{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA220721",
  "communityStandardTitle": [
    "NM_000404.4(GLB1):c.481T>G (p.Trp161Gly)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=98817[alleleid]",
        "alleleId": 98817,
        "preferredName": "NM_000404.4(GLB1):c.481T>G (p.Trp161Gly)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/92910",
        "RCV": [
          "RCV000078717",
          "RCV000673411",
          "RCV001175293",
          "RCV001378119"
        ],
        "variationId": 92910
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr3:g.33107026A>C?assembly=hg19",
        "id": "chr3:g.33107026A>C"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr3:g.33065534A>C?assembly=hg38",
        "id": "chr3:g.33065534A>C"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/398123355",
        "rs": 398123355
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/3-33107026-A-C?dataset=gnomad_r2_1",
        "id": "3-33107026-A-C",
        "variant": "3:33107026 A / C"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/3-33065534-A-C?dataset=gnomad_r3",
        "id": "3-33065534-A-C",
        "variant": "3:33065534 A / C"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/3-33065534-A-C?dataset=gnomad_r4",
        "id": "3-33065534-A-C",
        "variant": "3:33065534 A / C"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "3",
      "coordinates": [
        {
          "allele": "C",
          "end": 33065534,
          "referenceAllele": "A",
          "start": 33065533
        }
      ],
      "hgvs": [
        "NC_000003.12:g.33065534A>C",
        "CM000665.2:g.33065534A>C"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000051"
    },
    {
      "chromosome": "3",
      "coordinates": [
        {
          "allele": "C",
          "end": 33107026,
          "referenceAllele": "A",
          "start": 33107025
        }
      ],
      "hgvs": [
        "NC_000003.11:g.33107026A>C",
        "CM000665.1:g.33107026A>C"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000027"
    },
    {
      "chromosome": "3",
      "coordinates": [
        {
          "allele": "C",
          "end": 33082030,
          "referenceAllele": "A",
          "start": 33082029
        }
      ],
      "hgvs": [
        "NC_000003.10:g.33082030A>C"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000003"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 36669,
          "referenceAllele": "T",
          "start": 36668
        }
      ],
      "hgvs": [
        "NG_009005.1:g.36669T>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001373"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 542,
          "referenceAllele": "T",
          "start": 541
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004298",
      "geneNCBI_id": 2720,
      "geneSymbol": "GLB1",
      "hgvs": [
        "ENST00000307363.10:c.481T>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000306920.4:p.Trp161Gly",
        "hgvsWellDefined": "ENSP00000306920.4:p.Trp161Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS745364",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000307363.10:c.481T>G"
          },
          "RefSeq": {
            "hgvs": "NM_000404.4:c.481T>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000306920.4:p.Trp161Gly"
          },
          "RefSeq": {
            "hgvs": "NP_000395.3:p.Trp161Gly"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 626,
          "referenceAllele": "T",
          "start": 625
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004298",
      "geneNCBI_id": 2720,
      "geneSymbol": "GLB1",
      "hgvs": [
        "ENST00000307363.9:c.481T>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000306920.4:p.Trp161Gly",
        "hgvsWellDefined": "ENSP00000306920.4:p.Trp161Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS255876"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 330,
          "referenceAllele": "T",
          "start": 329
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004298",
      "geneNCBI_id": 2720,
      "geneSymbol": "GLB1",
      "hgvs": [
        "ENST00000307377.12:c.269T>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000305920.8:p.Val90Gly",
        "hgvsWellDefined": "ENSP00000305920.8:p.Val90Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS255881"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 523,
          "referenceAllele": "T",
          "start": 522
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004298",
      "geneNCBI_id": 2720,
      "geneSymbol": "GLB1",
      "hgvs": [
        "ENST00000399402.7:c.391T>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000382333.2:p.Trp131Gly",
        "hgvsWellDefined": "ENSP00000382333.2:p.Trp131Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS278664"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 111,
          "endIntronDirection": "-",
          "endIntronOffset": 7264,
          "referenceAllele": "T",
          "start": 111,
          "startIntronDirection": "-",
          "startIntronOffset": 7265
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004298",
      "geneNCBI_id": 2720,
      "geneSymbol": "GLB1",
      "hgvs": [
        "ENST00000415454.1:c.76-7265T>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000411813.1:n.76-7265T>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS283995"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 160,
          "referenceAllele": "T",
          "start": 159
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004298",
      "geneNCBI_id": 2720,
      "geneSymbol": "GLB1",
      "hgvs": [
        "ENST00000438227.1:c.99T>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000401250.1:p.Ser33Arg",
        "hgvsWellDefined": "ENSP00000401250.1:p.Ser33Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS294824"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 372,
          "referenceAllele": "T",
          "start": 371
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004298",
      "geneNCBI_id": 2720,
      "geneSymbol": "GLB1",
      "hgvs": [
        "ENST00000440656.1:c.88T>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000411769.1:p.Trp30Gly",
        "hgvsWellDefined": "ENSP00000411769.1:p.Trp30Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS296001"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 196,
          "referenceAllele": "T",
          "start": 195
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004298",
      "geneNCBI_id": 2720,
      "geneSymbol": "GLB1",
      "hgvs": [
        "ENST00000446732.5:c.179T>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000407365.1:p.Val60Gly",
        "hgvsWellDefined": "ENSP00000407365.1:p.Val60Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS298869"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 439,
          "referenceAllele": "T",
          "start": 438
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004298",
      "geneNCBI_id": 2720,
      "geneSymbol": "GLB1",
      "hgvs": [
        "ENST00000464355.1:n.439T>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS308208"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 108,
          "endIntronDirection": "-",
          "endIntronOffset": 11984,
          "referenceAllele": "T",
          "start": 108,
          "startIntronDirection": "-",
          "startIntronOffset": 11985
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004298",
      "geneNCBI_id": 2720,
      "geneSymbol": "GLB1",
      "hgvs": [
        "ENST00000482097.5:n.109-11985T>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS321877"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 136,
          "endIntronDirection": "-",
          "endIntronOffset": 11984,
          "referenceAllele": "T",
          "start": 136,
          "startIntronDirection": "-",
          "startIntronOffset": 11985
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004298",
      "geneNCBI_id": 2720,
      "geneSymbol": "GLB1",
      "hgvs": [
        "ENST00000485698.5:n.137-11985T>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS324665"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 132,
          "endIntronDirection": "-",
          "endIntronOffset": 11984,
          "referenceAllele": "T",
          "start": 132,
          "startIntronDirection": "-",
          "startIntronOffset": 11985
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004298",
      "geneNCBI_id": 2720,
      "geneSymbol": "GLB1",
      "hgvs": [
        "ENST00000498537.5:n.133-11985T>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS334527"
    },
    {
      "@id": "http://reg.genome.network/allele/PA220722",
      "coordinates": [
        {
          "allele": "G",
          "end": 598,
          "referenceAllele": "T",
          "start": 597
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004298",
      "geneNCBI_id": 2720,
      "geneSymbol": "GLB1",
      "hgvs": [
        "NM_000404.2:c.481T>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_000395.2:p.Trp161Gly",
        "hgvsWellDefined": "NP_000395.2:p.Trp161Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006465"
    },
    {
      "@id": "http://reg.genome.network/allele/PA220722",
      "coordinates": [
        {
          "allele": "G",
          "end": 626,
          "referenceAllele": "T",
          "start": 625
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004298",
      "geneNCBI_id": 2720,
      "geneSymbol": "GLB1",
      "hgvs": [
        "NM_000404.3:c.481T>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_000395.2:p.Trp161Gly",
        "hgvsWellDefined": "NP_000395.2:p.Trp161Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006466"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 510,
          "referenceAllele": "T",
          "start": 509
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004298",
      "geneNCBI_id": 2720,
      "geneSymbol": "GLB1",
      "hgvs": [
        "NM_001079811.1:c.391T>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001073279.1:p.Trp131Gly",
        "hgvsWellDefined": "NP_001073279.1:p.Trp131Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS010094"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 520,
          "referenceAllele": "T",
          "start": 519
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004298",
      "geneNCBI_id": 2720,
      "geneSymbol": "GLB1",
      "hgvs": [
        "NM_001079811.2:c.391T>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001073279.1:p.Trp131Gly",
        "hgvsWellDefined": "NP_001073279.1:p.Trp131Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS010095"
    },
    {
      "@id": "http://reg.genome.network/allele/PA915977076",
      "coordinates": [
        {
          "allele": "G",
          "end": 386,
          "referenceAllele": "T",
          "start": 385
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004298",
      "geneNCBI_id": 2720,
      "geneSymbol": "GLB1",
      "hgvs": [
        "NM_001135602.1:c.269T>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001129074.1:p.Val90Gly",
        "hgvsWellDefined": "NP_001129074.1:p.Val90Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS012431"
    },
    {
      "@id": "http://reg.genome.network/allele/PA915977076",
      "coordinates": [
        {
          "allele": "G",
          "end": 414,
          "referenceAllele": "T",
          "start": 413
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004298",
      "geneNCBI_id": 2720,
      "geneSymbol": "GLB1",
      "hgvs": [
        "NM_001135602.2:c.269T>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001129074.1:p.Val90Gly",
        "hgvsWellDefined": "NP_001129074.1:p.Val90Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS012432"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 770,
          "referenceAllele": "T",
          "start": 769
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004298",
      "geneNCBI_id": 2720,
      "geneSymbol": "GLB1",
      "hgvs": [
        "NM_001317040.1:c.625T>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001303969.1:p.Trp209Gly",
        "hgvsWellDefined": "NP_001303969.1:p.Trp209Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS026699"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825162249",
      "coordinates": [
        {
          "allele": "G",
          "end": 542,
          "referenceAllele": "T",
          "start": 541
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004298",
      "geneNCBI_id": 2720,
      "geneSymbol": "GLB1",
      "hgvs": [
        "NM_000404.4:c.481T>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_000395.3:p.Trp161Gly",
        "hgvsWellDefined": "NP_000395.3:p.Trp161Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS662429",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000307363.10:c.481T>G"
          },
          "RefSeq": {
            "hgvs": "NM_000404.4:c.481T>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000306920.4:p.Trp161Gly"
          },
          "RefSeq": {
            "hgvs": "NP_000395.3:p.Trp161Gly"
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825444555",
      "coordinates": [
        {
          "allele": "G",
          "end": 510,
          "referenceAllele": "T",
          "start": 509
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004298",
      "geneNCBI_id": 2720,
      "geneSymbol": "GLB1",
      "hgvs": [
        "NM_001079811.3:c.391T>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001073279.2:p.Trp131Gly",
        "hgvsWellDefined": "NP_001073279.2:p.Trp131Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS711783"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2573065870",
      "coordinates": [
        {
          "allele": "G",
          "end": 330,
          "referenceAllele": "T",
          "start": 329
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004298",
      "geneNCBI_id": 2720,
      "geneSymbol": "GLB1",
      "hgvs": [
        "NM_001135602.3:c.269T>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001129074.2:p.Val90Gly",
        "hgvsWellDefined": "NP_001129074.2:p.Val90Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS712445"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826964679",
      "coordinates": [
        {
          "allele": "G",
          "end": 686,
          "referenceAllele": "T",
          "start": 685
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004298",
      "geneNCBI_id": 2720,
      "geneSymbol": "GLB1",
      "hgvs": [
        "NM_001317040.2:c.625T>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001303969.2:p.Trp209Gly",
        "hgvsWellDefined": "NP_001303969.2:p.Trp209Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS717394"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829205880",
      "coordinates": [
        {
          "allele": "G",
          "end": 542,
          "referenceAllele": "T",
          "start": 541
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004298",
      "geneNCBI_id": 2720,
      "geneSymbol": "GLB1",
      "hgvs": [
        "NM_001393580.1:c.481T>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001380509.1:p.Trp161Gly",
        "hgvsWellDefined": "NP_001380509.1:p.Trp161Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS726736"
    }
  ],
  "type": "nucleotide"
}