{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA10605919",
  "communityStandardTitle": [
    "NM_004006.3(DMD):c.2344A>C (p.Arg782=)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=272176[alleleid]",
        "alleleId": 272176,
        "preferredName": "NM_004006.3(DMD):c.2344A>C (p.Arg782=)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/287939",
        "RCV": [
          "RCV000317337",
          "RCV002518005"
        ],
        "variationId": 287939
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chrX:g.32519908T>G?assembly=hg19",
        "id": "chrX:g.32519908T>G"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chrX:g.32501791T>G?assembly=hg38",
        "id": "chrX:g.32501791T>G"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/886043764",
        "rs": 886043764
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/X-32501791-T-G?dataset=gnomad_r3",
        "id": "X-32501791-T-G",
        "variant": "X:32501791 T / G"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/X-32501791-T-G?dataset=gnomad_r4",
        "id": "X-32501791-T-G",
        "variant": "X:32501791 T / G"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "X",
      "coordinates": [
        {
          "allele": "G",
          "end": 32501791,
          "referenceAllele": "T",
          "start": 32501790
        }
      ],
      "hgvs": [
        "NC_000023.11:g.32501791T>G",
        "CM000685.2:g.32501791T>G"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000071"
    },
    {
      "chromosome": "X",
      "coordinates": [
        {
          "allele": "G",
          "end": 32519908,
          "referenceAllele": "T",
          "start": 32519907
        }
      ],
      "hgvs": [
        "NC_000023.10:g.32519908T>G",
        "CM000685.1:g.32519908T>G"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000047"
    },
    {
      "chromosome": "X",
      "coordinates": [
        {
          "allele": "G",
          "end": 32429829,
          "referenceAllele": "T",
          "start": 32429828
        }
      ],
      "hgvs": [
        "NC_000023.9:g.32429829T>G"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000023"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 842819,
          "referenceAllele": "A",
          "start": 842818
        }
      ],
      "hgvs": [
        "NG_012232.1:g.842819A>C",
        "LRG_199:g.842819A>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS002304"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2551,
          "referenceAllele": "A",
          "start": 2550
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "ENST00000682899.1:n.2551A>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS827887"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2551,
          "referenceAllele": "A",
          "start": 2550
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "ENST00000683985.1:n.2551A>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS828948"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2581,
          "referenceAllele": "A",
          "start": 2580
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "ENST00000357033.9:c.2344A>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000354923.3:p.Arg782="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS748881",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000357033.9:c.2344A>C"
          },
          "RefSeq": {
            "hgvs": "NM_004006.3:c.2344A>C"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000354923.3:p.Arg782="
          },
          "RefSeq": {
            "hgvs": "NP_003997.2:p.Arg782="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2551,
          "referenceAllele": "A",
          "start": 2550
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "ENST00000357033.8:c.2344A>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000354923.3:p.Arg782="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS263955"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2527,
          "referenceAllele": "A",
          "start": 2526
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "ENST00000378677.6:c.2332A>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000367948.2:p.Arg778="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS272146"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 93,
          "endIntronDirection": "-",
          "endIntronOffset": 136591,
          "referenceAllele": "A",
          "start": 93,
          "startIntronDirection": "-",
          "startIntronOffset": 136592
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "ENST00000420596.5:c.94-136592A>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000399897.1:n.94-136592A>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS286388"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 93,
          "endIntronDirection": "-",
          "endIntronOffset": 137080,
          "referenceAllele": "A",
          "start": 93,
          "startIntronDirection": "-",
          "startIntronOffset": 137081
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "ENST00000448370.5:c.94-137081A>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000388559.1:n.94-137081A>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS299700"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 335,
          "endIntronDirection": "-",
          "endIntronOffset": 284727,
          "referenceAllele": "A",
          "start": 335,
          "startIntronDirection": "-",
          "startIntronOffset": 284728
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "ENST00000488902.5:n.336-284728A>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS327073"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2332,
          "referenceAllele": "A",
          "start": 2331
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "ENST00000619831.4:c.2332A>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000479270.1:p.Arg778="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS404545"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2344,
          "referenceAllele": "A",
          "start": 2343
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "ENST00000620040.4:c.2344A>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000478150.1:p.Arg782="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS404642"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2664,
          "referenceAllele": "A",
          "start": 2663
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "NM_000109.3:c.2320A>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_000100.2:p.Arg774="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006172"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2588,
          "referenceAllele": "A",
          "start": 2587
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "NM_004006.2:c.2344A>C",
        "LRG_199t1:c.2344A>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_003997.1:p.Arg782="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS029203"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829490144",
      "coordinates": [
        {
          "allele": "C",
          "end": 2595,
          "referenceAllele": "A",
          "start": 2594
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "NM_004009.3:c.2332A>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_004000.1:p.Arg778="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS029204"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829495780",
      "coordinates": [
        {
          "allele": "C",
          "end": 2678,
          "referenceAllele": "A",
          "start": 2677
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "NM_004010.3:c.1975A>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_004001.1:p.Arg659="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS029205"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2541,
          "referenceAllele": "A",
          "start": 2540
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "XM_006724468.2:c.2344A>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_006724531.1:p.Arg782="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS075527"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2423,
          "referenceAllele": "A",
          "start": 2422
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "XM_006724469.2:c.2320A>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_006724532.1:p.Arg774="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS075528"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2541,
          "referenceAllele": "A",
          "start": 2540
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "XM_006724470.2:c.2344A>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_006724533.1:p.Arg782="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS075529"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2541,
          "referenceAllele": "A",
          "start": 2540
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "XM_006724471.2:c.2344A>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_006724534.1:p.Arg782="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS075530"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2412,
          "referenceAllele": "A",
          "start": 2411
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "XM_006724472.2:c.2215A>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_006724535.1:p.Arg739="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS075531"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2541,
          "referenceAllele": "A",
          "start": 2540
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "XM_006724473.2:c.2344A>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_006724536.1:p.Arg782="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS075532"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2541,
          "referenceAllele": "A",
          "start": 2540
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "XM_006724474.2:c.2344A>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_006724537.1:p.Arg782="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS075533"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2541,
          "referenceAllele": "A",
          "start": 2540
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "XM_006724475.2:c.2344A>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_006724538.1:p.Arg782="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS075534"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2541,
          "referenceAllele": "A",
          "start": 2540
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "XM_011545467.1:c.2344A>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011543769.1:p.Arg782="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS112367"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2541,
          "referenceAllele": "A",
          "start": 2540
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "XM_011545468.1:c.2344A>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011543770.1:p.Arg782="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS112368"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2541,
          "referenceAllele": "A",
          "start": 2540
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "XM_011545469.1:c.2344A>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011543771.1:p.Arg782="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS112369"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2515,
          "referenceAllele": "A",
          "start": 2514
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "XM_006724469.3:c.2320A>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_006724532.1:p.Arg774="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS540982"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2541,
          "referenceAllele": "A",
          "start": 2540
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "XM_006724470.3:c.2344A>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_006724533.1:p.Arg782="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS540983"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2541,
          "referenceAllele": "A",
          "start": 2540
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "XM_006724474.3:c.2344A>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_006724537.1:p.Arg782="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS540984"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2541,
          "referenceAllele": "A",
          "start": 2540
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "XM_011545468.2:c.2344A>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011543770.1:p.Arg782="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS556096"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2541,
          "referenceAllele": "A",
          "start": 2540
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "XM_017029328.1:c.2344A>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_016884817.1:p.Arg782="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS578892"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2541,
          "referenceAllele": "A",
          "start": 2540
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "XM_017029329.1:c.2344A>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_016884818.1:p.Arg782="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS578893"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2541,
          "referenceAllele": "A",
          "start": 2540
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "XM_017029330.2:c.2344A>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_016884819.1:p.Arg782="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS578894"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825071725",
      "coordinates": [
        {
          "allele": "C",
          "end": 2443,
          "referenceAllele": "A",
          "start": 2442
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "NM_000109.4:c.2320A>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_000100.3:p.Arg774="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS674704"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829483135",
      "coordinates": [
        {
          "allele": "C",
          "end": 2581,
          "referenceAllele": "A",
          "start": 2580
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "NM_004006.3:c.2344A>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_003997.2:p.Arg782="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS696014",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000357033.9:c.2344A>C"
          },
          "RefSeq": {
            "hgvs": "NM_004006.3:c.2344A>C"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000354923.3:p.Arg782="
          },
          "RefSeq": {
            "hgvs": "NP_003997.2:p.Arg782="
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}