{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA1730758709",
  "communityStandardTitle": [
    "NM_005045.4(RELN):c.9427T= (p.Tyr3143=)"
  ],
  "externalRecords": {
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/863223388",
        "rs": 863223388
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "7",
      "coordinates": [
        {
          "allele": "A",
          "end": 103491969,
          "referenceAllele": "A",
          "start": 103491968
        }
      ],
      "hgvs": [
        "NC_000007.14:g.103491969A=",
        "CM000669.2:g.103491969A="
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000055"
    },
    {
      "chromosome": "7",
      "coordinates": [
        {
          "allele": "A",
          "end": 103132416,
          "referenceAllele": "A",
          "start": 103132415
        }
      ],
      "hgvs": [
        "NC_000007.13:g.103132416A=",
        "CM000669.1:g.103132416A="
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000031"
    },
    {
      "chromosome": "7",
      "coordinates": [
        {
          "allele": "A",
          "end": 102919652,
          "referenceAllele": "A",
          "start": 102919651
        }
      ],
      "hgvs": [
        "NC_000007.12:g.102919652A="
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000007"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 502548,
          "referenceAllele": "T",
          "start": 502547
        }
      ],
      "hgvs": [
        "NG_011877.1:g.502548T="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS002040"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 502548,
          "referenceAllele": "T",
          "start": 502547
        }
      ],
      "hgvs": [
        "NG_011877.2:g.502548T="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS673565"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 9587,
          "referenceAllele": "T",
          "start": 9586
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009957",
      "geneNCBI_id": 5649,
      "geneSymbol": "RELN",
      "hgvs": [
        "ENST00000424685.3:c.9427T="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000388446.3:p.Tyr3143="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS755042"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 9729,
          "referenceAllele": "T",
          "start": 9728
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009957",
      "geneNCBI_id": 5649,
      "geneSymbol": "RELN",
      "hgvs": [
        "ENST00000428762.6:c.9427T="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000392423.1:p.Tyr3143="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS755239",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000428762.6:c.9427T="
          },
          "RefSeq": {
            "hgvs": "NM_005045.4:c.9427T="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000392423.1:p.Tyr3143="
          },
          "RefSeq": {
            "hgvs": "NP_005036.2:p.Tyr3143="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1184,
          "referenceAllele": "T",
          "start": 1183
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009957",
      "geneNCBI_id": 5649,
      "geneSymbol": "RELN",
      "hgvs": [
        "ENST00000679371.1:n.1184T="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS779004"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 9311,
          "referenceAllele": "T",
          "start": 9310
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009957",
      "geneNCBI_id": 5649,
      "geneSymbol": "RELN",
      "hgvs": [
        "ENST00000679867.1:n.9311T="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS779489"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2979,
          "referenceAllele": "T",
          "start": 2978
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009957",
      "geneNCBI_id": 5649,
      "geneSymbol": "RELN",
      "hgvs": [
        "ENST00000680248.1:n.2979T="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS779868"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 9587,
          "referenceAllele": "T",
          "start": 9586
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009957",
      "geneNCBI_id": 5649,
      "geneSymbol": "RELN",
      "hgvs": [
        "ENST00000681034.1:c.9427T="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000506075.1:p.Tyr3143="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS780647"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2676,
          "referenceAllele": "T",
          "start": 2675
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009957",
      "geneNCBI_id": 5649,
      "geneSymbol": "RELN",
      "hgvs": [
        "ENST00000681364.1:n.2676T="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS780974"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3651,
          "referenceAllele": "T",
          "start": 3650
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009957",
      "geneNCBI_id": 5649,
      "geneSymbol": "RELN",
      "hgvs": [
        "ENST00000681921.1:n.3651T="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS781521"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 9587,
          "referenceAllele": "T",
          "start": 9586
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009957",
      "geneNCBI_id": 5649,
      "geneSymbol": "RELN",
      "hgvs": [
        "ENST00000343529.9:c.9427T="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000345694.5:p.Tyr3143="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS261783"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 9587,
          "referenceAllele": "T",
          "start": 9586
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009957",
      "geneNCBI_id": 5649,
      "geneSymbol": "RELN",
      "hgvs": [
        "ENST00000424685.2:c.9427T="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000388446.2:p.Tyr3143="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS288387"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 9587,
          "referenceAllele": "T",
          "start": 9586
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009957",
      "geneNCBI_id": 5649,
      "geneSymbol": "RELN",
      "hgvs": [
        "ENST00000428762.5:c.9427T="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000392423.1:p.Tyr3143="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS290350"
    },
    {
      "@id": "http://reg.genome.network/allele/PA3073867191",
      "coordinates": [
        {
          "allele": "T",
          "end": 9587,
          "referenceAllele": "T",
          "start": 9586
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009957",
      "geneNCBI_id": 5649,
      "geneSymbol": "RELN",
      "hgvs": [
        "NM_005045.3:c.9427T="
      ],
      "proteinEffect": {
        "hgvs": "NP_005036.2:p.Tyr3143="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS030174"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 9587,
          "referenceAllele": "T",
          "start": 9586
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009957",
      "geneNCBI_id": 5649,
      "geneSymbol": "RELN",
      "hgvs": [
        "NM_173054.2:c.9427T="
      ],
      "proteinEffect": {
        "hgvs": "NP_774959.1:p.Tyr3143="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS042753"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1365,
          "endIntronDirection": "-",
          "endIntronOffset": 12434,
          "referenceAllele": "A",
          "start": 1365,
          "startIntronDirection": "-",
          "startIntronOffset": 12435
        }
      ],
      "gene": "http://reg.genome.network/gene/GN055680",
      "geneNCBI_id": 101927870,
      "geneSymbol": "SLC26A5-AS1",
      "hgvs": [
        "NR_110141.1:n.1366-12435A="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS054426"
    },
    {
      "@id": "http://reg.genome.network/allele/PA3073867191",
      "coordinates": [
        {
          "allele": "T",
          "end": 9729,
          "referenceAllele": "T",
          "start": 9728
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009957",
      "geneNCBI_id": 5649,
      "geneSymbol": "RELN",
      "hgvs": [
        "NM_005045.4:c.9427T="
      ],
      "proteinEffect": {
        "hgvs": "NP_005036.2:p.Tyr3143="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS666784",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000428762.6:c.9427T="
          },
          "RefSeq": {
            "hgvs": "NM_005045.4:c.9427T="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000392423.1:p.Tyr3143="
          },
          "RefSeq": {
            "hgvs": "NP_005036.2:p.Tyr3143="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 9729,
          "referenceAllele": "T",
          "start": 9728
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009957",
      "geneNCBI_id": 5649,
      "geneSymbol": "RELN",
      "hgvs": [
        "NM_173054.3:c.9427T="
      ],
      "proteinEffect": {
        "hgvs": "NP_774959.1:p.Tyr3143="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS729556"
    }
  ],
  "type": "nucleotide"
}