{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA412672508",
  "communityStandardTitle": [
    "NM_004006.3(DMD):c.2485C>T (p.Gln829Ter)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=433328[alleleid]",
        "alleleId": 433328,
        "preferredName": "NM_004006.3(DMD):c.2485C>T (p.Gln829Ter)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/439617",
        "RCV": [
          "RCV000507981",
          "RCV001240972",
          "RCV001783008",
          "RCV003470640"
        ],
        "variationId": 439617
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chrX:g.32509531G>A?assembly=hg19",
        "id": "chrX:g.32509531G>A"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chrX:g.32491414G>A?assembly=hg38",
        "id": "chrX:g.32491414G>A"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/753662330",
        "rs": 753662330
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "X",
      "coordinates": [
        {
          "allele": "A",
          "end": 32491414,
          "referenceAllele": "G",
          "start": 32491413
        }
      ],
      "hgvs": [
        "NC_000023.11:g.32491414G>A",
        "CM000685.2:g.32491414G>A"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000071"
    },
    {
      "chromosome": "X",
      "coordinates": [
        {
          "allele": "A",
          "end": 32509531,
          "referenceAllele": "G",
          "start": 32509530
        }
      ],
      "hgvs": [
        "NC_000023.10:g.32509531G>A",
        "CM000685.1:g.32509531G>A"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000047"
    },
    {
      "chromosome": "X",
      "coordinates": [
        {
          "allele": "A",
          "end": 32419452,
          "referenceAllele": "G",
          "start": 32419451
        }
      ],
      "hgvs": [
        "NC_000023.9:g.32419452G>A"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000023"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 853196,
          "referenceAllele": "C",
          "start": 853195
        }
      ],
      "hgvs": [
        "NG_012232.1:g.853196C>T",
        "LRG_199:g.853196C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS002304"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2692,
          "referenceAllele": "C",
          "start": 2691
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "ENST00000682899.1:n.2692C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS827887"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2692,
          "referenceAllele": "C",
          "start": 2691
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "ENST00000683985.1:n.2692C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS828948"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2722,
          "referenceAllele": "C",
          "start": 2721
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "ENST00000357033.9:c.2485C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000354923.3:p.Gln829Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS748881",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000357033.9:c.2485C>T"
          },
          "RefSeq": {
            "hgvs": "NM_004006.3:c.2485C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000354923.3:p.Gln829Ter"
          },
          "RefSeq": {
            "hgvs": "NP_003997.2:p.Gln829Ter"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2692,
          "referenceAllele": "C",
          "start": 2691
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "ENST00000357033.8:c.2485C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000354923.3:p.Gln829Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS263955"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2668,
          "referenceAllele": "C",
          "start": 2667
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "ENST00000378677.6:c.2473C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000367948.2:p.Gln825Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS272146"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 93,
          "endIntronDirection": "-",
          "endIntronOffset": 126214,
          "referenceAllele": "C",
          "start": 93,
          "startIntronDirection": "-",
          "startIntronOffset": 126215
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "ENST00000420596.5:c.94-126215C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000399897.1:n.94-126215C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS286388"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 93,
          "endIntronDirection": "-",
          "endIntronOffset": 126703,
          "referenceAllele": "C",
          "start": 93,
          "startIntronDirection": "-",
          "startIntronOffset": 126704
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "ENST00000448370.5:c.94-126704C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000388559.1:n.94-126704C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS299700"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 335,
          "endIntronDirection": "-",
          "endIntronOffset": 274350,
          "referenceAllele": "C",
          "start": 335,
          "startIntronDirection": "-",
          "startIntronOffset": 274351
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "ENST00000488902.5:n.336-274351C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS327073"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2473,
          "referenceAllele": "C",
          "start": 2472
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "ENST00000619831.4:c.2473C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000479270.1:p.Gln825Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS404545"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2485,
          "referenceAllele": "C",
          "start": 2484
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "ENST00000620040.4:c.2485C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000478150.1:p.Gln829Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS404642"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2805,
          "referenceAllele": "C",
          "start": 2804
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "NM_000109.3:c.2461C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_000100.2:p.Gln821Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006172"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2729,
          "referenceAllele": "C",
          "start": 2728
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "NM_004006.2:c.2485C>T",
        "LRG_199t1:c.2485C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_003997.1:p.Gln829Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS029203"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2736,
          "referenceAllele": "C",
          "start": 2735
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "NM_004009.3:c.2473C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_004000.1:p.Gln825Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS029204"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2819,
          "referenceAllele": "C",
          "start": 2818
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "NM_004010.3:c.2116C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_004001.1:p.Gln706Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS029205"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2682,
          "referenceAllele": "C",
          "start": 2681
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "XM_006724468.2:c.2485C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_006724531.1:p.Gln829Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS075527"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2564,
          "referenceAllele": "C",
          "start": 2563
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "XM_006724469.2:c.2461C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_006724532.1:p.Gln821Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS075528"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2682,
          "referenceAllele": "C",
          "start": 2681
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "XM_006724470.2:c.2485C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_006724533.1:p.Gln829Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS075529"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2682,
          "referenceAllele": "C",
          "start": 2681
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "XM_006724471.2:c.2485C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_006724534.1:p.Gln829Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS075530"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2553,
          "referenceAllele": "C",
          "start": 2552
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "XM_006724472.2:c.2356C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_006724535.1:p.Gln786Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS075531"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2682,
          "referenceAllele": "C",
          "start": 2681
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "XM_006724473.2:c.2485C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_006724536.1:p.Gln829Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS075532"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2682,
          "referenceAllele": "C",
          "start": 2681
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "XM_006724474.2:c.2485C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_006724537.1:p.Gln829Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS075533"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2682,
          "referenceAllele": "C",
          "start": 2681
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "XM_006724475.2:c.2485C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_006724538.1:p.Gln829Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS075534"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2682,
          "referenceAllele": "C",
          "start": 2681
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "XM_011545467.1:c.2485C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011543769.1:p.Gln829Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS112367"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2682,
          "referenceAllele": "C",
          "start": 2681
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "XM_011545468.1:c.2485C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011543770.1:p.Gln829Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS112368"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2682,
          "referenceAllele": "C",
          "start": 2681
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "XM_011545469.1:c.2485C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011543771.1:p.Gln829Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS112369"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2656,
          "referenceAllele": "C",
          "start": 2655
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "XM_006724469.3:c.2461C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_006724532.1:p.Gln821Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS540982"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2682,
          "referenceAllele": "C",
          "start": 2681
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "XM_006724470.3:c.2485C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_006724533.1:p.Gln829Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS540983"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2682,
          "referenceAllele": "C",
          "start": 2681
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "XM_006724474.3:c.2485C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_006724537.1:p.Gln829Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS540984"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2682,
          "referenceAllele": "C",
          "start": 2681
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "XM_011545468.2:c.2485C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011543770.1:p.Gln829Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS556096"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2682,
          "referenceAllele": "C",
          "start": 2681
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "XM_017029328.1:c.2485C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_016884817.1:p.Gln829Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS578892"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2682,
          "referenceAllele": "C",
          "start": 2681
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "XM_017029329.1:c.2485C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_016884818.1:p.Gln829Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS578893"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2682,
          "referenceAllele": "C",
          "start": 2681
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "XM_017029330.2:c.2485C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_016884819.1:p.Gln829Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS578894"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2584,
          "referenceAllele": "C",
          "start": 2583
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "NM_000109.4:c.2461C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_000100.3:p.Gln821Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS674704"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2722,
          "referenceAllele": "C",
          "start": 2721
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "NM_004006.3:c.2485C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_003997.2:p.Gln829Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS696014",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000357033.9:c.2485C>T"
          },
          "RefSeq": {
            "hgvs": "NM_004006.3:c.2485C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000354923.3:p.Gln829Ter"
          },
          "RefSeq": {
            "hgvs": "NP_003997.2:p.Gln829Ter"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}