [
        "NM_001008844.2:c.4699C>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001008844.1:p.Arg1567="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS510980"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827029160",
      "coordinates": [
        {
          "allele": "A",
          "end": 5508,
          "referenceAllele": "C",
          "start": 5507
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003052",
      "geneNCBI_id": 1832,
      "geneSymbol": "DSP",
      "hgvs": [
        "NM_001319034.1:c.5167C>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001305963.1:p.Arg1723="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS513176"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829546305",
      "coordinates": [
        {
          "allele": "A",
          "end": 6837,
          "referenceAllele": "C",
          "start": 6836
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003052",
      "geneNCBI_id": 1832,
      "geneSymbol": "DSP",
      "hgvs": [
        "NM_004415.3:c.6496C>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_004406.2:p.Arg2166="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS525209"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829546305",
      "coordinates": [
        {
          "allele": "A",
          "end": 6741,
          "referenceAllele": "C",
          "start": 6740
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003052",
      "geneNCBI_id": 1832,
      "geneSymbol": "DSP",
      "hgvs": [
        "NM_004415.4:c.6496C>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_004406.2:p.Arg2166="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS666469",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000379802.8:c.6496C>A"
          },
          "RefSeq": {
            "hgvs": "NM_004415.4:c.6496C>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000369129.3:p.Arg2166="
          },
          "RefSeq": {
            "hgvs": "NP_004406.2:p.Arg2166="
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825296342",
      "coordinates": [
        {
          "allele": "A",
          "end": 4944,
          "referenceAllele": "C",
          "start": 4943
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003052",
      "geneNCBI_id": 1832,
      "geneSymbol": "DSP",
      "hgvs": [
        "NM_001008844.3:c.4699C>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001008844.1:p.Arg1567="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS675337"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827029160",
      "coordinates": [
        {
          "allele": "A",
          "end": 5412,
          "referenceAllele": "C",
          "start": 5411
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003052",
      "geneNCBI_id": 1832,
      "geneSymbol": "DSP",
      "hgvs": [
        "NM_001319034.2:c.5167C>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001305963.1:p.Arg1723="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS684679"
    }
  ],
  "type": "nucleotide"
}