{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA1356009020",
  "communityStandardTitle": [
    "NM_000404.4(GLB1):c.396+2T="
  ],
  "externalRecords": {
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/1057517738",
        "rs": 1057517738
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "3",
      "coordinates": [
        {
          "allele": "A",
          "end": 33068818,
          "referenceAllele": "A",
          "start": 33068817
        }
      ],
      "hgvs": [
        "NC_000003.12:g.33068818A=",
        "CM000665.2:g.33068818A="
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000051"
    },
    {
      "chromosome": "3",
      "coordinates": [
        {
          "allele": "A",
          "end": 33110310,
          "referenceAllele": "A",
          "start": 33110309
        }
      ],
      "hgvs": [
        "NC_000003.11:g.33110310A=",
        "CM000665.1:g.33110310A="
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000027"
    },
    {
      "chromosome": "3",
      "coordinates": [
        {
          "allele": "A",
          "end": 33085314,
          "referenceAllele": "A",
          "start": 33085313
        }
      ],
      "hgvs": [
        "NC_000003.10:g.33085314A="
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000003"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 33385,
          "referenceAllele": "T",
          "start": 33384
        }
      ],
      "hgvs": [
        "NG_009005.1:g.33385T="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001373"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 457,
          "endIntronDirection": "+",
          "endIntronOffset": 2,
          "referenceAllele": "T",
          "start": 457,
          "startIntronDirection": "+",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004298",
      "geneNCBI_id": 2720,
      "geneSymbol": "GLB1",
      "hgvs": [
        "ENST00000307363.10:c.396+2T="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000306920.4:n.396+2T="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS745364",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000307363.10:c.396+2T="
          },
          "RefSeq": {
            "hgvs": "NM_000404.4:c.396+2T="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000306920.4:n.396+2T="
          },
          "RefSeq": {
            "hgvs": "NP_000395.3:n.396+2T="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 541,
          "endIntronDirection": "+",
          "endIntronOffset": 2,
          "referenceAllele": "T",
          "start": 541,
          "startIntronDirection": "+",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004298",
      "geneNCBI_id": 2720,
      "geneSymbol": "GLB1",
      "hgvs": [
        "ENST00000307363.9:c.396+2T="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000306920.4:n.396+2T="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS255876"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 306,
          "endIntronDirection": "-",
          "endIntronOffset": 3260,
          "referenceAllele": "T",
          "start": 306,
          "startIntronDirection": "-",
          "startIntronOffset": 3261
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004298",
      "geneNCBI_id": 2720,
      "geneSymbol": "GLB1",
      "hgvs": [
        "ENST00000307377.12:c.246-3261T="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000305920.8:n.246-3261T="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS255881"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 438,
          "endIntronDirection": "+",
          "endIntronOffset": 2,
          "referenceAllele": "T",
          "start": 438,
          "startIntronDirection": "+",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004298",
      "geneNCBI_id": 2720,
      "geneSymbol": "GLB1",
      "hgvs": [
        "ENST00000399402.7:c.306+2T="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000382333.2:n.306+2T="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS278664"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 111,
          "endIntronDirection": "-",
          "endIntronOffset": 10548,
          "referenceAllele": "T",
          "start": 111,
          "startIntronDirection": "-",
          "startIntronOffset": 10549
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004298",
      "geneNCBI_id": 2720,
      "geneSymbol": "GLB1",
      "hgvs": [
        "ENST00000415454.1:c.76-10549T="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000411813.1:n.76-10549T="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS283995"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 136,
          "endIntronDirection": "-",
          "endIntronOffset": 3260,
          "referenceAllele": "T",
          "start": 136,
          "startIntronDirection": "-",
          "startIntronOffset": 3261
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004298",
      "geneNCBI_id": 2720,
      "geneSymbol": "GLB1",
      "hgvs": [
        "ENST00000438227.1:c.76-3261T="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000401250.1:n.76-3261T="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS294824"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 287,
          "endIntronDirection": "+",
          "endIntronOffset": 2,
          "referenceAllele": "T",
          "start": 287,
          "startIntronDirection": "+",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004298",
      "geneNCBI_id": 2720,
      "geneSymbol": "GLB1",
      "hgvs": [
        "ENST00000440656.1:c.3+2T="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000411769.1:n.3+2T="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS296001"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 172,
          "endIntronDirection": "-",
          "endIntronOffset": 3260,
          "referenceAllele": "T",
          "start": 172,
          "startIntronDirection": "-",
          "startIntronOffset": 3261
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004298",
      "geneNCBI_id": 2720,
      "geneSymbol": "GLB1",
      "hgvs": [
        "ENST00000446732.5:c.156-3261T="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000407365.1:n.156-3261T="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS298869"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 354,
          "endIntronDirection": "+",
          "endIntronOffset": 2,
          "referenceAllele": "T",
          "start": 354,
          "startIntronDirection": "+",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004298",
      "geneNCBI_id": 2720,
      "geneSymbol": "GLB1",
      "hgvs": [
        "ENST00000464355.1:n.354+2T="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS308208"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 108,
          "endIntronDirection": "-",
          "endIntronOffset": 15268,
          "referenceAllele": "T",
          "start": 108,
          "startIntronDirection": "-",
          "startIntronOffset": 15269
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004298",
      "geneNCBI_id": 2720,
      "geneSymbol": "GLB1",
      "hgvs": [
        "ENST00000482097.5:n.109-15269T="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS321877"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 136,
          "endIntronDirection": "-",
          "endIntronOffset": 15268,
          "referenceAllele": "T",
          "start": 136,
          "startIntronDirection": "-",
          "startIntronOffset": 15269
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004298",
      "geneNCBI_id": 2720,
      "geneSymbol": "GLB1",
      "hgvs": [
        "ENST00000485698.5:n.137-15269T="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS324665"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 132,
          "endIntronDirection": "-",
          "endIntronOffset": 15268,
          "referenceAllele": "T",
          "start": 132,
          "startIntronDirection": "-",
          "startIntronOffset": 15269
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004298",
      "geneNCBI_id": 2720,
      "geneSymbol": "GLB1",
      "hgvs": [
        "ENST00000498537.5:n.133-15269T="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS334527"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 513,
          "endIntronDirection": "+",
          "endIntronOffset": 2,
          "referenceAllele": "T",
          "start": 513,
          "startIntronDirection": "+",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004298",
      "geneNCBI_id": 2720,
      "geneSymbol": "GLB1",
      "hgvs": [
        "NM_000404.2:c.396+2T="
      ],
      "proteinEffect": {
        "hgvs": "NP_000395.2:n.396+2T="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006465"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 541,
          "endIntronDirection": "+",
          "endIntronOffset": 2,
          "referenceAllele": "T",
          "start": 541,
          "startIntronDirection": "+",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004298",
      "geneNCBI_id": 2720,
      "geneSymbol": "GLB1",
      "hgvs": [
        "NM_000404.3:c.396+2T="
      ],
      "proteinEffect": {
        "hgvs": "NP_000395.2:n.396+2T="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006466"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 425,
          "endIntronDirection": "+",
          "endIntronOffset": 2,
          "referenceAllele": "T",
          "start": 425,
          "startIntronDirection": "+",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004298",
      "geneNCBI_id": 2720,
      "geneSymbol": "GLB1",
      "hgvs": [
        "NM_001079811.1:c.306+2T="
      ],
      "proteinEffect": {
        "hgvs": "NP_001073279.1:n.306+2T="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS010094"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 435,
          "endIntronDirection": "+",
          "endIntronOffset": 2,
          "referenceAllele": "T",
          "start": 435,
          "startIntronDirection": "+",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004298",
      "geneNCBI_id": 2720,
      "geneSymbol": "GLB1",
      "hgvs": [
        "NM_001079811.2:c.306+2T="
      ],
      "proteinEffect": {
        "hgvs": "NP_001073279.1:n.306+2T="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS010095"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 362,
          "endIntronDirection": "-",
          "endIntronOffset": 3260,
          "referenceAllele": "T",
          "start": 362,
          "startIntronDirection": "-",
          "startIntronOffset": 3261
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004298",
      "geneNCBI_id": 2720,
      "geneSymbol": "GLB1",
      "hgvs": [
        "NM_001135602.1:c.246-3261T="
      ],
      "proteinEffect": {
        "hgvs": "NP_001129074.1:n.246-3261T="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS012431"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 390,
          "endIntronDirection": "-",
          "endIntronOffset": 3260,
          "referenceAllele": "T",
          "start": 390,
          "startIntronDirection": "-",
          "startIntronOffset": 3261
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004298",
      "geneNCBI_id": 2720,
      "geneSymbol": "GLB1",
      "hgvs": [
        "NM_001135602.2:c.246-3261T="
      ],
      "proteinEffect": {
        "hgvs": "NP_001129074.1:n.246-3261T="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS012432"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 685,
          "endIntronDirection": "+",
          "endIntronOffset": 2,
          "referenceAllele": "T",
          "start": 685,
          "startIntronDirection": "+",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004298",
      "geneNCBI_id": 2720,
      "geneSymbol": "GLB1",
      "hgvs": [
        "NM_001317040.1:c.540+2T="
      ],
      "proteinEffect": {
        "hgvs": "NP_001303969.1:n.540+2T="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS026699"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 457,
          "endIntronDirection": "+",
          "endIntronOffset": 2,
          "referenceAllele": "T",
          "start": 457,
          "startIntronDirection": "+",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004298",
      "geneNCBI_id": 2720,
      "geneSymbol": "GLB1",
      "hgvs": [
        "NM_000404.4:c.396+2T="
      ],
      "proteinEffect": {
        "hgvs": "NP_000395.3:n.396+2T="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS662429",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000307363.10:c.396+2T="
          },
          "RefSeq": {
            "hgvs": "NM_000404.4:c.396+2T="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000306920.4:n.396+2T="
          },
          "RefSeq": {
            "hgvs": "NP_000395.3:n.396+2T="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 425,
          "endIntronDirection": "+",
          "endIntronOffset": 2,
          "referenceAllele": "T",
          "start": 425,
          "startIntronDirection": "+",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004298",
      "geneNCBI_id": 2720,
      "geneSymbol": "GLB1",
      "hgvs": [
        "NM_001079811.3:c.306+2T="
      ],
      "proteinEffect": {
        "hgvs": "NP_001073279.2:n.306+2T="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS711783"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 306,
          "endIntronDirection": "-",
          "endIntronOffset": 3260,
          "referenceAllele": "T",
          "start": 306,
          "startIntronDirection": "-",
          "startIntronOffset": 3261
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004298",
      "geneNCBI_id": 2720,
      "geneSymbol": "GLB1",
      "hgvs": [
        "NM_001135602.3:c.246-3261T="
      ],
      "proteinEffect": {
        "hgvs": "NP_001129074.2:n.246-3261T="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS712445"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 601,
          "endIntronDirection": "+",
          "endIntronOffset": 2,
          "referenceAllele": "T",
          "start": 601,
          "startIntronDirection": "+",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004298",
      "geneNCBI_id": 2720,
      "geneSymbol": "GLB1",
      "hgvs": [
        "NM_001317040.2:c.540+2T="
      ],
      "proteinEffect": {
        "hgvs": "NP_001303969.2:n.540+2T="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS717394"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 457,
          "endIntronDirection": "+",
          "endIntronOffset": 2,
          "referenceAllele": "T",
          "start": 457,
          "startIntronDirection": "+",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004298",
      "geneNCBI_id": 2720,
      "geneSymbol": "GLB1",
      "hgvs": [
        "NM_001393580.1:c.396+2T="
      ],
      "proteinEffect": {
        "hgvs": "NP_001380509.1:n.396+2T="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS726736"
    }
  ],
  "type": "nucleotide"
}