{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA1140070055",
  "communityStandardTitle": [
    "NM_001114600.3(SZRD1):c.52-11795G="
  ],
  "externalRecords": {
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/6603859",
        "rs": 6603859
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "1",
      "coordinates": [
        {
          "allele": "G",
          "end": 16379580,
          "referenceAllele": "G",
          "start": 16379579
        }
      ],
      "hgvs": [
        "NC_000001.11:g.16379580G=",
        "CM000663.2:g.16379580G="
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000049"
    },
    {
      "chromosome": "1",
      "coordinates": [
        {
          "allele": "G",
          "end": 16706075,
          "referenceAllele": "G",
          "start": 16706074
        }
      ],
      "hgvs": [
        "NC_000001.10:g.16706075G=",
        "CM000663.1:g.16706075G="
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000025"
    },
    {
      "chromosome": "1",
      "coordinates": [
        {
          "allele": "G",
          "end": 16578662,
          "referenceAllele": "G",
          "start": 16578661
        }
      ],
      "hgvs": [
        "NC_000001.9:g.16578662G="
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000001"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 67,
          "endIntronDirection": "-",
          "endIntronOffset": 11794,
          "referenceAllele": "G",
          "start": 67,
          "startIntronDirection": "-",
          "startIntronOffset": 11795
        }
      ],
      "gene": "http://reg.genome.network/gene/GN030232",
      "geneNCBI_id": 26099,
      "geneSymbol": "SZRD1",
      "hgvs": [
        "ENST00000401088.9:c.52-11795G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000383866.4:n.52-11795G="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS753958",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000401088.9:c.52-11795G="
          },
          "RefSeq": {
            "hgvs": "NM_001114600.3:c.52-11795G="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000383866.4:n.52-11795G="
          },
          "RefSeq": {
            "hgvs": "NP_001108072.1:n.52-11795G="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 226,
          "endIntronDirection": "-",
          "endIntronOffset": 11794,
          "referenceAllele": "G",
          "start": 226,
          "startIntronDirection": "-",
          "startIntronOffset": 11795
        }
      ],
      "gene": "http://reg.genome.network/gene/GN030232",
      "geneNCBI_id": 26099,
      "geneSymbol": "SZRD1",
      "hgvs": [
        "ENST00000401088.8:c.52-11795G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000383866.4:n.52-11795G="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS279202"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 84,
          "endIntronDirection": "+",
          "endIntronOffset": 12272,
          "referenceAllele": "G",
          "start": 84,
          "startIntronDirection": "+",
          "startIntronOffset": 12271
        }
      ],
      "gene": "http://reg.genome.network/gene/GN030232",
      "geneNCBI_id": 26099,
      "geneSymbol": "SZRD1",
      "hgvs": [
        "ENST00000401089.3:c.44+12272G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000383867.3:n.44+12272G="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS279203"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 221,
          "endIntronDirection": "-",
          "endIntronOffset": 11794,
          "referenceAllele": "G",
          "start": 221,
          "startIntronDirection": "-",
          "startIntronOffset": 11795
        }
      ],
      "gene": "http://reg.genome.network/gene/GN030232",
      "geneNCBI_id": 26099,
      "geneSymbol": "SZRD1",
      "hgvs": [
        "ENST00000471507.5:c.52-11795G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000419589.1:n.52-11795G="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS313696"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 62,
          "endIntronDirection": "-",
          "endIntronOffset": 7474,
          "referenceAllele": "G",
          "start": 62,
          "startIntronDirection": "-",
          "startIntronOffset": 7475
        }
      ],
      "gene": "http://reg.genome.network/gene/GN030232",
      "geneNCBI_id": 26099,
      "geneSymbol": "SZRD1",
      "hgvs": [
        "ENST00000472351.5:n.63-7475G="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS314342"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 305,
          "endIntronDirection": "+",
          "endIntronOffset": 11565,
          "referenceAllele": "G",
          "start": 305,
          "startIntronDirection": "+",
          "startIntronOffset": 11564
        }
      ],
      "gene": "http://reg.genome.network/gene/GN030232",
      "geneNCBI_id": 26099,
      "geneSymbol": "SZRD1",
      "hgvs": [
        "ENST00000472461.1:n.305+11565G="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS314422"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 362,
          "endIntronDirection": "-",
          "endIntronOffset": 13647,
          "referenceAllele": "G",
          "start": 362,
          "startIntronDirection": "-",
          "startIntronOffset": 13648
        }
      ],
      "gene": "http://reg.genome.network/gene/GN030232",
      "geneNCBI_id": 26099,
      "geneSymbol": "SZRD1",
      "hgvs": [
        "ENST00000475078.1:n.363-13648G="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS316439"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 66,
          "endIntronDirection": "-",
          "endIntronOffset": 10969,
          "referenceAllele": "G",
          "start": 66,
          "startIntronDirection": "-",
          "startIntronOffset": 10970
        }
      ],
      "gene": "http://reg.genome.network/gene/GN030232",
      "geneNCBI_id": 26099,
      "geneSymbol": "SZRD1",
      "hgvs": [
        "ENST00000475554.5:n.67-10970G="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS316813"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 66,
          "endIntronDirection": "-",
          "endIntronOffset": 7921,
          "referenceAllele": "G",
          "start": 66,
          "startIntronDirection": "-",
          "startIntronOffset": 7922
        }
      ],
      "gene": "http://reg.genome.network/gene/GN030232",
      "geneNCBI_id": 26099,
      "geneSymbol": "SZRD1",
      "hgvs": [
        "ENST00000476423.5:c.45-7922G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000420441.1:n.45-7922G="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS317478"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 74,
          "endIntronDirection": "-",
          "endIntronOffset": 7474,
          "referenceAllele": "G",
          "start": 74,
          "startIntronDirection": "-",
          "startIntronOffset": 7475
        }
      ],
      "gene": "http://reg.genome.network/gene/GN030232",
      "geneNCBI_id": 26099,
      "geneSymbol": "SZRD1",
      "hgvs": [
        "ENST00000486763.5:n.75-7475G="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS325493"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 44,
          "endIntronDirection": "+",
          "endIntronOffset": 12272,
          "referenceAllele": "G",
          "start": 44,
          "startIntronDirection": "+",
          "startIntronOffset": 12271
        }
      ],
      "gene": "http://reg.genome.network/gene/GN030232",
      "geneNCBI_id": 26099,
      "geneSymbol": "SZRD1",
      "hgvs": [
        "ENST00000492354.1:c.44+12272G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000418012.1:n.44+12272G="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS329750"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 279,
          "endIntronDirection": "-",
          "endIntronOffset": 11794,
          "referenceAllele": "G",
          "start": 279,
          "startIntronDirection": "-",
          "startIntronOffset": 11795
        }
      ],
      "gene": "http://reg.genome.network/gene/GN030232",
      "geneNCBI_id": 26099,
      "geneSymbol": "SZRD1",
      "hgvs": [
        "NM_001114600.2:c.52-11795G="
      ],
      "proteinEffect": {
        "hgvs": "NP_001108072.1:n.52-11795G="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS011330"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 279,
          "endIntronDirection": "-",
          "endIntronOffset": 11794,
          "referenceAllele": "G",
          "start": 279,
          "startIntronDirection": "-",
          "startIntronOffset": 11795
        }
      ],
      "gene": "http://reg.genome.network/gene/GN030232",
      "geneNCBI_id": 26099,
      "geneSymbol": "SZRD1",
      "hgvs": [
        "NM_001271869.1:c.52-11795G="
      ],
      "proteinEffect": {
        "hgvs": "NP_001258798.1:n.52-11795G="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS020693"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 279,
          "endIntronDirection": "+",
          "endIntronOffset": 12272,
          "referenceAllele": "G",
          "start": 279,
          "startIntronDirection": "+",
          "startIntronOffset": 12271
        }
      ],
      "gene": "http://reg.genome.network/gene/GN030232",
      "geneNCBI_id": 26099,
      "geneSymbol": "SZRD1",
      "hgvs": [
        "NR_073500.1:n.279+12272G="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS052644"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 279,
          "endIntronDirection": "-",
          "endIntronOffset": 7474,
          "referenceAllele": "G",
          "start": 279,
          "startIntronDirection": "-",
          "startIntronOffset": 7475
        }
      ],
      "gene": "http://reg.genome.network/gene/GN030232",
      "geneNCBI_id": 26099,
      "geneSymbol": "SZRD1",
      "hgvs": [
        "NR_073501.1:n.280-7475G="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS052645"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 279,
          "endIntronDirection": "+",
          "endIntronOffset": 12272,
          "referenceAllele": "G",
          "start": 279,
          "startIntronDirection": "+",
          "startIntronOffset": 12271
        }
      ],
      "gene": "http://reg.genome.network/gene/GN030232",
      "geneNCBI_id": 26099,
      "geneSymbol": "SZRD1",
      "hgvs": [
        "NR_073502.1:n.279+12272G="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS052646"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 279,
          "endIntronDirection": "+",
          "endIntronOffset": 12272,
          "referenceAllele": "G",
          "start": 279,
          "startIntronDirection": "+",
          "startIntronOffset": 12271
        }
      ],
      "gene": "http://reg.genome.network/gene/GN030232",
      "geneNCBI_id": 26099,
      "geneSymbol": "SZRD1",
      "hgvs": [
        "NR_073503.1:n.279+12272G="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS052647"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 67,
          "endIntronDirection": "-",
          "endIntronOffset": 11794,
          "referenceAllele": "G",
          "start": 67,
          "startIntronDirection": "-",
          "startIntronOffset": 11795
        }
      ],
      "gene": "http://reg.genome.network/gene/GN030232",
      "geneNCBI_id": 26099,
      "geneSymbol": "SZRD1",
      "hgvs": [
        "NM_001114600.3:c.52-11795G="
      ],
      "proteinEffect": {
        "hgvs": "NP_001108072.1:n.52-11795G="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS663515",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000401088.9:c.52-11795G="
          },
          "RefSeq": {
            "hgvs": "NM_001114600.3:c.52-11795G="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000383866.4:n.52-11795G="
          },
          "RefSeq": {
            "hgvs": "NP_001108072.1:n.52-11795G="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 67,
          "endIntronDirection": "-",
          "endIntronOffset": 11794,
          "referenceAllele": "G",
          "start": 67,
          "startIntronDirection": "-",
          "startIntronOffset": 11795
        }
      ],
      "gene": "http://reg.genome.network/gene/GN030232",
      "geneNCBI_id": 26099,
      "geneSymbol": "SZRD1",
      "hgvs": [
        "NM_001271869.2:c.52-11795G="
      ],
      "proteinEffect": {
        "hgvs": "NP_001258798.1:n.52-11795G="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS681225"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 67,
          "endIntronDirection": "+",
          "endIntronOffset": 12272,
          "referenceAllele": "G",
          "start": 67,
          "startIntronDirection": "+",
          "startIntronOffset": 12271
        }
      ],
      "gene": "http://reg.genome.network/gene/GN030232",
      "geneNCBI_id": 26099,
      "geneSymbol": "SZRD1",
      "hgvs": [
        "NR_073500.2:n.67+12272G="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS702742"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 67,
          "endIntronDirection": "-",
          "endIntronOffset": 7474,
          "referenceAllele": "G",
          "start": 67,
          "startIntronDirection": "-",
          "startIntronOffset": 7475
        }
      ],
      "gene": "http://reg.genome.network/gene/GN030232",
      "geneNCBI_id": 26099,
      "geneSymbol": "SZRD1",
      "hgvs": [
        "NR_073501.2:n.68-7475G="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS702743"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 67,
          "endIntronDirection": "+",
          "endIntronOffset": 12272,
          "referenceAllele": "G",
          "start": 67,
          "startIntronDirection": "+",
          "startIntronOffset": 12271
        }
      ],
      "gene": "http://reg.genome.network/gene/GN030232",
      "geneNCBI_id": 26099,
      "geneSymbol": "SZRD1",
      "hgvs": [
        "NR_073502.2:n.67+12272G="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS702744"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 67,
          "endIntronDirection": "+",
          "endIntronOffset": 12272,
          "referenceAllele": "G",
          "start": 67,
          "startIntronDirection": "+",
          "startIntronOffset": 12271
        }
      ],
      "gene": "http://reg.genome.network/gene/GN030232",
      "geneNCBI_id": 26099,
      "geneSymbol": "SZRD1",
      "hgvs": [
        "NR_073503.2:n.67+12272G="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS702745"
    }
  ],
  "type": "nucleotide"
}