{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA1355985396",
  "communityStandardTitle": [
    "NM_000404.4(GLB1):c.1444C= (p.Arg482=)"
  ],
  "externalRecords": {
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/72555365",
        "rs": 72555365
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "3",
      "coordinates": [
        {
          "allele": "G",
          "end": 33016744,
          "referenceAllele": "G",
          "start": 33016743
        }
      ],
      "hgvs": [
        "NC_000003.12:g.33016744G=",
        "CM000665.2:g.33016744G="
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000051"
    },
    {
      "chromosome": "3",
      "coordinates": [
        {
          "allele": "G",
          "end": 33058236,
          "referenceAllele": "G",
          "start": 33058235
        }
      ],
      "hgvs": [
        "NC_000003.11:g.33058236G=",
        "CM000665.1:g.33058236G="
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000027"
    },
    {
      "chromosome": "3",
      "coordinates": [
        {
          "allele": "G",
          "end": 33033240,
          "referenceAllele": "G",
          "start": 33033239
        }
      ],
      "hgvs": [
        "NC_000003.10:g.33033240G="
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000003"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 85459,
          "referenceAllele": "C",
          "start": 85458
        }
      ],
      "hgvs": [
        "NG_009005.1:g.85459C="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001373"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1505,
          "referenceAllele": "C",
          "start": 1504
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004298",
      "geneNCBI_id": 2720,
      "geneSymbol": "GLB1",
      "hgvs": [
        "ENST00000307363.10:c.1444C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000306920.4:p.Arg482="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS745364",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000307363.10:c.1444C="
          },
          "RefSeq": {
            "hgvs": "NM_000404.4:c.1444C="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000306920.4:p.Arg482="
          },
          "RefSeq": {
            "hgvs": "NP_000395.3:p.Arg482="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1589,
          "referenceAllele": "C",
          "start": 1588
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004298",
      "geneNCBI_id": 2720,
      "geneSymbol": "GLB1",
      "hgvs": [
        "ENST00000307363.9:c.1444C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000306920.4:p.Arg482="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS255876"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1112,
          "referenceAllele": "C",
          "start": 1111
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004298",
      "geneNCBI_id": 2720,
      "geneSymbol": "GLB1",
      "hgvs": [
        "ENST00000307377.12:c.1051C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000305920.8:p.Arg351="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS255881"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1486,
          "referenceAllele": "C",
          "start": 1485
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004298",
      "geneNCBI_id": 2720,
      "geneSymbol": "GLB1",
      "hgvs": [
        "ENST00000399402.7:c.1354C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000382333.2:p.Arg452="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS278664"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 543,
          "referenceAllele": "C",
          "start": 542
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004298",
      "geneNCBI_id": 2720,
      "geneSymbol": "GLB1",
      "hgvs": [
        "ENST00000461475.5:n.543C="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS305976"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 481,
          "referenceAllele": "C",
          "start": 480
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004298",
      "geneNCBI_id": 2720,
      "geneSymbol": "GLB1",
      "hgvs": [
        "ENST00000467571.5:n.481C="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS310678"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 696,
          "referenceAllele": "C",
          "start": 695
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004298",
      "geneNCBI_id": 2720,
      "geneSymbol": "GLB1",
      "hgvs": [
        "ENST00000497796.5:n.696C="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS333946"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1561,
          "referenceAllele": "C",
          "start": 1560
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004298",
      "geneNCBI_id": 2720,
      "geneSymbol": "GLB1",
      "hgvs": [
        "NM_000404.2:c.1444C="
      ],
      "proteinEffect": {
        "hgvs": "NP_000395.2:p.Arg482="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006465"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1589,
          "referenceAllele": "C",
          "start": 1588
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004298",
      "geneNCBI_id": 2720,
      "geneSymbol": "GLB1",
      "hgvs": [
        "NM_000404.3:c.1444C="
      ],
      "proteinEffect": {
        "hgvs": "NP_000395.2:p.Arg482="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006466"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1473,
          "referenceAllele": "C",
          "start": 1472
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004298",
      "geneNCBI_id": 2720,
      "geneSymbol": "GLB1",
      "hgvs": [
        "NM_001079811.1:c.1354C="
      ],
      "proteinEffect": {
        "hgvs": "NP_001073279.1:p.Arg452="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS010094"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1483,
          "referenceAllele": "C",
          "start": 1482
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004298",
      "geneNCBI_id": 2720,
      "geneSymbol": "GLB1",
      "hgvs": [
        "NM_001079811.2:c.1354C="
      ],
      "proteinEffect": {
        "hgvs": "NP_001073279.1:p.Arg452="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS010095"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1168,
          "referenceAllele": "C",
          "start": 1167
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004298",
      "geneNCBI_id": 2720,
      "geneSymbol": "GLB1",
      "hgvs": [
        "NM_001135602.1:c.1051C="
      ],
      "proteinEffect": {
        "hgvs": "NP_001129074.1:p.Arg351="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS012431"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1196,
          "referenceAllele": "C",
          "start": 1195
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004298",
      "geneNCBI_id": 2720,
      "geneSymbol": "GLB1",
      "hgvs": [
        "NM_001135602.2:c.1051C="
      ],
      "proteinEffect": {
        "hgvs": "NP_001129074.1:p.Arg351="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS012432"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1733,
          "referenceAllele": "C",
          "start": 1732
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004298",
      "geneNCBI_id": 2720,
      "geneSymbol": "GLB1",
      "hgvs": [
        "NM_001317040.1:c.1588C="
      ],
      "proteinEffect": {
        "hgvs": "NP_001303969.1:p.Arg530="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS026699"
    },
    {
      "@id": "http://reg.genome.network/allele/PA3068379714",
      "coordinates": [
        {
          "allele": "C",
          "end": 1505,
          "referenceAllele": "C",
          "start": 1504
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004298",
      "geneNCBI_id": 2720,
      "geneSymbol": "GLB1",
      "hgvs": [
        "NM_000404.4:c.1444C="
      ],
      "proteinEffect": {
        "hgvs": "NP_000395.3:p.Arg482="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS662429",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000307363.10:c.1444C="
          },
          "RefSeq": {
            "hgvs": "NM_000404.4:c.1444C="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000306920.4:p.Arg482="
          },
          "RefSeq": {
            "hgvs": "NP_000395.3:p.Arg482="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1473,
          "referenceAllele": "C",
          "start": 1472
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004298",
      "geneNCBI_id": 2720,
      "geneSymbol": "GLB1",
      "hgvs": [
        "NM_001079811.3:c.1354C="
      ],
      "proteinEffect": {
        "hgvs": "NP_001073279.2:p.Arg452="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS711783"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1112,
          "referenceAllele": "C",
          "start": 1111
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004298",
      "geneNCBI_id": 2720,
      "geneSymbol": "GLB1",
      "hgvs": [
        "NM_001135602.3:c.1051C="
      ],
      "proteinEffect": {
        "hgvs": "NP_001129074.2:p.Arg351="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS712445"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1649,
          "referenceAllele": "C",
          "start": 1648
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004298",
      "geneNCBI_id": 2720,
      "geneSymbol": "GLB1",
      "hgvs": [
        "NM_001317040.2:c.1588C="
      ],
      "proteinEffect": {
        "hgvs": "NP_001303969.2:p.Arg530="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS717394"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1505,
          "referenceAllele": "C",
          "start": 1504
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004298",
      "geneNCBI_id": 2720,
      "geneSymbol": "GLB1",
      "hgvs": [
        "NM_001393580.1:c.1444C="
      ],
      "proteinEffect": {
        "hgvs": "NP_001380509.1:p.Arg482="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS726736"
    }
  ],
  "type": "nucleotide"
}