{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA2277862215",
  "communityStandardTitle": [
    "NM_000199.5(SGSH):c.1429G= (p.Asp477=)"
  ],
  "externalRecords": {
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/781572815",
        "rs": 781572815
      },
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/1064795109",
        "rs": 1064795109
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "17",
      "coordinates": [
        {
          "allele": "C",
          "end": 80210532,
          "referenceAllele": "C",
          "start": 80210531
        }
      ],
      "hgvs": [
        "NC_000017.11:g.80210532C=",
        "CM000679.2:g.80210532C="
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000065"
    },
    {
      "chromosome": "17",
      "coordinates": [
        {
          "allele": "C",
          "end": 78184331,
          "referenceAllele": "C",
          "start": 78184330
        }
      ],
      "hgvs": [
        "NC_000017.10:g.78184331C=",
        "CM000679.1:g.78184331C="
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000041"
    },
    {
      "chromosome": "17",
      "coordinates": [
        {
          "allele": "C",
          "end": 75798926,
          "referenceAllele": "C",
          "start": 75798925
        }
      ],
      "hgvs": [
        "NC_000017.9:g.75798926C="
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000017"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 14869,
          "referenceAllele": "G",
          "start": 14868
        }
      ],
      "hgvs": [
        "NG_008229.1:g.14869G="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS000961"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 45541,
          "referenceAllele": "C",
          "start": 45540
        }
      ],
      "hgvs": [
        "NG_032778.1:g.45541C="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS005215"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2844,
          "endIntronDirection": "+",
          "endIntronOffset": 1274,
          "referenceAllele": "C",
          "start": 2844,
          "startIntronDirection": "+",
          "startIntronOffset": 1273
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016446",
      "geneNCBI_id": 79092,
      "geneSymbol": "CARD14",
      "hgvs": [
        "ENST00000703570.1:n.2844+1274C="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS911808"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1449,
          "referenceAllele": "G",
          "start": 1448
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010818",
      "geneNCBI_id": 6448,
      "geneSymbol": "SGSH",
      "hgvs": [
        "ENST00000326317.11:c.1429G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000314606.6:p.Asp477="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS746758",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000326317.11:c.1429G="
          },
          "RefSeq": {
            "hgvs": "NM_000199.5:c.1429G="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000314606.6:p.Asp477="
          },
          "RefSeq": {
            "hgvs": "NP_000190.1:p.Asp477="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1516,
          "referenceAllele": "G",
          "start": 1515
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010818",
      "geneNCBI_id": 6448,
      "geneSymbol": "SGSH",
      "hgvs": [
        "ENST00000326317.10:c.1429G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000314606.6:p.Asp477="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS258604"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 551,
          "endIntronDirection": "+",
          "endIntronOffset": 1539,
          "referenceAllele": "G",
          "start": 551,
          "startIntronDirection": "+",
          "startIntronOffset": 1538
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010818",
      "geneNCBI_id": 6448,
      "geneSymbol": "SGSH",
      "hgvs": [
        "ENST00000572257.5:c.551+1539G="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS382848"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1370,
          "referenceAllele": "G",
          "start": 1369
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010818",
      "geneNCBI_id": 6448,
      "geneSymbol": "SGSH",
      "hgvs": [
        "ENST00000573150.5:c.*639G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000459280.1:n.*639G="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS383195"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 4312,
          "referenceAllele": "G",
          "start": 4311
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010818",
      "geneNCBI_id": 6448,
      "geneSymbol": "SGSH",
      "hgvs": [
        "ENST00000575282.5:n.4312G="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS384054"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 683,
          "referenceAllele": "G",
          "start": 682
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010818",
      "geneNCBI_id": 6448,
      "geneSymbol": "SGSH",
      "hgvs": [
        "ENST00000576856.1:c.683G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000460720.1:n.683G="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS384625"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825081152",
      "coordinates": [
        {
          "allele": "G",
          "end": 1516,
          "referenceAllele": "G",
          "start": 1515
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010818",
      "geneNCBI_id": 6448,
      "geneSymbol": "SGSH",
      "hgvs": [
        "NM_000199.3:c.1429G="
      ],
      "proteinEffect": {
        "hgvs": "NP_000190.1:p.Asp477="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006263"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 969,
          "endIntronDirection": "+",
          "endIntronOffset": 1539,
          "referenceAllele": "G",
          "start": 969,
          "startIntronDirection": "+",
          "startIntronOffset": 1538
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010818",
      "geneNCBI_id": 6448,
      "geneSymbol": "SGSH",
      "hgvs": [
        "XM_005257583.3:c.949+1539G="
      ],
      "proteinEffect": {
        "hgvs": "XP_005257640.1:n.949+1539G="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS061762"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825081152",
      "coordinates": [
        {
          "allele": "G",
          "end": 1516,
          "referenceAllele": "G",
          "start": 1515
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010818",
      "geneNCBI_id": 6448,
      "geneSymbol": "SGSH",
      "hgvs": [
        "NM_000199.4:c.1429G="
      ],
      "proteinEffect": {
        "hgvs": "NP_000190.1:p.Asp477="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS510763"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1692,
          "referenceAllele": "G",
          "start": 1691
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010818",
      "geneNCBI_id": 6448,
      "geneSymbol": "SGSH",
      "hgvs": [
        "NM_001352921.1:c.*516G="
      ],
      "proteinEffect": {
        "hgvs": "NP_001339850.1:n.*516G="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS521307"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1571,
          "referenceAllele": "G",
          "start": 1570
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010818",
      "geneNCBI_id": 6448,
      "geneSymbol": "SGSH",
      "hgvs": [
        "NM_001352922.1:c.*479G="
      ],
      "proteinEffect": {
        "hgvs": "NP_001339851.1:n.*479G="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS521308"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1410,
          "referenceAllele": "G",
          "start": 1409
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010818",
      "geneNCBI_id": 6448,
      "geneSymbol": "SGSH",
      "hgvs": [
        "NR_148201.1:n.1410G="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS531040"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 969,
          "endIntronDirection": "+",
          "endIntronOffset": 1539,
          "referenceAllele": "G",
          "start": 969,
          "startIntronDirection": "+",
          "startIntronOffset": 1538
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010818",
      "geneNCBI_id": 6448,
      "geneSymbol": "SGSH",
      "hgvs": [
        "XM_005257583.4:c.949+1539G="
      ],
      "proteinEffect": {
        "hgvs": "XP_005257640.1:n.949+1539G="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS534686"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2361,
          "referenceAllele": "G",
          "start": 2360
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010818",
      "geneNCBI_id": 6448,
      "geneSymbol": "SGSH",
      "hgvs": [
        "XM_017024952.1:c.*1333G="
      ],
      "proteinEffect": {
        "hgvs": "XP_016880441.1:n.*1333G="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS575389"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1449,
          "referenceAllele": "G",
          "start": 1448
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010818",
      "geneNCBI_id": 6448,
      "geneSymbol": "SGSH",
      "hgvs": [
        "XR_001752585.1:n.1449G="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS599268"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 969,
          "endIntronDirection": "+",
          "endIntronOffset": 1539,
          "referenceAllele": "G",
          "start": 969,
          "startIntronDirection": "+",
          "startIntronOffset": 1538
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010818",
      "geneNCBI_id": 6448,
      "geneSymbol": "SGSH",
      "hgvs": [
        "XR_001752586.1:n.969+1539G="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS599269"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 969,
          "endIntronDirection": "+",
          "endIntronOffset": 1539,
          "referenceAllele": "G",
          "start": 969,
          "startIntronDirection": "+",
          "startIntronOffset": 1538
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010818",
      "geneNCBI_id": 6448,
      "geneSymbol": "SGSH",
      "hgvs": [
        "XR_001752587.1:n.969+1539G="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS599270"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 969,
          "endIntronDirection": "+",
          "endIntronOffset": 1539,
          "referenceAllele": "G",
          "start": 969,
          "startIntronDirection": "+",
          "startIntronOffset": 1538
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010818",
      "geneNCBI_id": 6448,
      "geneSymbol": "SGSH",
      "hgvs": [
        "XR_001752588.1:n.969+1539G="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS599271"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 969,
          "endIntronDirection": "+",
          "endIntronOffset": 1539,
          "referenceAllele": "G",
          "start": 969,
          "startIntronDirection": "+",
          "startIntronOffset": 1538
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010818",
      "geneNCBI_id": 6448,
      "geneSymbol": "SGSH",
      "hgvs": [
        "XR_001752589.1:n.969+1539G="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS599272"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 969,
          "endIntronDirection": "+",
          "endIntronOffset": 1539,
          "referenceAllele": "G",
          "start": 969,
          "startIntronDirection": "+",
          "startIntronOffset": 1538
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010818",
      "geneNCBI_id": 6448,
      "geneSymbol": "SGSH",
      "hgvs": [
        "XR_001752590.1:n.969+1539G="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS599273"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 969,
          "endIntronDirection": "+",
          "endIntronOffset": 1539,
          "referenceAllele": "G",
          "start": 969,
          "startIntronDirection": "+",
          "startIntronOffset": 1538
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010818",
      "geneNCBI_id": 6448,
      "geneSymbol": "SGSH",
      "hgvs": [
        "XR_001752591.1:n.969+1539G="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS599274"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 969,
          "endIntronDirection": "+",
          "endIntronOffset": 1539,
          "referenceAllele": "G",
          "start": 969,
          "startIntronDirection": "+",
          "startIntronOffset": 1538
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010818",
      "geneNCBI_id": 6448,
      "geneSymbol": "SGSH",
      "hgvs": [
        "XR_001752592.1:n.969+1539G="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS599275"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1024,
          "endIntronDirection": "+",
          "endIntronOffset": 1337,
          "referenceAllele": "G",
          "start": 1024,
          "startIntronDirection": "+",
          "startIntronOffset": 1336
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010818",
      "geneNCBI_id": 6448,
      "geneSymbol": "SGSH",
      "hgvs": [
        "XR_002958057.1:n.1024+1337G="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS604184"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825081152",
      "coordinates": [
        {
          "allele": "G",
          "end": 1449,
          "referenceAllele": "G",
          "start": 1448
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010818",
      "geneNCBI_id": 6448,
      "geneSymbol": "SGSH",
      "hgvs": [
        "NM_000199.5:c.1429G="
      ],
      "proteinEffect": {
        "hgvs": "NP_000190.1:p.Asp477="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS662353",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000326317.11:c.1429G="
          },
          "RefSeq": {
            "hgvs": "NM_000199.5:c.1429G="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000314606.6:p.Asp477="
          },
          "RefSeq": {
            "hgvs": "NP_000190.1:p.Asp477="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1625,
          "referenceAllele": "G",
          "start": 1624
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010818",
      "geneNCBI_id": 6448,
      "geneSymbol": "SGSH",
      "hgvs": [
        "NM_001352921.2:c.*516G="
      ],
      "proteinEffect": {
        "hgvs": "NP_001339850.1:n.*516G="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS689496"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1504,
          "referenceAllele": "G",
          "start": 1503
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010818",
      "geneNCBI_id": 6448,
      "geneSymbol": "SGSH",
      "hgvs": [
        "NM_001352922.2:c.*479G="
      ],
      "proteinEffect": {
        "hgvs": "NP_001339851.1:n.*479G="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS689497"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1343,
          "referenceAllele": "G",
          "start": 1342
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010818",
      "geneNCBI_id": 6448,
      "geneSymbol": "SGSH",
      "hgvs": [
        "NR_148201.2:n.1343G="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS704706"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1625,
          "referenceAllele": "G",
          "start": 1624
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010818",
      "geneNCBI_id": 6448,
      "geneSymbol": "SGSH",
      "hgvs": [
        "NM_001352921.3:c.*516G="
      ],
      "proteinEffect": {
        "hgvs": "NP_001339850.1:n.*516G="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS720201"
    }
  ],
  "type": "nucleotide"
}