{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA2300136",
  "communityStandardTitle": [
    "NM_000404.4(GLB1):c.31C>G (p.Leu11Val)",
    "NM_001039770.3(TMPPE):c.-445C>G"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=413623[alleleid]",
        "alleleId": 413623,
        "preferredName": "NM_000404.4(GLB1):c.31C>G (p.Leu11Val)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/425289",
        "RCV": [
          "RCV000488298",
          "RCV001335294",
          "RCV001089162",
          "RCV004541535"
        ],
        "variationId": 425289
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/3-33138547-G-C",
        "id": "3-33138547-G-C",
        "variant": "3:33138547 G / C"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr3:g.33138547G>C?assembly=hg19",
        "id": "chr3:g.33138547G>C"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr3:g.33097055G>C?assembly=hg38",
        "id": "chr3:g.33097055G>C"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/77988381",
        "rs": 77988381
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/3-33138547-G-C?dataset=gnomad_r2_1",
        "id": "3-33138547-G-C",
        "variant": "3:33138547 G / C"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/3-33097055-G-C?dataset=gnomad_r3",
        "id": "3-33097055-G-C",
        "variant": "3:33097055 G / C"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/3-33097055-G-C?dataset=gnomad_r4",
        "id": "3-33097055-G-C",
        "variant": "3:33097055 G / C"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "3",
      "coordinates": [
        {
          "allele": "C",
          "end": 33097055,
          "referenceAllele": "G",
          "start": 33097054
        }
      ],
      "hgvs": [
        "NC_000003.12:g.33097055G>C",
        "CM000665.2:g.33097055G>C"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000051"
    },
    {
      "chromosome": "3",
      "coordinates": [
        {
          "allele": "C",
          "end": 33138547,
          "referenceAllele": "G",
          "start": 33138546
        }
      ],
      "hgvs": [
        "NC_000003.11:g.33138547G>C",
        "CM000665.1:g.33138547G>C"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000027"
    },
    {
      "chromosome": "3",
      "coordinates": [
        {
          "allele": "C",
          "end": 33113551,
          "referenceAllele": "G",
          "start": 33113550
        }
      ],
      "hgvs": [
        "NC_000003.10:g.33113551G>C"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000003"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 5148,
          "referenceAllele": "C",
          "start": 5147
        }
      ],
      "hgvs": [
        "NG_009005.1:g.5148C>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001373"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 92,
          "referenceAllele": "C",
          "start": 91
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004298",
      "geneNCBI_id": 2720,
      "geneSymbol": "GLB1",
      "hgvs": [
        "ENST00000307363.10:c.31C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000306920.4:p.Leu11Val",
        "hgvsWellDefined": "ENSP00000306920.4:p.Leu11Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS745364",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000307363.10:c.31C>G"
          },
          "RefSeq": {
            "hgvs": "NM_000404.4:c.31C>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000306920.4:p.Leu11Val"
          },
          "RefSeq": {
            "hgvs": "NP_000395.3:p.Leu11Val"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 92,
          "referenceAllele": "C",
          "start": 91
        }
      ],
      "gene": "http://reg.genome.network/gene/GN033865",
      "geneNCBI_id": 643853,
      "geneSymbol": "TMPPE",
      "hgvs": [
        "ENST00000342462.5:c.-445C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000343398.4:n.-445C>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS748064",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000342462.5:c.-445C>G"
          },
          "RefSeq": {
            "hgvs": "NM_001039770.3:c.-445C>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000343398.4:n.-445C>G"
          },
          "RefSeq": {
            "hgvs": "NP_001034859.2:n.-445C>G"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 176,
          "referenceAllele": "C",
          "start": 175
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004298",
      "geneNCBI_id": 2720,
      "geneSymbol": "GLB1",
      "hgvs": [
        "ENST00000307363.9:c.31C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000306920.4:p.Leu11Val",
        "hgvsWellDefined": "ENSP00000306920.4:p.Leu11Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS255876"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 92,
          "referenceAllele": "C",
          "start": 91
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004298",
      "geneNCBI_id": 2720,
      "geneSymbol": "GLB1",
      "hgvs": [
        "ENST00000307377.12:c.31C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000305920.8:p.Leu11Val",
        "hgvsWellDefined": "ENSP00000305920.8:p.Leu11Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS255881"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 67,
          "referenceAllele": "C",
          "start": 66
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004298",
      "geneNCBI_id": 2720,
      "geneSymbol": "GLB1",
      "hgvs": [
        "ENST00000415454.1:c.31C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000411813.1:p.Leu11Val",
        "hgvsWellDefined": "ENSP00000411813.1:p.Leu11Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS283995"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 148,
          "referenceAllele": "C",
          "start": 147
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004298",
      "geneNCBI_id": 2720,
      "geneSymbol": "GLB1",
      "hgvs": [
        "ENST00000436768.1:c.31C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000387989.1:p.Leu11Val",
        "hgvsWellDefined": "ENSP00000387989.1:p.Leu11Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS294141"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 92,
          "referenceAllele": "C",
          "start": 91
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004298",
      "geneNCBI_id": 2720,
      "geneSymbol": "GLB1",
      "hgvs": [
        "ENST00000438227.1:c.31C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000401250.1:p.Leu11Val",
        "hgvsWellDefined": "ENSP00000401250.1:p.Leu11Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS294824"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 92,
          "referenceAllele": "C",
          "start": 91
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004298",
      "geneNCBI_id": 2720,
      "geneSymbol": "GLB1",
      "hgvs": [
        "ENST00000440656.1:c.-193C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000411769.1:n.-193C>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS296001"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 64,
          "referenceAllele": "C",
          "start": 63
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004298",
      "geneNCBI_id": 2720,
      "geneSymbol": "GLB1",
      "hgvs": [
        "ENST00000482097.5:n.64C>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS321877"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 92,
          "referenceAllele": "C",
          "start": 91
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004298",
      "geneNCBI_id": 2720,
      "geneSymbol": "GLB1",
      "hgvs": [
        "ENST00000485698.5:n.92C>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS324665"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 88,
          "referenceAllele": "C",
          "start": 87
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004298",
      "geneNCBI_id": 2720,
      "geneSymbol": "GLB1",
      "hgvs": [
        "ENST00000498537.5:n.88C>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS334527"
    },
    {
      "@id": "http://reg.genome.network/allele/PA645384114",
      "coordinates": [
        {
          "allele": "G",
          "end": 148,
          "referenceAllele": "C",
          "start": 147
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004298",
      "geneNCBI_id": 2720,
      "geneSymbol": "GLB1",
      "hgvs": [
        "NM_000404.2:c.31C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_000395.2:p.Leu11Val",
        "hgvsWellDefined": "NP_000395.2:p.Leu11Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006465"
    },
    {
      "@id": "http://reg.genome.network/allele/PA645384114",
      "coordinates": [
        {
          "allele": "G",
          "end": 176,
          "referenceAllele": "C",
          "start": 175
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004298",
      "geneNCBI_id": 2720,
      "geneSymbol": "GLB1",
      "hgvs": [
        "NM_000404.3:c.31C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_000395.2:p.Leu11Val",
        "hgvsWellDefined": "NP_000395.2:p.Leu11Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006466"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 148,
          "referenceAllele": "C",
          "start": 147
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004298",
      "geneNCBI_id": 2720,
      "geneSymbol": "GLB1",
      "hgvs": [
        "NM_001135602.1:c.31C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001129074.1:p.Leu11Val",
        "hgvsWellDefined": "NP_001129074.1:p.Leu11Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS012431"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 176,
          "referenceAllele": "C",
          "start": 175
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004298",
      "geneNCBI_id": 2720,
      "geneSymbol": "GLB1",
      "hgvs": [
        "NM_001135602.2:c.31C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001129074.1:p.Leu11Val",
        "hgvsWellDefined": "NP_001129074.1:p.Leu11Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS012432"
    },
    {
      "@id": "http://reg.genome.network/allele/PA916021856",
      "coordinates": [
        {
          "allele": "G",
          "end": 176,
          "referenceAllele": "C",
          "start": 175
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004298",
      "geneNCBI_id": 2720,
      "geneSymbol": "GLB1",
      "hgvs": [
        "NM_001317040.1:c.31C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001303969.1:p.Leu11Val",
        "hgvsWellDefined": "NP_001303969.1:p.Leu11Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS026699"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825162049",
      "coordinates": [
        {
          "allele": "G",
          "end": 92,
          "referenceAllele": "C",
          "start": 91
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004298",
      "geneNCBI_id": 2720,
      "geneSymbol": "GLB1",
      "hgvs": [
        "NM_000404.4:c.31C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_000395.3:p.Leu11Val",
        "hgvsWellDefined": "NP_000395.3:p.Leu11Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS662429",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000307363.10:c.31C>G"
          },
          "RefSeq": {
            "hgvs": "NM_000404.4:c.31C>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000306920.4:p.Leu11Val"
          },
          "RefSeq": {
            "hgvs": "NP_000395.3:p.Leu11Val"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 92,
          "referenceAllele": "C",
          "start": 91
        }
      ],
      "gene": "http://reg.genome.network/gene/GN033865",
      "geneNCBI_id": 643853,
      "geneSymbol": "TMPPE",
      "hgvs": [
        "NM_001039770.3:c.-445C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001034859.2:n.-445C>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS663126",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000342462.5:c.-445C>G"
          },
          "RefSeq": {
            "hgvs": "NM_001039770.3:c.-445C>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000343398.4:n.-445C>G"
          },
          "RefSeq": {
            "hgvs": "NP_001034859.2:n.-445C>G"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 92,
          "referenceAllele": "C",
          "start": 91
        }
      ],
      "gene": "http://reg.genome.network/gene/GN033865",
      "geneNCBI_id": 643853,
      "geneSymbol": "TMPPE",
      "hgvs": [
        "NM_001136238.2:c.-341C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001129710.1:n.-341C>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS677424"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825793799",
      "coordinates": [
        {
          "allele": "G",
          "end": 92,
          "referenceAllele": "C",
          "start": 91
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004298",
      "geneNCBI_id": 2720,
      "geneSymbol": "GLB1",
      "hgvs": [
        "NM_001135602.3:c.31C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001129074.2:p.Leu11Val",
        "hgvsWellDefined": "NP_001129074.2:p.Leu11Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS712445"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826964388",
      "coordinates": [
        {
          "allele": "G",
          "end": 92,
          "referenceAllele": "C",
          "start": 91
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004298",
      "geneNCBI_id": 2720,
      "geneSymbol": "GLB1",
      "hgvs": [
        "NM_001317040.2:c.31C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001303969.2:p.Leu11Val",
        "hgvsWellDefined": "NP_001303969.2:p.Leu11Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS717394"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2573080296",
      "coordinates": [
        {
          "allele": "G",
          "end": 92,
          "referenceAllele": "C",
          "start": 91
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004298",
      "geneNCBI_id": 2720,
      "geneSymbol": "GLB1",
      "hgvs": [
        "NM_001393580.1:c.31C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001380509.1:p.Leu11Val",
        "hgvsWellDefined": "NP_001380509.1:p.Leu11Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS726736"
    }
  ],
  "type": "nucleotide"
}