{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA2422736462",
  "communityStandardTitle": [
    "NM_004006.3(DMD):c.6139C= (p.Gln2047=)"
  ],
  "externalRecords": {
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/1057516028",
        "rs": 1057516028
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "X",
      "coordinates": [
        {
          "allele": "G",
          "end": 32287680,
          "referenceAllele": "G",
          "start": 32287679
        }
      ],
      "hgvs": [
        "NC_000023.11:g.32287680G=",
        "CM000685.2:g.32287680G="
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000071"
    },
    {
      "chromosome": "X",
      "coordinates": [
        {
          "allele": "G",
          "end": 32305797,
          "referenceAllele": "G",
          "start": 32305796
        }
      ],
      "hgvs": [
        "NC_000023.10:g.32305797G=",
        "CM000685.1:g.32305797G="
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000047"
    },
    {
      "chromosome": "X",
      "coordinates": [
        {
          "allele": "G",
          "end": 32215718,
          "referenceAllele": "G",
          "start": 32215717
        }
      ],
      "hgvs": [
        "NC_000023.9:g.32215718G="
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000023"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1056930,
          "referenceAllele": "C",
          "start": 1056929
        }
      ],
      "hgvs": [
        "NG_012232.1:g.1056930C=",
        "LRG_199:g.1056930C="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS002304"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 985,
          "referenceAllele": "C",
          "start": 984
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "ENST00000358062.7:c.985C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000350765.3:p.Gln329="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS904459"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 6376,
          "referenceAllele": "C",
          "start": 6375
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "ENST00000357033.9:c.6139C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000354923.3:p.Gln2047="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS748881",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000357033.9:c.6139C="
          },
          "RefSeq": {
            "hgvs": "NM_004006.3:c.6139C="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000354923.3:p.Gln2047="
          },
          "RefSeq": {
            "hgvs": "NP_003997.2:p.Gln2047="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2287,
          "referenceAllele": "C",
          "start": 2286
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "ENST00000619831.5:c.2107C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000479270.2:p.Gln703="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS762247"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 6346,
          "referenceAllele": "C",
          "start": 6345
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "ENST00000357033.8:c.6139C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000354923.3:p.Gln2047="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS263955"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 6322,
          "referenceAllele": "C",
          "start": 6321
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "ENST00000378677.6:c.6127C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000367948.2:p.Gln2043="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS272146"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 335,
          "endIntronDirection": "-",
          "endIntronOffset": 70616,
          "referenceAllele": "C",
          "start": 335,
          "startIntronDirection": "-",
          "startIntronOffset": 70617
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "ENST00000488902.5:n.336-70617C="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS327073"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 6127,
          "referenceAllele": "C",
          "start": 6126
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "ENST00000619831.4:c.6127C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000479270.1:p.Gln2043="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS404545"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 6139,
          "referenceAllele": "C",
          "start": 6138
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "ENST00000620040.4:c.6139C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000478150.1:p.Gln2047="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS404642"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 6459,
          "referenceAllele": "C",
          "start": 6458
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "NM_000109.3:c.6115C="
      ],
      "proteinEffect": {
        "hgvs": "NP_000100.2:p.Gln2039="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006172"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 6383,
          "referenceAllele": "C",
          "start": 6382
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "NM_004006.2:c.6139C=",
        "LRG_199t1:c.6139C="
      ],
      "proteinEffect": {
        "hgvs": "NP_003997.1:p.Gln2047="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS029203"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 6390,
          "referenceAllele": "C",
          "start": 6389
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "NM_004009.3:c.6127C="
      ],
      "proteinEffect": {
        "hgvs": "NP_004000.1:p.Gln2043="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS029204"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 6473,
          "referenceAllele": "C",
          "start": 6472
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "NM_004010.3:c.5770C="
      ],
      "proteinEffect": {
        "hgvs": "NP_004001.1:p.Gln1924="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS029205"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2161,
          "referenceAllele": "C",
          "start": 2160
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "NM_004011.3:c.2116C="
      ],
      "proteinEffect": {
        "hgvs": "NP_004002.2:p.Gln706="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS029206"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2304,
          "referenceAllele": "C",
          "start": 2303
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "NM_004012.3:c.2107C="
      ],
      "proteinEffect": {
        "hgvs": "NP_004003.1:p.Gln703="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS029207"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 6336,
          "referenceAllele": "C",
          "start": 6335
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "XM_006724468.2:c.6139C="
      ],
      "proteinEffect": {
        "hgvs": "XP_006724531.1:p.Gln2047="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS075527"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 6218,
          "referenceAllele": "C",
          "start": 6217
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "XM_006724469.2:c.6115C="
      ],
      "proteinEffect": {
        "hgvs": "XP_006724532.1:p.Gln2039="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS075528"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 6336,
          "referenceAllele": "C",
          "start": 6335
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "XM_006724470.2:c.6139C="
      ],
      "proteinEffect": {
        "hgvs": "XP_006724533.1:p.Gln2047="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS075529"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 6336,
          "referenceAllele": "C",
          "start": 6335
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "XM_006724471.2:c.6139C="
      ],
      "proteinEffect": {
        "hgvs": "XP_006724534.1:p.Gln2047="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS075530"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 6207,
          "referenceAllele": "C",
          "start": 6206
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "XM_006724472.2:c.6010C="
      ],
      "proteinEffect": {
        "hgvs": "XP_006724535.1:p.Gln2004="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS075531"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 6198,
          "referenceAllele": "C",
          "start": 6197
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "XM_006724473.2:c.6001C="
      ],
      "proteinEffect": {
        "hgvs": "XP_006724536.1:p.Gln2001="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS075532"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 6336,
          "referenceAllele": "C",
          "start": 6335
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "XM_006724474.2:c.6139C="
      ],
      "proteinEffect": {
        "hgvs": "XP_006724537.1:p.Gln2047="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS075533"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 6336,
          "referenceAllele": "C",
          "start": 6335
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "XM_006724475.2:c.6139C="
      ],
      "proteinEffect": {
        "hgvs": "XP_006724538.1:p.Gln2047="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS075534"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 6213,
          "referenceAllele": "C",
          "start": 6212
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "XM_011545467.1:c.6016C="
      ],
      "proteinEffect": {
        "hgvs": "XP_011543769.1:p.Gln2006="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS112367"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 6336,
          "referenceAllele": "C",
          "start": 6335
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "XM_011545468.1:c.6139C="
      ],
      "proteinEffect": {
        "hgvs": "XP_011543770.1:p.Gln2047="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS112368"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 6310,
          "referenceAllele": "C",
          "start": 6309
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "XM_006724469.3:c.6115C="
      ],
      "proteinEffect": {
        "hgvs": "XP_006724532.1:p.Gln2039="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS540982"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 6336,
          "referenceAllele": "C",
          "start": 6335
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "XM_006724470.3:c.6139C="
      ],
      "proteinEffect": {
        "hgvs": "XP_006724533.1:p.Gln2047="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS540983"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 6336,
          "referenceAllele": "C",
          "start": 6335
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "XM_006724474.3:c.6139C="
      ],
      "proteinEffect": {
        "hgvs": "XP_006724537.1:p.Gln2047="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS540984"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 6336,
          "referenceAllele": "C",
          "start": 6335
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "XM_011545468.2:c.6139C="
      ],
      "proteinEffect": {
        "hgvs": "XP_011543770.1:p.Gln2047="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS556096"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 6336,
          "referenceAllele": "C",
          "start": 6335
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "XM_017029328.1:c.6139C="
      ],
      "proteinEffect": {
        "hgvs": "XP_016884817.1:p.Gln2047="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS578892"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 6336,
          "referenceAllele": "C",
          "start": 6335
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "XM_017029329.1:c.6139C="
      ],
      "proteinEffect": {
        "hgvs": "XP_016884818.1:p.Gln2047="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS578893"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 6336,
          "referenceAllele": "C",
          "start": 6335
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "XM_017029330.2:c.6139C="
      ],
      "proteinEffect": {
        "hgvs": "XP_016884819.1:p.Gln2047="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS578894"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 912,
          "referenceAllele": "C",
          "start": 911
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "XM_017029331.1:c.313C="
      ],
      "proteinEffect": {
        "hgvs": "XP_016884820.1:p.Gln105="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS578895"
    },
    {
      "@id": "http://reg.genome.network/allele/PA3063325023",
      "coordinates": [
        {
          "allele": "C",
          "end": 6238,
          "referenceAllele": "C",
          "start": 6237
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "NM_000109.4:c.6115C="
      ],
      "proteinEffect": {
        "hgvs": "NP_000100.3:p.Gln2039="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS674704"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 6376,
          "referenceAllele": "C",
          "start": 6375
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "NM_004006.3:c.6139C="
      ],
      "proteinEffect": {
        "hgvs": "NP_003997.2:p.Gln2047="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS696014",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000357033.9:c.6139C="
          },
          "RefSeq": {
            "hgvs": "NM_004006.3:c.6139C="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000354923.3:p.Gln2047="
          },
          "RefSeq": {
            "hgvs": "NP_003997.2:p.Gln2047="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2135,
          "referenceAllele": "C",
          "start": 2134
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "NM_004011.4:c.2116C="
      ],
      "proteinEffect": {
        "hgvs": "NP_004002.3:p.Gln706="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS696015"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2278,
          "referenceAllele": "C",
          "start": 2277
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "NM_004012.4:c.2107C="
      ],
      "proteinEffect": {
        "hgvs": "NP_004003.2:p.Gln703="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS696016"
    }
  ],
  "type": "nucleotide"
}