{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA1406373030",
  "communityStandardTitle": [
    "NM_080862.3(SPSB4):c.694+13573G>C"
  ],
  "externalRecords": {
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/16851055",
        "rs": 16851055
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "3",
      "coordinates": [
        {
          "allele": "C",
          "end": 141080371,
          "referenceAllele": "G",
          "start": 141080370
        }
      ],
      "hgvs": [
        "NC_000003.12:g.141080371G>C",
        "CM000665.2:g.141080371G>C"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000051"
    },
    {
      "chromosome": "3",
      "coordinates": [
        {
          "allele": "C",
          "end": 140799213,
          "referenceAllele": "G",
          "start": 140799212
        }
      ],
      "hgvs": [
        "NC_000003.11:g.140799213G>C",
        "CM000665.1:g.140799213G>C"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000027"
    },
    {
      "chromosome": "3",
      "coordinates": [
        {
          "allele": "C",
          "end": 142281903,
          "referenceAllele": "G",
          "start": 142281902
        }
      ],
      "hgvs": [
        "NC_000003.10:g.142281903G>C"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000003"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1493,
          "endIntronDirection": "+",
          "endIntronOffset": 13573,
          "referenceAllele": "G",
          "start": 1493,
          "startIntronDirection": "+",
          "startIntronOffset": 13572
        }
      ],
      "gene": "http://reg.genome.network/gene/GN030630",
      "geneNCBI_id": 92369,
      "geneSymbol": "SPSB4",
      "hgvs": [
        "ENST00000310546.3:c.694+13573G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000311609.2:n.694+13573G>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS745645",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000310546.3:c.694+13573G>C"
          },
          "RefSeq": {
            "hgvs": "NM_080862.3:c.694+13573G>C"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000311609.2:n.694+13573G>C"
          },
          "RefSeq": {
            "hgvs": "NP_543138.1:n.694+13573G>C"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1438,
          "endIntronDirection": "+",
          "endIntronOffset": 13573,
          "referenceAllele": "G",
          "start": 1438,
          "startIntronDirection": "+",
          "startIntronOffset": 13572
        }
      ],
      "gene": "http://reg.genome.network/gene/GN030630",
      "geneNCBI_id": 92369,
      "geneSymbol": "SPSB4",
      "hgvs": [
        "ENST00000310546.2:c.694+13573G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000311609.2:n.694+13573G>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS256385"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 220,
          "referenceAllele": "G",
          "start": 219
        }
      ],
      "gene": "http://reg.genome.network/gene/GN030630",
      "geneNCBI_id": 92369,
      "geneSymbol": "SPSB4",
      "hgvs": [
        "ENST00000507895.1:n.220G>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS339063"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 161,
          "endIntronDirection": "+",
          "endIntronOffset": 13573,
          "referenceAllele": "G",
          "start": 161,
          "startIntronDirection": "+",
          "startIntronOffset": 13572
        }
      ],
      "gene": "http://reg.genome.network/gene/GN030630",
      "geneNCBI_id": 92369,
      "geneSymbol": "SPSB4",
      "hgvs": [
        "ENST00000508126.1:c.161+13573G>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS339227"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 535,
          "referenceAllele": "G",
          "start": 534
        }
      ],
      "gene": "http://reg.genome.network/gene/GN030630",
      "geneNCBI_id": 92369,
      "geneSymbol": "SPSB4",
      "hgvs": [
        "ENST00000508828.1:n.535G>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS339756"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1438,
          "endIntronDirection": "+",
          "endIntronOffset": 13573,
          "referenceAllele": "G",
          "start": 1438,
          "startIntronDirection": "+",
          "startIntronOffset": 13572
        }
      ],
      "gene": "http://reg.genome.network/gene/GN030630",
      "geneNCBI_id": 92369,
      "geneSymbol": "SPSB4",
      "hgvs": [
        "NM_080862.2:c.694+13573G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_543138.1:n.694+13573G>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS040317"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 898,
          "endIntronDirection": "+",
          "endIntronOffset": 13573,
          "referenceAllele": "G",
          "start": 898,
          "startIntronDirection": "+",
          "startIntronOffset": 13572
        }
      ],
      "gene": "http://reg.genome.network/gene/GN030630",
      "geneNCBI_id": 92369,
      "geneSymbol": "SPSB4",
      "hgvs": [
        "XM_011513313.1:c.694+13573G>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011511615.1:n.694+13573G>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS080565"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1510,
          "referenceAllele": "G",
          "start": 1509
        }
      ],
      "gene": "http://reg.genome.network/gene/GN030630",
      "geneNCBI_id": 92369,
      "geneSymbol": "SPSB4",
      "hgvs": [
        "XR_924215.1:n.1510G>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS121275"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1510,
          "referenceAllele": "G",
          "start": 1509
        }
      ],
      "gene": "http://reg.genome.network/gene/GN030630",
      "geneNCBI_id": 92369,
      "geneSymbol": "SPSB4",
      "hgvs": [
        "XR_924216.1:n.1510G>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS121276"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 991,
          "referenceAllele": "G",
          "start": 990
        }
      ],
      "gene": "http://reg.genome.network/gene/GN030630",
      "geneNCBI_id": 92369,
      "geneSymbol": "SPSB4",
      "hgvs": [
        "XM_017007509.2:c.*74G>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_016862998.1:n.*74G>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS562238"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 991,
          "referenceAllele": "G",
          "start": 990
        }
      ],
      "gene": "http://reg.genome.network/gene/GN030630",
      "geneNCBI_id": 92369,
      "geneSymbol": "SPSB4",
      "hgvs": [
        "XR_924215.3:n.991G>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS607650"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 991,
          "referenceAllele": "G",
          "start": 990
        }
      ],
      "gene": "http://reg.genome.network/gene/GN030630",
      "geneNCBI_id": 92369,
      "geneSymbol": "SPSB4",
      "hgvs": [
        "XR_924216.3:n.991G>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS607651"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1493,
          "endIntronDirection": "+",
          "endIntronOffset": 13573,
          "referenceAllele": "G",
          "start": 1493,
          "startIntronDirection": "+",
          "startIntronOffset": 13572
        }
      ],
      "gene": "http://reg.genome.network/gene/GN030630",
      "geneNCBI_id": 92369,
      "geneSymbol": "SPSB4",
      "hgvs": [
        "NM_080862.3:c.694+13573G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_543138.1:n.694+13573G>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS671779",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000310546.3:c.694+13573G>C"
          },
          "RefSeq": {
            "hgvs": "NM_080862.3:c.694+13573G>C"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000311609.2:n.694+13573G>C"
          },
          "RefSeq": {
            "hgvs": "NP_543138.1:n.694+13573G>C"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}