{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA2323624922",
  "communityStandardTitle": [
    "NM_000159.4(GCDH):c.1247C= (p.Thr416=)",
    "NM_001105578.2(SYCE2):c.613-86G="
  ],
  "externalRecords": {
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/121434368",
        "rs": 121434368
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "19",
      "coordinates": [
        {
          "allele": "C",
          "end": 12899471,
          "referenceAllele": "C",
          "start": 12899470
        }
      ],
      "hgvs": [
        "NC_000019.10:g.12899471C=",
        "CM000681.2:g.12899471C="
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000067"
    },
    {
      "chromosome": "19",
      "coordinates": [
        {
          "allele": "C",
          "end": 13010285,
          "referenceAllele": "C",
          "start": 13010284
        }
      ],
      "hgvs": [
        "NC_000019.9:g.13010285C=",
        "CM000681.1:g.13010285C="
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000043"
    },
    {
      "chromosome": "19",
      "coordinates": [
        {
          "allele": "C",
          "end": 12871285,
          "referenceAllele": "C",
          "start": 12871284
        }
      ],
      "hgvs": [
        "NC_000019.8:g.12871285C="
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000019"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 13312,
          "referenceAllele": "C",
          "start": 13311
        }
      ],
      "hgvs": [
        "NG_009292.1:g.13312C="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001548"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 24802,
          "referenceAllele": "G",
          "start": 24801
        }
      ],
      "hgvs": [
        "NG_033049.1:g.24802G="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS005381"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1324,
          "referenceAllele": "C",
          "start": 1323
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004189",
      "geneNCBI_id": 2639,
      "geneSymbol": "GCDH",
      "hgvs": [
        "ENST00000222214.10:c.1247C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000222214.4:p.Thr416="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS740551",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000222214.10:c.1247C="
          },
          "RefSeq": {
            "hgvs": "NM_000159.4:c.1247C="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000222214.4:p.Thr416="
          },
          "RefSeq": {
            "hgvs": "NP_000150.1:p.Thr416="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 648,
          "endIntronDirection": "-",
          "endIntronOffset": 85,
          "referenceAllele": "G",
          "start": 648,
          "startIntronDirection": "-",
          "startIntronOffset": 86
        }
      ],
      "gene": "http://reg.genome.network/gene/GN027411",
      "geneNCBI_id": 256126,
      "geneSymbol": "SYCE2",
      "hgvs": [
        "ENST00000293695.8:c.613-86G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000293695.6:n.613-86G="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS744175",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000293695.8:c.613-86G="
          },
          "RefSeq": {
            "hgvs": "NM_001105578.2:c.613-86G="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000293695.6:n.613-86G="
          },
          "RefSeq": {
            "hgvs": "NP_001099048.1:n.613-86G="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1458,
          "referenceAllele": "C",
          "start": 1457
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004189",
      "geneNCBI_id": 2639,
      "geneSymbol": "GCDH",
      "hgvs": [
        "ENST00000222214.9:c.1247C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000222214.4:p.Thr416="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS248350"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 631,
          "endIntronDirection": "-",
          "endIntronOffset": 85,
          "referenceAllele": "G",
          "start": 631,
          "startIntronDirection": "-",
          "startIntronOffset": 86
        }
      ],
      "gene": "http://reg.genome.network/gene/GN027411",
      "geneNCBI_id": 256126,
      "geneSymbol": "SYCE2",
      "hgvs": [
        "ENST00000293695.7:c.613-86G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000293695.6:n.613-86G="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS253899"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1577,
          "referenceAllele": "C",
          "start": 1576
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004189",
      "geneNCBI_id": 2639,
      "geneSymbol": "GCDH",
      "hgvs": [
        "ENST00000585420.5:n.1577C="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS388707"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1373,
          "referenceAllele": "C",
          "start": 1372
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004189",
      "geneNCBI_id": 2639,
      "geneSymbol": "GCDH",
      "hgvs": [
        "ENST00000590530.5:c.*687C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000468452.1:n.*687C="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS392249"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1557,
          "referenceAllele": "C",
          "start": 1556
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004189",
      "geneNCBI_id": 2639,
      "geneSymbol": "GCDH",
      "hgvs": [
        "ENST00000591043.1:n.1557C="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS392611"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 210,
          "endIntronDirection": "+",
          "endIntronOffset": 1608,
          "referenceAllele": "C",
          "start": 210,
          "startIntronDirection": "+",
          "startIntronOffset": 1607
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004189",
      "geneNCBI_id": 2639,
      "geneSymbol": "GCDH",
      "hgvs": [
        "ENST00000591050.1:c.210+1608C="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS392617"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1392,
          "referenceAllele": "C",
          "start": 1391
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004189",
      "geneNCBI_id": 2639,
      "geneSymbol": "GCDH",
      "hgvs": [
        "ENST00000591470.5:c.1247C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000466845.1:p.Thr416="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS392892"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 185,
          "endIntronDirection": "-",
          "endIntronOffset": 85,
          "referenceAllele": "G",
          "start": 185,
          "startIntronDirection": "-",
          "startIntronOffset": 86
        }
      ],
      "gene": "http://reg.genome.network/gene/GN027411",
      "geneNCBI_id": 256126,
      "geneSymbol": "SYCE2",
      "hgvs": [
        "ENST00000592819.1:c.186-86G="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS393830"
    },
    {
      "@id": "http://reg.genome.network/allele/PA3085875529",
      "coordinates": [
        {
          "allele": "C",
          "end": 1355,
          "referenceAllele": "C",
          "start": 1354
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004189",
      "geneNCBI_id": 2639,
      "geneSymbol": "GCDH",
      "hgvs": [
        "NM_000159.3:c.1247C="
      ],
      "proteinEffect": {
        "hgvs": "NP_000150.1:p.Thr416="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006221"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 627,
          "endIntronDirection": "-",
          "endIntronOffset": 85,
          "referenceAllele": "G",
          "start": 627,
          "startIntronDirection": "-",
          "startIntronOffset": 86
        }
      ],
      "gene": "http://reg.genome.network/gene/GN027411",
      "geneNCBI_id": 256126,
      "geneSymbol": "SYCE2",
      "hgvs": [
        "NM_001105578.1:c.613-86G="
      ],
      "proteinEffect": {
        "hgvs": "NP_001099048.1:n.613-86G="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS011124"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1351,
          "endIntronDirection": "-",
          "endIntronOffset": 228,
          "referenceAllele": "C",
          "start": 1351,
          "startIntronDirection": "-",
          "startIntronOffset": 229
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004189",
      "geneNCBI_id": 2639,
      "geneSymbol": "GCDH",
      "hgvs": [
        "NM_013976.3:c.1244-229C="
      ],
      "proteinEffect": {
        "hgvs": "NP_039663.1:n.1244-229C="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS032843"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1410,
          "referenceAllele": "C",
          "start": 1409
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004189",
      "geneNCBI_id": 2639,
      "geneSymbol": "GCDH",
      "hgvs": [
        "NR_102316.1:n.1410C="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS052774"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1628,
          "referenceAllele": "C",
          "start": 1627
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004189",
      "geneNCBI_id": 2639,
      "geneSymbol": "GCDH",
      "hgvs": [
        "NR_102317.1:n.1628C="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS052775"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 743,
          "endIntronDirection": "-",
          "endIntronOffset": 85,
          "referenceAllele": "G",
          "start": 743,
          "startIntronDirection": "-",
          "startIntronOffset": 86
        }
      ],
      "gene": "http://reg.genome.network/gene/GN027411",
      "geneNCBI_id": 256126,
      "geneSymbol": "SYCE2",
      "hgvs": [
        "XM_005259848.3:c.*23-86G="
      ],
      "proteinEffect": {
        "hgvs": "XP_005259905.1:n.*23-86G="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS062567"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1320,
          "endIntronDirection": "-",
          "endIntronOffset": 762,
          "referenceAllele": "C",
          "start": 1320,
          "startIntronDirection": "-",
          "startIntronOffset": 763
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004189",
      "geneNCBI_id": 2639,
      "geneSymbol": "GCDH",
      "hgvs": [
        "XM_006722721.2:c.1244-763C="
      ],
      "proteinEffect": {
        "hgvs": "XP_006722784.1:n.1244-763C="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS074704"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 694,
          "endIntronDirection": "-",
          "endIntronOffset": 85,
          "referenceAllele": "G",
          "start": 694,
          "startIntronDirection": "-",
          "startIntronOffset": 86
        }
      ],
      "gene": "http://reg.genome.network/gene/GN027411",
      "geneNCBI_id": 256126,
      "geneSymbol": "SYCE2",
      "hgvs": [
        "XM_011527882.1:c.610-86G="
      ],
      "proteinEffect": {
        "hgvs": "XP_011526184.1:n.610-86G="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS094963"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 741,
          "endIntronDirection": "-",
          "endIntronOffset": 85,
          "referenceAllele": "G",
          "start": 741,
          "startIntronDirection": "-",
          "startIntronOffset": 86
        }
      ],
      "gene": "http://reg.genome.network/gene/GN027411",
      "geneNCBI_id": 256126,
      "geneSymbol": "SYCE2",
      "hgvs": [
        "XM_011527883.1:c.*23-86G="
      ],
      "proteinEffect": {
        "hgvs": "XP_011526185.1:n.*23-86G="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS094964"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1320,
          "endIntronDirection": "+",
          "endIntronOffset": 1608,
          "referenceAllele": "C",
          "start": 1320,
          "startIntronDirection": "+",
          "startIntronOffset": 1607
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004189",
      "geneNCBI_id": 2639,
      "geneSymbol": "GCDH",
      "hgvs": [
        "XM_011527899.1:c.1243+1608C="
      ],
      "proteinEffect": {
        "hgvs": "XP_011526201.1:n.1243+1608C="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS094980"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1320,
          "endIntronDirection": "-",
          "endIntronOffset": 762,
          "referenceAllele": "C",
          "start": 1320,
          "startIntronDirection": "-",
          "startIntronOffset": 763
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004189",
      "geneNCBI_id": 2639,
      "geneSymbol": "GCDH",
      "hgvs": [
        "XM_011527900.1:c.1244-763C="
      ],
      "proteinEffect": {
        "hgvs": "XP_011526202.1:n.1244-763C="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS094981"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 745,
          "endIntronDirection": "-",
          "endIntronOffset": 85,
          "referenceAllele": "G",
          "start": 745,
          "startIntronDirection": "-",
          "startIntronOffset": 86
        }
      ],
      "gene": "http://reg.genome.network/gene/GN027411",
      "geneNCBI_id": 256126,
      "geneSymbol": "SYCE2",
      "hgvs": [
        "XM_005259848.4:c.*23-86G="
      ],
      "proteinEffect": {
        "hgvs": "XP_005259905.1:n.*23-86G="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS535074"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1026,
          "endIntronDirection": "-",
          "endIntronOffset": 85,
          "referenceAllele": "G",
          "start": 1026,
          "startIntronDirection": "-",
          "startIntronOffset": 86
        }
      ],
      "gene": "http://reg.genome.network/gene/GN027411",
      "geneNCBI_id": 256126,
      "geneSymbol": "SYCE2",
      "hgvs": [
        "XM_011527882.2:c.610-86G="
      ],
      "proteinEffect": {
        "hgvs": "XP_011526184.1:n.610-86G="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS548860"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1072,
          "endIntronDirection": "-",
          "endIntronOffset": 85,
          "referenceAllele": "G",
          "start": 1072,
          "startIntronDirection": "-",
          "startIntronOffset": 86
        }
      ],
      "gene": "http://reg.genome.network/gene/GN027411",
      "geneNCBI_id": 256126,
      "geneSymbol": "SYCE2",
      "hgvs": [
        "XM_011527883.2:c.*23-86G="
      ],
      "proteinEffect": {
        "hgvs": "XP_011526185.1:n.*23-86G="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS548861"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1320,
          "endIntronDirection": "+",
          "endIntronOffset": 1608,
          "referenceAllele": "C",
          "start": 1320,
          "startIntronDirection": "+",
          "startIntronOffset": 1607
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004189",
      "geneNCBI_id": 2639,
      "geneSymbol": "GCDH",
      "hgvs": [
        "XM_011527899.2:c.1243+1608C="
      ],
      "proteinEffect": {
        "hgvs": "XP_011526201.1:n.1243+1608C="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS548874"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1320,
          "endIntronDirection": "-",
          "endIntronOffset": 762,
          "referenceAllele": "C",
          "start": 1320,
          "startIntronDirection": "-",
          "startIntronOffset": 763
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004189",
      "geneNCBI_id": 2639,
      "geneSymbol": "GCDH",
      "hgvs": [
        "XM_011527900.2:c.1244-763C="
      ],
      "proteinEffect": {
        "hgvs": "XP_011526202.1:n.1244-763C="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS548875"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1320,
          "endIntronDirection": "-",
          "endIntronOffset": 762,
          "referenceAllele": "C",
          "start": 1320,
          "startIntronDirection": "-",
          "startIntronOffset": 763
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004189",
      "geneNCBI_id": 2639,
      "geneSymbol": "GCDH",
      "hgvs": [
        "XM_017026580.1:c.1244-763C="
      ],
      "proteinEffect": {
        "hgvs": "XP_016882069.1:n.1244-763C="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS576706"
    },
    {
      "@id": "http://reg.genome.network/allele/PA3085875529",
      "coordinates": [
        {
          "allele": "C",
          "end": 1324,
          "referenceAllele": "C",
          "start": 1323
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004189",
      "geneNCBI_id": 2639,
      "geneSymbol": "GCDH",
      "hgvs": [
        "NM_000159.4:c.1247C="
      ],
      "proteinEffect": {
        "hgvs": "NP_000150.1:p.Thr416="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS662332",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000222214.10:c.1247C="
          },
          "RefSeq": {
            "hgvs": "NM_000159.4:c.1247C="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000222214.4:p.Thr416="
          },
          "RefSeq": {
            "hgvs": "NP_000150.1:p.Thr416="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 648,
          "endIntronDirection": "-",
          "endIntronOffset": 85,
          "referenceAllele": "G",
          "start": 648,
          "startIntronDirection": "-",
          "startIntronOffset": 86
        }
      ],
      "gene": "http://reg.genome.network/gene/GN027411",
      "geneNCBI_id": 256126,
      "geneSymbol": "SYCE2",
      "hgvs": [
        "NM_001105578.2:c.613-86G="
      ],
      "proteinEffect": {
        "hgvs": "NP_001099048.1:n.613-86G="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS676653",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000293695.8:c.613-86G="
          },
          "RefSeq": {
            "hgvs": "NM_001105578.2:c.613-86G="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000293695.6:n.613-86G="
          },
          "RefSeq": {
            "hgvs": "NP_001099048.1:n.613-86G="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1320,
          "endIntronDirection": "-",
          "endIntronOffset": 228,
          "referenceAllele": "C",
          "start": 1320,
          "startIntronDirection": "-",
          "startIntronOffset": 229
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004189",
      "geneNCBI_id": 2639,
      "geneSymbol": "GCDH",
      "hgvs": [
        "NM_013976.4:c.1244-229C="
      ],
      "proteinEffect": {
        "hgvs": "NP_039663.1:n.1244-229C="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS697153"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1320,
          "endIntronDirection": "-",
          "endIntronOffset": 228,
          "referenceAllele": "C",
          "start": 1320,
          "startIntronDirection": "-",
          "startIntronOffset": 229
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004189",
      "geneNCBI_id": 2639,
      "geneSymbol": "GCDH",
      "hgvs": [
        "NM_013976.5:c.1244-229C="
      ],
      "proteinEffect": {
        "hgvs": "NP_039663.1:n.1244-229C="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS727927"
    }
  ],
  "type": "nucleotide"
}