{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA10605546",
  "communityStandardTitle": [
    "NM_004006.3(DMD):c.4845+8C>T"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=270956[alleleid]",
        "alleleId": 270956,
        "preferredName": "NM_004006.3(DMD):c.4845+8C>T"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/286719",
        "RCV": [
          "RCV000283500",
          "RCV001491179"
        ],
        "variationId": 286719
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chrX:g.32398619G>A?assembly=hg19",
        "id": "chrX:g.32398619G>A"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chrX:g.32380502G>A?assembly=hg38",
        "id": "chrX:g.32380502G>A"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/886043459",
        "rs": 886043459
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/X-32380502-G-A?dataset=gnomad_r4",
        "id": "X-32380502-G-A",
        "variant": "X:32380502 G / A"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "X",
      "coordinates": [
        {
          "allele": "A",
          "end": 32380502,
          "referenceAllele": "G",
          "start": 32380501
        }
      ],
      "hgvs": [
        "NC_000023.11:g.32380502G>A",
        "CM000685.2:g.32380502G>A"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000071"
    },
    {
      "chromosome": "X",
      "coordinates": [
        {
          "allele": "A",
          "end": 32398619,
          "referenceAllele": "G",
          "start": 32398618
        }
      ],
      "hgvs": [
        "NC_000023.10:g.32398619G>A",
        "CM000685.1:g.32398619G>A"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000047"
    },
    {
      "chromosome": "X",
      "coordinates": [
        {
          "allele": "A",
          "end": 32308540,
          "referenceAllele": "G",
          "start": 32308539
        }
      ],
      "hgvs": [
        "NC_000023.9:g.32308540G>A"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000023"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 964108,
          "referenceAllele": "C",
          "start": 964107
        }
      ],
      "hgvs": [
        "NG_012232.1:g.964108C>T",
        "LRG_199:g.964108C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS002304"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 5082,
          "endIntronDirection": "+",
          "endIntronOffset": 8,
          "referenceAllele": "C",
          "start": 5082,
          "startIntronDirection": "+",
          "startIntronOffset": 7
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "ENST00000357033.9:c.4845+8C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000354923.3:n.4845+8C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS748881",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000357033.9:c.4845+8C>T"
          },
          "RefSeq": {
            "hgvs": "NM_004006.3:c.4845+8C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000354923.3:n.4845+8C>T"
          },
          "RefSeq": {
            "hgvs": "NP_003997.2:n.4845+8C>T"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 993,
          "endIntronDirection": "+",
          "endIntronOffset": 8,
          "referenceAllele": "C",
          "start": 993,
          "startIntronDirection": "+",
          "startIntronOffset": 7
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "ENST00000619831.5:c.813+8C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000479270.2:n.813+8C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS762247"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 5052,
          "endIntronDirection": "+",
          "endIntronOffset": 8,
          "referenceAllele": "C",
          "start": 5052,
          "startIntronDirection": "+",
          "startIntronOffset": 7
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "ENST00000357033.8:c.4845+8C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000354923.3:n.4845+8C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS263955"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 5028,
          "endIntronDirection": "+",
          "endIntronOffset": 8,
          "referenceAllele": "C",
          "start": 5028,
          "startIntronDirection": "+",
          "startIntronOffset": 7
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "ENST00000378677.6:c.4833+8C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000367948.2:n.4833+8C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS272146"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 93,
          "endIntronDirection": "-",
          "endIntronOffset": 15302,
          "referenceAllele": "C",
          "start": 93,
          "startIntronDirection": "-",
          "startIntronOffset": 15303
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "ENST00000420596.5:c.94-15303C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000399897.1:n.94-15303C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS286388"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 93,
          "endIntronDirection": "-",
          "endIntronOffset": 15791,
          "referenceAllele": "C",
          "start": 93,
          "startIntronDirection": "-",
          "startIntronOffset": 15792
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "ENST00000448370.5:c.94-15792C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000388559.1:n.94-15792C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS299700"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 335,
          "endIntronDirection": "-",
          "endIntronOffset": 163438,
          "referenceAllele": "C",
          "start": 335,
          "startIntronDirection": "-",
          "startIntronOffset": 163439
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "ENST00000488902.5:n.336-163439C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS327073"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 4833,
          "endIntronDirection": "+",
          "endIntronOffset": 8,
          "referenceAllele": "C",
          "start": 4833,
          "startIntronDirection": "+",
          "startIntronOffset": 7
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "ENST00000619831.4:c.4833+8C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000479270.1:n.4833+8C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS404545"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 4845,
          "endIntronDirection": "+",
          "endIntronOffset": 8,
          "referenceAllele": "C",
          "start": 4845,
          "startIntronDirection": "+",
          "startIntronOffset": 7
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "ENST00000620040.4:c.4845+8C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000478150.1:n.4845+8C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS404642"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 5165,
          "endIntronDirection": "+",
          "endIntronOffset": 8,
          "referenceAllele": "C",
          "start": 5165,
          "startIntronDirection": "+",
          "startIntronOffset": 7
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "NM_000109.3:c.4821+8C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_000100.2:n.4821+8C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006172"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 5089,
          "endIntronDirection": "+",
          "endIntronOffset": 8,
          "referenceAllele": "C",
          "start": 5089,
          "startIntronDirection": "+",
          "startIntronOffset": 7
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "NM_004006.2:c.4845+8C>T",
        "LRG_199t1:c.4845+8C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_003997.1:n.4845+8C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS029203"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 5096,
          "endIntronDirection": "+",
          "endIntronOffset": 8,
          "referenceAllele": "C",
          "start": 5096,
          "startIntronDirection": "+",
          "startIntronOffset": 7
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "NM_004009.3:c.4833+8C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_004000.1:n.4833+8C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS029204"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 5179,
          "endIntronDirection": "+",
          "endIntronOffset": 8,
          "referenceAllele": "C",
          "start": 5179,
          "startIntronDirection": "+",
          "startIntronOffset": 7
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "NM_004010.3:c.4476+8C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_004001.1:n.4476+8C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS029205"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 867,
          "endIntronDirection": "+",
          "endIntronOffset": 8,
          "referenceAllele": "C",
          "start": 867,
          "startIntronDirection": "+",
          "startIntronOffset": 7
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "NM_004011.3:c.822+8C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_004002.2:n.822+8C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS029206"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1010,
          "endIntronDirection": "+",
          "endIntronOffset": 8,
          "referenceAllele": "C",
          "start": 1010,
          "startIntronDirection": "+",
          "startIntronOffset": 7
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "NM_004012.3:c.813+8C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_004003.1:n.813+8C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS029207"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 5042,
          "endIntronDirection": "+",
          "endIntronOffset": 8,
          "referenceAllele": "C",
          "start": 5042,
          "startIntronDirection": "+",
          "startIntronOffset": 7
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "XM_006724468.2:c.4845+8C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_006724531.1:n.4845+8C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS075527"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 4924,
          "endIntronDirection": "+",
          "endIntronOffset": 8,
          "referenceAllele": "C",
          "start": 4924,
          "startIntronDirection": "+",
          "startIntronOffset": 7
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "XM_006724469.2:c.4821+8C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_006724532.1:n.4821+8C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS075528"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 5042,
          "endIntronDirection": "+",
          "endIntronOffset": 8,
          "referenceAllele": "C",
          "start": 5042,
          "startIntronDirection": "+",
          "startIntronOffset": 7
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "XM_006724470.2:c.4845+8C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_006724533.1:n.4845+8C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS075529"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 5042,
          "endIntronDirection": "+",
          "endIntronOffset": 8,
          "referenceAllele": "C",
          "start": 5042,
          "startIntronDirection": "+",
          "startIntronOffset": 7
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "XM_006724471.2:c.4845+8C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_006724534.1:n.4845+8C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS075530"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 4913,
          "endIntronDirection": "+",
          "endIntronOffset": 8,
          "referenceAllele": "C",
          "start": 4913,
          "startIntronDirection": "+",
          "startIntronOffset": 7
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "XM_006724472.2:c.4716+8C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_006724535.1:n.4716+8C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS075531"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 5042,
          "endIntronDirection": "+",
          "endIntronOffset": 8,
          "referenceAllele": "C",
          "start": 5042,
          "startIntronDirection": "+",
          "startIntronOffset": 7
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "XM_006724473.2:c.4845+8C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_006724536.1:n.4845+8C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS075532"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 5042,
          "endIntronDirection": "+",
          "endIntronOffset": 8,
          "referenceAllele": "C",
          "start": 5042,
          "startIntronDirection": "+",
          "startIntronOffset": 7
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "XM_006724474.2:c.4845+8C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_006724537.1:n.4845+8C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS075533"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 5042,
          "endIntronDirection": "+",
          "endIntronOffset": 8,
          "referenceAllele": "C",
          "start": 5042,
          "startIntronDirection": "+",
          "startIntronOffset": 7
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "XM_006724475.2:c.4845+8C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_006724538.1:n.4845+8C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS075534"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 5042,
          "endIntronDirection": "+",
          "endIntronOffset": 8,
          "referenceAllele": "C",
          "start": 5042,
          "startIntronDirection": "+",
          "startIntronOffset": 7
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "XM_011545467.1:c.4845+8C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011543769.1:n.4845+8C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS112367"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 5042,
          "endIntronDirection": "+",
          "endIntronOffset": 8,
          "referenceAllele": "C",
          "start": 5042,
          "startIntronDirection": "+",
          "startIntronOffset": 7
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "XM_011545468.1:c.4845+8C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011543770.1:n.4845+8C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS112368"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 5042,
          "endIntronDirection": "+",
          "endIntronOffset": 8,
          "referenceAllele": "C",
          "start": 5042,
          "startIntronDirection": "+",
          "startIntronOffset": 7
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "XM_011545469.1:c.4845+8C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011543771.1:n.4845+8C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS112369"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 5016,
          "endIntronDirection": "+",
          "endIntronOffset": 8,
          "referenceAllele": "C",
          "start": 5016,
          "startIntronDirection": "+",
          "startIntronOffset": 7
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "XM_006724469.3:c.4821+8C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_006724532.1:n.4821+8C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS540982"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 5042,
          "endIntronDirection": "+",
          "endIntronOffset": 8,
          "referenceAllele": "C",
          "start": 5042,
          "startIntronDirection": "+",
          "startIntronOffset": 7
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "XM_006724470.3:c.4845+8C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_006724533.1:n.4845+8C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS540983"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 5042,
          "endIntronDirection": "+",
          "endIntronOffset": 8,
          "referenceAllele": "C",
          "start": 5042,
          "startIntronDirection": "+",
          "startIntronOffset": 7
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "XM_006724474.3:c.4845+8C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_006724537.1:n.4845+8C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS540984"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 5042,
          "endIntronDirection": "+",
          "endIntronOffset": 8,
          "referenceAllele": "C",
          "start": 5042,
          "startIntronDirection": "+",
          "startIntronOffset": 7
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "XM_011545468.2:c.4845+8C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011543770.1:n.4845+8C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS556096"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 5042,
          "endIntronDirection": "+",
          "endIntronOffset": 8,
          "referenceAllele": "C",
          "start": 5042,
          "startIntronDirection": "+",
          "startIntronOffset": 7
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "XM_017029328.1:c.4845+8C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_016884817.1:n.4845+8C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS578892"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 5042,
          "endIntronDirection": "+",
          "endIntronOffset": 8,
          "referenceAllele": "C",
          "start": 5042,
          "startIntronDirection": "+",
          "startIntronOffset": 7
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "XM_017029329.1:c.4845+8C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_016884818.1:n.4845+8C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS578893"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 5042,
          "endIntronDirection": "+",
          "endIntronOffset": 8,
          "referenceAllele": "C",
          "start": 5042,
          "startIntronDirection": "+",
          "startIntronOffset": 7
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "XM_017029330.2:c.4845+8C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_016884819.1:n.4845+8C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS578894"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 4944,
          "endIntronDirection": "+",
          "endIntronOffset": 8,
          "referenceAllele": "C",
          "start": 4944,
          "startIntronDirection": "+",
          "startIntronOffset": 7
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "NM_000109.4:c.4821+8C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_000100.3:n.4821+8C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS674704"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 5082,
          "endIntronDirection": "+",
          "endIntronOffset": 8,
          "referenceAllele": "C",
          "start": 5082,
          "startIntronDirection": "+",
          "startIntronOffset": 7
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "NM_004006.3:c.4845+8C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_003997.2:n.4845+8C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS696014",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000357033.9:c.4845+8C>T"
          },
          "RefSeq": {
            "hgvs": "NM_004006.3:c.4845+8C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000354923.3:n.4845+8C>T"
          },
          "RefSeq": {
            "hgvs": "NP_003997.2:n.4845+8C>T"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 841,
          "endIntronDirection": "+",
          "endIntronOffset": 8,
          "referenceAllele": "C",
          "start": 841,
          "startIntronDirection": "+",
          "startIntronOffset": 7
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "NM_004011.4:c.822+8C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_004002.3:n.822+8C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS696015"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 984,
          "endIntronDirection": "+",
          "endIntronOffset": 8,
          "referenceAllele": "C",
          "start": 984,
          "startIntronDirection": "+",
          "startIntronOffset": 7
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "NM_004012.4:c.813+8C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_004003.2:n.813+8C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS696016"
    }
  ],
  "type": "nucleotide"
}