{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA004201",
  "communityStandardTitle": [
    "NM_004415.4(DSP):c.4915G>A (p.Val1639Met)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=178560[alleleid]",
        "alleleId": 178560,
        "preferredName": "NM_004415.4(DSP):c.4915G>A (p.Val1639Met)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/180331",
        "RCV": [
          "RCV000157201",
          "RCV000797000",
          "RCV001184780",
          "RCV002272145",
          "RCV002336341"
        ],
        "variationId": 180331
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/6-7581338-G-A",
        "id": "6-7581338-G-A",
        "variant": "6:7581338 G / A"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr6:g.7581338G>A?assembly=hg19",
        "id": "chr6:g.7581338G>A"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr6:g.7581105G>A?assembly=hg38",
        "id": "chr6:g.7581105G>A"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/539587517",
        "rs": 539587517
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/6-7581338-G-A?dataset=gnomad_r2_1",
        "id": "6-7581338-G-A",
        "variant": "6:7581338 G / A"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/6-7581105-G-A?dataset=gnomad_r3",
        "id": "6-7581105-G-A",
        "variant": "6:7581105 G / A"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/6-7581105-G-A?dataset=gnomad_r4",
        "id": "6-7581105-G-A",
        "variant": "6:7581105 G / A"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "6",
      "coordinates": [
        {
          "allele": "A",
          "end": 7581105,
          "referenceAllele": "G",
          "start": 7581104
        }
      ],
      "hgvs": [
        "NC_000006.12:g.7581105G>A",
        "CM000668.2:g.7581105G>A"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000054"
    },
    {
      "chromosome": "6",
      "coordinates": [
        {
          "allele": "A",
          "end": 7581338,
          "referenceAllele": "G",
          "start": 7581337
        }
      ],
      "hgvs": [
        "NC_000006.11:g.7581338G>A",
        "CM000668.1:g.7581338G>A"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000030"
    },
    {
      "chromosome": "6",
      "coordinates": [
        {
          "allele": "A",
          "end": 7526337,
          "referenceAllele": "G",
          "start": 7526336
        }
      ],
      "hgvs": [
        "NC_000006.10:g.7526337G>A"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000006"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 44469,
          "referenceAllele": "G",
          "start": 44468
        }
      ],
      "hgvs": [
        "NG_008803.1:g.44469G>A",
        "LRG_423:g.44469G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001222"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 4628,
          "endIntronDirection": "+",
          "endIntronOffset": 865,
          "referenceAllele": "G",
          "start": 4628,
          "startIntronDirection": "+",
          "startIntronOffset": 864
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003052",
      "geneNCBI_id": 1832,
      "geneSymbol": "DSP",
      "hgvs": [
        "ENST00000710359.1:c.4050+865G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000518230.1:n.4050+865G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914523"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 5160,
          "referenceAllele": "G",
          "start": 5159
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003052",
      "geneNCBI_id": 1832,
      "geneSymbol": "DSP",
      "hgvs": [
        "ENST00000379802.8:c.4915G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000369129.3:p.Val1639Met",
        "hgvsWellDefined": "ENSP00000369129.3:p.Val1639Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS752283",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000379802.8:c.4915G>A"
          },
          "RefSeq": {
            "hgvs": "NM_004415.4:c.4915G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000369129.3:p.Val1639Met"
          },
          "RefSeq": {
            "hgvs": "NP_004406.2:p.Val1639Met"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 5256,
          "referenceAllele": "G",
          "start": 5255
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003052",
      "geneNCBI_id": 1832,
      "geneSymbol": "DSP",
      "hgvs": [
        "ENST00000379802.7:c.4915G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000369129.3:p.Val1639Met",
        "hgvsWellDefined": "ENSP00000369129.3:p.Val1639Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS246640"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3881,
          "endIntronDirection": "+",
          "endIntronOffset": 1333,
          "referenceAllele": "G",
          "start": 3881,
          "startIntronDirection": "+",
          "startIntronOffset": 1332
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003052",
      "geneNCBI_id": 1832,
      "geneSymbol": "DSP",
      "hgvs": [
        "ENST00000418664.2:c.3582+1333G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000396591.2:n.3582+1333G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247262"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3861,
          "endIntronDirection": "+",
          "endIntronOffset": 1333,
          "referenceAllele": "G",
          "start": 3861,
          "startIntronDirection": "+",
          "startIntronOffset": 1332
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003052",
      "geneNCBI_id": 1832,
      "geneSymbol": "DSP",
      "hgvs": [
        "NM_001008844.1:c.3582+1333G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001008844.1:n.3582+1333G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS008061"
    },
    {
      "@id": "http://reg.genome.network/allele/PA346302",
      "coordinates": [
        {
          "allele": "A",
          "end": 5194,
          "referenceAllele": "G",
          "start": 5193
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003052",
      "geneNCBI_id": 1832,
      "geneSymbol": "DSP",
      "hgvs": [
        "NM_004415.2:c.4915G>A",
        "LRG_423t1:c.4915G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_004406.2:p.Val1639Met",
        "hgvsWellDefined": "NP_004406.2:p.Val1639Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS029576"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 4391,
          "endIntronDirection": "+",
          "endIntronOffset": 865,
          "referenceAllele": "G",
          "start": 4391,
          "startIntronDirection": "+",
          "startIntronOffset": 864
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003052",
      "geneNCBI_id": 1832,
      "geneSymbol": "DSP",
      "hgvs": [
        "XM_011514323.1:c.4050+865G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011512625.1:n.4050+865G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS081548"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3923,
          "endIntronDirection": "+",
          "endIntronOffset": 1333,
          "referenceAllele": "G",
          "start": 3923,
          "startIntronDirection": "+",
          "startIntronOffset": 1332
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003052",
      "geneNCBI_id": 1832,
      "geneSymbol": "DSP",
      "hgvs": [
        "NM_001008844.2:c.3582+1333G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001008844.1:n.3582+1333G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS510980"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 4391,
          "endIntronDirection": "+",
          "endIntronOffset": 865,
          "referenceAllele": "G",
          "start": 4391,
          "startIntronDirection": "+",
          "startIntronOffset": 864
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003052",
      "geneNCBI_id": 1832,
      "geneSymbol": "DSP",
      "hgvs": [
        "NM_001319034.1:c.4050+865G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001305963.1:n.4050+865G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS513176"
    },
    {
      "@id": "http://reg.genome.network/allele/PA346302",
      "coordinates": [
        {
          "allele": "A",
          "end": 5256,
          "referenceAllele": "G",
          "start": 5255
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003052",
      "geneNCBI_id": 1832,
      "geneSymbol": "DSP",
      "hgvs": [
        "NM_004415.3:c.4915G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_004406.2:p.Val1639Met",
        "hgvsWellDefined": "NP_004406.2:p.Val1639Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS525209"
    },
    {
      "@id": "http://reg.genome.network/allele/PA346302",
      "coordinates": [
        {
          "allele": "A",
          "end": 5160,
          "referenceAllele": "G",
          "start": 5159
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003052",
      "geneNCBI_id": 1832,
      "geneSymbol": "DSP",
      "hgvs": [
        "NM_004415.4:c.4915G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_004406.2:p.Val1639Met",
        "hgvsWellDefined": "NP_004406.2:p.Val1639Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS666469",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000379802.8:c.4915G>A"
          },
          "RefSeq": {
            "hgvs": "NM_004415.4:c.4915G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000369129.3:p.Val1639Met"
          },
          "RefSeq": {
            "hgvs": "NP_004406.2:p.Val1639Met"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3827,
          "endIntronDirection": "+",
          "endIntronOffset": 1333,
          "referenceAllele": "G",
          "start": 3827,
          "startIntronDirection": "+",
          "startIntronOffset": 1332
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003052",
      "geneNCBI_id": 1832,
      "geneSymbol": "DSP",
      "hgvs": [
        "NM_001008844.3:c.3582+1333G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001008844.1:n.3582+1333G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS675337"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 4295,
          "endIntronDirection": "+",
          "endIntronOffset": 865,
          "referenceAllele": "G",
          "start": 4295,
          "startIntronDirection": "+",
          "startIntronOffset": 864
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003052",
      "geneNCBI_id": 1832,
      "geneSymbol": "DSP",
      "hgvs": [
        "NM_001319034.2:c.4050+865G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001305963.1:n.4050+865G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS684679"
    }
  ],
  "type": "nucleotide"
}