{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA2336431246",
  "communityStandardTitle": [
    "NM_030578.4(B9D2):c.-5+107G="
  ],
  "externalRecords": {
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/2241712",
        "rs": 2241712
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "19",
      "coordinates": [
        {
          "allele": "C",
          "end": 41363851,
          "referenceAllele": "C",
          "start": 41363850
        }
      ],
      "hgvs": [
        "NC_000019.10:g.41363851C=",
        "CM000681.2:g.41363851C="
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000067"
    },
    {
      "chromosome": "19",
      "coordinates": [
        {
          "allele": "C",
          "end": 41869756,
          "referenceAllele": "C",
          "start": 41869755
        }
      ],
      "hgvs": [
        "NC_000019.9:g.41869756C=",
        "CM000681.1:g.41869756C="
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000043"
    },
    {
      "chromosome": "19",
      "coordinates": [
        {
          "allele": "C",
          "end": 46561596,
          "referenceAllele": "C",
          "start": 46561595
        }
      ],
      "hgvs": [
        "NC_000019.8:g.46561596C="
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000019"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 5323,
          "referenceAllele": "G",
          "start": 5322
        }
      ],
      "hgvs": [
        "NG_013091.1:g.5323G="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS002714"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 192,
          "endIntronDirection": "+",
          "endIntronOffset": 107,
          "referenceAllele": "G",
          "start": 192,
          "startIntronDirection": "+",
          "startIntronOffset": 106
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028636",
      "geneNCBI_id": 80776,
      "geneSymbol": "B9D2",
      "hgvs": [
        "ENST00000243578.8:c.-5+107G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000243578.2:n.-5+107G="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS741182",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000243578.8:c.-5+107G="
          },
          "RefSeq": {
            "hgvs": "NM_030578.4:c.-5+107G="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000243578.2:n.-5+107G="
          },
          "RefSeq": {
            "hgvs": "NP_085055.2:n.-5+107G="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 80,
          "referenceAllele": "G",
          "start": 79
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028636",
      "geneNCBI_id": 80776,
      "geneSymbol": "B9D2",
      "hgvs": [
        "ENST00000675972.1:c.-92G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000501911.1:n.-92G="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS775719"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 216,
          "endIntronDirection": "+",
          "endIntronOffset": 107,
          "referenceAllele": "G",
          "start": 216,
          "startIntronDirection": "+",
          "startIntronOffset": 106
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028636",
      "geneNCBI_id": 80776,
      "geneSymbol": "B9D2",
      "hgvs": [
        "ENST00000243578.7:c.-5+107G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000243578.2:n.-5+107G="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS249271"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 292,
          "endIntronDirection": "+",
          "endIntronOffset": 12649,
          "referenceAllele": "C",
          "start": 292,
          "startIntronDirection": "+",
          "startIntronOffset": 12648
        }
      ],
      "gene": "http://reg.genome.network/gene/GN032393",
      "geneNCBI_id": 641649,
      "geneSymbol": "TMEM91",
      "hgvs": [
        "ENST00000539627.5:c.-30+12649C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000441900.1:n.-30+12649C="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS361958"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 208,
          "endIntronDirection": "+",
          "endIntronOffset": 107,
          "referenceAllele": "G",
          "start": 208,
          "startIntronDirection": "+",
          "startIntronOffset": 106
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028636",
      "geneNCBI_id": 80776,
      "geneSymbol": "B9D2",
      "hgvs": [
        "ENST00000594416.1:c.-5+107G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000469666.1:n.-5+107G="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS394649"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 135,
          "endIntronDirection": "+",
          "endIntronOffset": 107,
          "referenceAllele": "G",
          "start": 135,
          "startIntronDirection": "+",
          "startIntronOffset": 106
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028636",
      "geneNCBI_id": 80776,
      "geneSymbol": "B9D2",
      "hgvs": [
        "ENST00000601597.1:n.135+107G="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS397795"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 147,
          "endIntronDirection": "+",
          "endIntronOffset": 9536,
          "referenceAllele": "C",
          "start": 147,
          "startIntronDirection": "+",
          "startIntronOffset": 9535
        }
      ],
      "gene": "http://reg.genome.network/gene/GN032393",
      "geneNCBI_id": 641649,
      "geneSymbol": "TMEM91",
      "hgvs": [
        "ENST00000604123.5:c.142+9536C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000474871.1:n.142+9536C="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS398906"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 350,
          "endIntronDirection": "+",
          "endIntronOffset": 12649,
          "referenceAllele": "C",
          "start": 350,
          "startIntronDirection": "+",
          "startIntronOffset": 12648
        }
      ],
      "hgvs": [
        "ENST00000604424.1:n.350+12649C="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS399032"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 216,
          "endIntronDirection": "+",
          "endIntronOffset": 107,
          "referenceAllele": "G",
          "start": 216,
          "startIntronDirection": "+",
          "startIntronOffset": 106
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028636",
      "geneNCBI_id": 80776,
      "geneSymbol": "B9D2",
      "hgvs": [
        "NM_030578.3:c.-5+107G="
      ],
      "proteinEffect": {
        "hgvs": "NP_085055.2:n.-5+107G="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS038330"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 583,
          "endIntronDirection": "+",
          "endIntronOffset": 107,
          "referenceAllele": "G",
          "start": 583,
          "startIntronDirection": "+",
          "startIntronOffset": 106
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028636",
      "geneNCBI_id": 80776,
      "geneSymbol": "B9D2",
      "hgvs": [
        "XM_006723405.1:c.-5+107G="
      ],
      "proteinEffect": {
        "hgvs": "XP_006723468.1:n.-5+107G="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS075038"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 56,
          "referenceAllele": "G",
          "start": 55
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028636",
      "geneNCBI_id": 80776,
      "geneSymbol": "B9D2",
      "hgvs": [
        "XM_011527349.1:c.-92G="
      ],
      "proteinEffect": {
        "hgvs": "XP_011525651.1:n.-92G="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS094443"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 583,
          "endIntronDirection": "+",
          "endIntronOffset": 107,
          "referenceAllele": "G",
          "start": 583,
          "startIntronDirection": "+",
          "startIntronOffset": 106
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028636",
      "geneNCBI_id": 80776,
      "geneSymbol": "B9D2",
      "hgvs": [
        "XM_011527350.1:c.-72+107G="
      ],
      "proteinEffect": {
        "hgvs": "XP_011525652.1:n.-72+107G="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS094444"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 80,
          "referenceAllele": "G",
          "start": 79
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028636",
      "geneNCBI_id": 80776,
      "geneSymbol": "B9D2",
      "hgvs": [
        "XM_011527349.2:c.-92G="
      ],
      "proteinEffect": {
        "hgvs": "XP_011525651.1:n.-92G="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS548633"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 577,
          "endIntronDirection": "+",
          "endIntronOffset": 107,
          "referenceAllele": "G",
          "start": 577,
          "startIntronDirection": "+",
          "startIntronOffset": 106
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028636",
      "geneNCBI_id": 80776,
      "geneSymbol": "B9D2",
      "hgvs": [
        "XM_011527350.2:c.-72+107G="
      ],
      "proteinEffect": {
        "hgvs": "XP_011525652.1:n.-72+107G="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS548634"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 192,
          "endIntronDirection": "+",
          "endIntronOffset": 107,
          "referenceAllele": "G",
          "start": 192,
          "startIntronDirection": "+",
          "startIntronOffset": 106
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028636",
      "geneNCBI_id": 80776,
      "geneSymbol": "B9D2",
      "hgvs": [
        "NM_030578.4:c.-5+107G="
      ],
      "proteinEffect": {
        "hgvs": "NP_085055.2:n.-5+107G="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS670967",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000243578.8:c.-5+107G="
          },
          "RefSeq": {
            "hgvs": "NM_030578.4:c.-5+107G="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000243578.2:n.-5+107G="
          },
          "RefSeq": {
            "hgvs": "NP_085055.2:n.-5+107G="
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}