{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA1401178636",
  "communityStandardTitle": [
    "NM_001276270.2(MBD4):c.1036G= (p.Glu346=)"
  ],
  "externalRecords": {
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/140693",
        "rs": 140693
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "3",
      "coordinates": [
        {
          "allele": "C",
          "end": 129436608,
          "referenceAllele": "C",
          "start": 129436607
        }
      ],
      "hgvs": [
        "NC_000003.12:g.129436608C=",
        "CM000665.2:g.129436608C="
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000051"
    },
    {
      "chromosome": "3",
      "coordinates": [
        {
          "allele": "C",
          "end": 129155451,
          "referenceAllele": "C",
          "start": 129155450
        }
      ],
      "hgvs": [
        "NC_000003.11:g.129155451C=",
        "CM000665.1:g.129155451C="
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000027"
    },
    {
      "chromosome": "3",
      "coordinates": [
        {
          "allele": "C",
          "end": 130638141,
          "referenceAllele": "C",
          "start": 130638140
        }
      ],
      "hgvs": [
        "NC_000003.10:g.130638141C="
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000003"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1484,
          "referenceAllele": "C",
          "start": 1483
        }
      ],
      "hgvs": [
        "NG_023392.1:g.1484C="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS003839"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 8572,
          "referenceAllele": "G",
          "start": 8571
        }
      ],
      "hgvs": [
        "NG_033106.1:g.8572G="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS005433"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 288,
          "endIntronDirection": "+",
          "endIntronOffset": 3376,
          "referenceAllele": "C",
          "start": 288,
          "startIntronDirection": "+",
          "startIntronOffset": 3375
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013556",
      "geneNCBI_id": 55764,
      "geneSymbol": "IFT122",
      "hgvs": [
        "ENST00000687461.1:n.288+3376C="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS831099"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 355,
          "endIntronDirection": "+",
          "endIntronOffset": 3376,
          "referenceAllele": "C",
          "start": 355,
          "startIntronDirection": "+",
          "startIntronOffset": 3375
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013556",
      "geneNCBI_id": 55764,
      "geneSymbol": "IFT122",
      "hgvs": [
        "ENST00000693654.1:n.355+3376C="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS834356"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1151,
          "referenceAllele": "G",
          "start": 1150
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006919",
      "geneNCBI_id": 8930,
      "geneSymbol": "MBD4",
      "hgvs": [
        "ENST00000429544.7:c.1036G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000394080.2:p.Glu346="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS755274",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000429544.7:c.1036G="
          },
          "RefSeq": {
            "hgvs": "NM_001276270.2:c.1036G="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000394080.2:p.Glu346="
          },
          "RefSeq": {
            "hgvs": "NP_001263199.1:p.Glu346="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1212,
          "referenceAllele": "G",
          "start": 1211
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006919",
      "geneNCBI_id": 8930,
      "geneSymbol": "MBD4",
      "hgvs": [
        "ENST00000249910.5:c.1036G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000249910.1:p.Glu346="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS249642"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 593,
          "endIntronDirection": "+",
          "endIntronOffset": 1200,
          "referenceAllele": "G",
          "start": 593,
          "startIntronDirection": "+",
          "startIntronOffset": 1199
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006919",
      "geneNCBI_id": 8930,
      "geneSymbol": "MBD4",
      "hgvs": [
        "ENST00000393278.6:c.247+1200G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000376959.2:n.247+1200G="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS275535"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1232,
          "referenceAllele": "G",
          "start": 1231
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006919",
      "geneNCBI_id": 8930,
      "geneSymbol": "MBD4",
      "hgvs": [
        "ENST00000429544.6:c.1036G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000394080.2:p.Glu346="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS290714"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1210,
          "referenceAllele": "G",
          "start": 1209
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006919",
      "geneNCBI_id": 8930,
      "geneSymbol": "MBD4",
      "hgvs": [
        "ENST00000503197.5:c.1036G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000424873.1:p.Glu346="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS335572"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1238,
          "referenceAllele": "G",
          "start": 1237
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006919",
      "geneNCBI_id": 8930,
      "geneSymbol": "MBD4",
      "hgvs": [
        "ENST00000507208.1:c.1036G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000422327.1:p.Glu346="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS338554"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 442,
          "endIntronDirection": "+",
          "endIntronOffset": 1112,
          "referenceAllele": "G",
          "start": 442,
          "startIntronDirection": "+",
          "startIntronOffset": 1111
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006919",
      "geneNCBI_id": 8930,
      "geneSymbol": "MBD4",
      "hgvs": [
        "ENST00000509587.1:n.442+1112G="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS340317"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 198,
          "endIntronDirection": "+",
          "endIntronOffset": 3122,
          "referenceAllele": "G",
          "start": 198,
          "startIntronDirection": "+",
          "startIntronOffset": 3121
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006919",
      "geneNCBI_id": 8930,
      "geneSymbol": "MBD4",
      "hgvs": [
        "ENST00000509828.1:c.104+3122G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000422690.1:n.104+3122G="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS340505"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826551791",
      "coordinates": [
        {
          "allele": "G",
          "end": 1382,
          "referenceAllele": "G",
          "start": 1381
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006919",
      "geneNCBI_id": 8930,
      "geneSymbol": "MBD4",
      "hgvs": [
        "NM_001276270.1:c.1036G="
      ],
      "proteinEffect": {
        "hgvs": "NP_001263199.1:p.Glu346="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS020846"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826552078",
      "coordinates": [
        {
          "allele": "G",
          "end": 1382,
          "referenceAllele": "G",
          "start": 1381
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006919",
      "geneNCBI_id": 8930,
      "geneSymbol": "MBD4",
      "hgvs": [
        "NM_001276271.1:c.1036G="
      ],
      "proteinEffect": {
        "hgvs": "NP_001263200.1:p.Glu346="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS020847"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826552358",
      "coordinates": [
        {
          "allele": "G",
          "end": 1382,
          "referenceAllele": "G",
          "start": 1381
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006919",
      "geneNCBI_id": 8930,
      "geneSymbol": "MBD4",
      "hgvs": [
        "NM_001276272.1:c.1036G="
      ],
      "proteinEffect": {
        "hgvs": "NP_001263201.1:p.Glu346="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS020848"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 593,
          "endIntronDirection": "+",
          "endIntronOffset": 1200,
          "referenceAllele": "G",
          "start": 593,
          "startIntronDirection": "+",
          "startIntronOffset": 1199
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006919",
      "geneNCBI_id": 8930,
      "geneSymbol": "MBD4",
      "hgvs": [
        "NM_001276273.1:c.247+1200G="
      ],
      "proteinEffect": {
        "hgvs": "NP_001263202.1:n.247+1200G="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS020849"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829456704",
      "coordinates": [
        {
          "allele": "G",
          "end": 1382,
          "referenceAllele": "G",
          "start": 1381
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006919",
      "geneNCBI_id": 8930,
      "geneSymbol": "MBD4",
      "hgvs": [
        "NM_003925.2:c.1036G="
      ],
      "proteinEffect": {
        "hgvs": "NP_003916.1:p.Glu346="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS029135"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1235,
          "referenceAllele": "G",
          "start": 1234
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006919",
      "geneNCBI_id": 8930,
      "geneSymbol": "MBD4",
      "hgvs": [
        "XM_011513267.1:c.1036G="
      ],
      "proteinEffect": {
        "hgvs": "XP_011511569.1:p.Glu346="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS080519"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 442,
          "endIntronDirection": "+",
          "endIntronOffset": 1112,
          "referenceAllele": "G",
          "start": 442,
          "startIntronDirection": "+",
          "startIntronOffset": 1111
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006919",
      "geneNCBI_id": 8930,
      "geneSymbol": "MBD4",
      "hgvs": [
        "XM_011513268.1:c.16+1112G="
      ],
      "proteinEffect": {
        "hgvs": "XP_011511570.1:n.16+1112G="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS080520"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1232,
          "referenceAllele": "G",
          "start": 1231
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006919",
      "geneNCBI_id": 8930,
      "geneSymbol": "MBD4",
      "hgvs": [
        "XM_024453810.1:c.1036G="
      ],
      "proteinEffect": {
        "hgvs": "XP_024309578.1:p.Glu346="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS587185"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826551791",
      "coordinates": [
        {
          "allele": "G",
          "end": 1151,
          "referenceAllele": "G",
          "start": 1150
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006919",
      "geneNCBI_id": 8930,
      "geneSymbol": "MBD4",
      "hgvs": [
        "NM_001276270.2:c.1036G="
      ],
      "proteinEffect": {
        "hgvs": "NP_001263199.1:p.Glu346="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS681286",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000429544.7:c.1036G="
          },
          "RefSeq": {
            "hgvs": "NM_001276270.2:c.1036G="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000394080.2:p.Glu346="
          },
          "RefSeq": {
            "hgvs": "NP_001263199.1:p.Glu346="
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826552358",
      "coordinates": [
        {
          "allele": "G",
          "end": 1151,
          "referenceAllele": "G",
          "start": 1150
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006919",
      "geneNCBI_id": 8930,
      "geneSymbol": "MBD4",
      "hgvs": [
        "NM_001276272.2:c.1036G="
      ],
      "proteinEffect": {
        "hgvs": "NP_001263201.1:p.Glu346="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS681287"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829456704",
      "coordinates": [
        {
          "allele": "G",
          "end": 1151,
          "referenceAllele": "G",
          "start": 1150
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006919",
      "geneNCBI_id": 8930,
      "geneSymbol": "MBD4",
      "hgvs": [
        "NM_003925.3:c.1036G="
      ],
      "proteinEffect": {
        "hgvs": "NP_003916.1:p.Glu346="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS695986"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826552078",
      "coordinates": [
        {
          "allele": "G",
          "end": 1151,
          "referenceAllele": "G",
          "start": 1150
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006919",
      "geneNCBI_id": 8930,
      "geneSymbol": "MBD4",
      "hgvs": [
        "NM_001276271.2:c.1036G="
      ],
      "proteinEffect": {
        "hgvs": "NP_001263200.1:p.Glu346="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS715371"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 362,
          "endIntronDirection": "+",
          "endIntronOffset": 1200,
          "referenceAllele": "G",
          "start": 362,
          "startIntronDirection": "+",
          "startIntronOffset": 1199
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006919",
      "geneNCBI_id": 8930,
      "geneSymbol": "MBD4",
      "hgvs": [
        "NM_001276273.2:c.247+1200G="
      ],
      "proteinEffect": {
        "hgvs": "NP_001263202.1:n.247+1200G="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS715372"
    }
  ],
  "type": "nucleotide"
}