{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA273085",
  "communityStandardTitle": [
    "NM_004006.3(DMD):c.6373C>T (p.Gln2125Ter)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=26300[alleleid]",
        "alleleId": 26300,
        "preferredName": "NM_004006.3(DMD):c.6373C>T (p.Gln2125Ter)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/11261",
        "RCV": [
          "RCV000012012",
          "RCV000150064"
        ],
        "variationId": 11261
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chrX:g.32235098G>A?assembly=hg19",
        "id": "chrX:g.32235098G>A"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chrX:g.32216981G>A?assembly=hg38",
        "id": "chrX:g.32216981G>A"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/128626251",
        "rs": 128626251
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "X",
      "coordinates": [
        {
          "allele": "A",
          "end": 32216981,
          "referenceAllele": "G",
          "start": 32216980
        }
      ],
      "hgvs": [
        "NC_000023.11:g.32216981G>A",
        "CM000685.2:g.32216981G>A"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000071"
    },
    {
      "chromosome": "X",
      "coordinates": [
        {
          "allele": "A",
          "end": 32235098,
          "referenceAllele": "G",
          "start": 32235097
        }
      ],
      "hgvs": [
        "NC_000023.10:g.32235098G>A",
        "CM000685.1:g.32235098G>A"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000047"
    },
    {
      "chromosome": "X",
      "coordinates": [
        {
          "allele": "A",
          "end": 32145019,
          "referenceAllele": "G",
          "start": 32145018
        }
      ],
      "hgvs": [
        "NC_000023.9:g.32145019G>A"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000023"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1127629,
          "referenceAllele": "C",
          "start": 1127628
        }
      ],
      "hgvs": [
        "NG_012232.1:g.1127629C>T",
        "LRG_199:g.1127629C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS002304"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1219,
          "referenceAllele": "C",
          "start": 1218
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "ENST00000358062.7:c.1219C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000350765.3:p.Gln407Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS904459"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 6610,
          "referenceAllele": "C",
          "start": 6609
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "ENST00000357033.9:c.6373C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000354923.3:p.Gln2125Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS748881",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000357033.9:c.6373C>T"
          },
          "RefSeq": {
            "hgvs": "NM_004006.3:c.6373C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000354923.3:p.Gln2125Ter"
          },
          "RefSeq": {
            "hgvs": "NP_003997.2:p.Gln2125Ter"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2521,
          "referenceAllele": "C",
          "start": 2520
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "ENST00000619831.5:c.2341C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000479270.2:p.Gln781Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS762247"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 6580,
          "referenceAllele": "C",
          "start": 6579
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "ENST00000357033.8:c.6373C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000354923.3:p.Gln2125Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS263955"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 6556,
          "referenceAllele": "C",
          "start": 6555
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "ENST00000378677.6:c.6361C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000367948.2:p.Gln2121Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS272146"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 418,
          "referenceAllele": "C",
          "start": 417
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "ENST00000488902.5:n.418C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS327073"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 6361,
          "referenceAllele": "C",
          "start": 6360
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "ENST00000619831.4:c.6361C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000479270.1:p.Gln2121Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS404545"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 6373,
          "referenceAllele": "C",
          "start": 6372
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "ENST00000620040.4:c.6373C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000478150.1:p.Gln2125Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS404642"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 6693,
          "referenceAllele": "C",
          "start": 6692
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "NM_000109.3:c.6349C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_000100.2:p.Gln2117Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006172"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 6617,
          "referenceAllele": "C",
          "start": 6616
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "NM_004006.2:c.6373C>T",
        "LRG_199t1:c.6373C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_003997.1:p.Gln2125Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS029203"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 6624,
          "referenceAllele": "C",
          "start": 6623
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "NM_004009.3:c.6361C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_004000.1:p.Gln2121Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS029204"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 6707,
          "referenceAllele": "C",
          "start": 6706
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "NM_004010.3:c.6004C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_004001.1:p.Gln2002Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS029205"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2395,
          "referenceAllele": "C",
          "start": 2394
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "NM_004011.3:c.2350C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_004002.2:p.Gln784Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS029206"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2538,
          "referenceAllele": "C",
          "start": 2537
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "NM_004012.3:c.2341C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_004003.1:p.Gln781Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS029207"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 6570,
          "referenceAllele": "C",
          "start": 6569
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "XM_006724468.2:c.6373C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_006724531.1:p.Gln2125Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS075527"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 6452,
          "referenceAllele": "C",
          "start": 6451
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "XM_006724469.2:c.6349C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_006724532.1:p.Gln2117Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS075528"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 6570,
          "referenceAllele": "C",
          "start": 6569
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "XM_006724470.2:c.6373C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_006724533.1:p.Gln2125Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS075529"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 6570,
          "referenceAllele": "C",
          "start": 6569
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "XM_006724471.2:c.6373C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_006724534.1:p.Gln2125Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS075530"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 6441,
          "referenceAllele": "C",
          "start": 6440
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "XM_006724472.2:c.6244C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_006724535.1:p.Gln2082Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS075531"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 6432,
          "referenceAllele": "C",
          "start": 6431
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "XM_006724473.2:c.6235C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_006724536.1:p.Gln2079Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS075532"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 6570,
          "referenceAllele": "C",
          "start": 6569
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "XM_006724474.2:c.6373C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_006724537.1:p.Gln2125Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS075533"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 6570,
          "referenceAllele": "C",
          "start": 6569
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "XM_006724475.2:c.6373C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_006724538.1:p.Gln2125Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS075534"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 6447,
          "referenceAllele": "C",
          "start": 6446
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "XM_011545467.1:c.6250C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011543769.1:p.Gln2084Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS112367"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 6570,
          "referenceAllele": "C",
          "start": 6569
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "XM_011545468.1:c.6373C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011543770.1:p.Gln2125Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS112368"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 6544,
          "referenceAllele": "C",
          "start": 6543
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "XM_006724469.3:c.6349C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_006724532.1:p.Gln2117Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS540982"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 6570,
          "referenceAllele": "C",
          "start": 6569
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "XM_006724470.3:c.6373C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_006724533.1:p.Gln2125Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS540983"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 6570,
          "referenceAllele": "C",
          "start": 6569
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "XM_006724474.3:c.6373C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_006724537.1:p.Gln2125Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS540984"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 6570,
          "referenceAllele": "C",
          "start": 6569
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "XM_011545468.2:c.6373C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011543770.1:p.Gln2125Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS556096"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 6570,
          "referenceAllele": "C",
          "start": 6569
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "XM_017029328.1:c.6373C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_016884817.1:p.Gln2125Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS578892"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 6570,
          "referenceAllele": "C",
          "start": 6569
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "XM_017029329.1:c.6373C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_016884818.1:p.Gln2125Ter",
        "hgvsWellDefined": "XP_016884818.1:p.Gln2125_Lys2166delinsPheLeuArgLysThrGlnIleProGluAsnTrpGluHisAlaLysTyrLysTrpTyrLeuLysIleSerGluArgGlnLysLysGlyAsnCysAlaThrLeuLeuSerPheTrpIleSerLysTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS578893"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 6570,
          "referenceAllele": "C",
          "start": 6569
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "XM_017029330.2:c.6373C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_016884819.1:p.Gln2125Ter",
        "hgvsWellDefined": "XP_016884819.1:p.Gln2125_Ile2160delinsPheLeuArgLysThrGlnIleProGluAsnTrpGluHisAlaLysTyrLysTrpTyrLeuLysArgThrGlyAspArgGlyLeuIleLeuLeuAspAspValIleTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS578894"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1146,
          "referenceAllele": "C",
          "start": 1145
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "XM_017029331.1:c.547C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_016884820.1:p.Gln183Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS578895"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 6472,
          "referenceAllele": "C",
          "start": 6471
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "NM_000109.4:c.6349C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_000100.3:p.Gln2117Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS674704"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 6610,
          "referenceAllele": "C",
          "start": 6609
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "NM_004006.3:c.6373C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_003997.2:p.Gln2125Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS696014",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000357033.9:c.6373C>T"
          },
          "RefSeq": {
            "hgvs": "NM_004006.3:c.6373C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000354923.3:p.Gln2125Ter"
          },
          "RefSeq": {
            "hgvs": "NP_003997.2:p.Gln2125Ter"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2369,
          "referenceAllele": "C",
          "start": 2368
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "NM_004011.4:c.2350C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_004002.3:p.Gln784Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS696015"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2512,
          "referenceAllele": "C",
          "start": 2511
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "NM_004012.4:c.2341C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_004003.2:p.Gln781Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS696016"
    }
  ],
  "type": "nucleotide"
}