{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA1355998416",
  "communityStandardTitle": [
    "NM_000404.4(GLB1):c.1051C= (p.Arg351=)"
  ],
  "externalRecords": {
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/72555372",
        "rs": 72555372
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "3",
      "coordinates": [
        {
          "allele": "G",
          "end": 33046137,
          "referenceAllele": "G",
          "start": 33046136
        }
      ],
      "hgvs": [
        "NC_000003.12:g.33046137G=",
        "CM000665.2:g.33046137G="
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000051"
    },
    {
      "chromosome": "3",
      "coordinates": [
        {
          "allele": "G",
          "end": 33087629,
          "referenceAllele": "G",
          "start": 33087628
        }
      ],
      "hgvs": [
        "NC_000003.11:g.33087629G=",
        "CM000665.1:g.33087629G="
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000027"
    },
    {
      "chromosome": "3",
      "coordinates": [
        {
          "allele": "G",
          "end": 33062633,
          "referenceAllele": "G",
          "start": 33062632
        }
      ],
      "hgvs": [
        "NC_000003.10:g.33062633G="
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000003"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 56066,
          "referenceAllele": "C",
          "start": 56065
        }
      ],
      "hgvs": [
        "NG_009005.1:g.56066C="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001373"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1112,
          "referenceAllele": "C",
          "start": 1111
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004298",
      "geneNCBI_id": 2720,
      "geneSymbol": "GLB1",
      "hgvs": [
        "ENST00000307363.10:c.1051C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000306920.4:p.Arg351="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS745364",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000307363.10:c.1051C="
          },
          "RefSeq": {
            "hgvs": "NM_000404.4:c.1051C="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000306920.4:p.Arg351="
          },
          "RefSeq": {
            "hgvs": "NP_000395.3:p.Arg351="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1196,
          "referenceAllele": "C",
          "start": 1195
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004298",
      "geneNCBI_id": 2720,
      "geneSymbol": "GLB1",
      "hgvs": [
        "ENST00000307363.9:c.1051C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000306920.4:p.Arg351="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS255876"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 719,
          "referenceAllele": "C",
          "start": 718
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004298",
      "geneNCBI_id": 2720,
      "geneSymbol": "GLB1",
      "hgvs": [
        "ENST00000307377.12:c.658C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000305920.8:p.Arg220="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS255881"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1093,
          "referenceAllele": "C",
          "start": 1092
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004298",
      "geneNCBI_id": 2720,
      "geneSymbol": "GLB1",
      "hgvs": [
        "ENST00000399402.7:c.961C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000382333.2:p.Arg321="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS278664"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 426,
          "referenceAllele": "C",
          "start": 425
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004298",
      "geneNCBI_id": 2720,
      "geneSymbol": "GLB1",
      "hgvs": [
        "ENST00000482097.5:n.426C="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS321877"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 454,
          "referenceAllele": "C",
          "start": 453
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004298",
      "geneNCBI_id": 2720,
      "geneSymbol": "GLB1",
      "hgvs": [
        "ENST00000485698.5:n.454C="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS324665"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 56,
          "referenceAllele": "C",
          "start": 55
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004298",
      "geneNCBI_id": 2720,
      "geneSymbol": "GLB1",
      "hgvs": [
        "ENST00000490658.2:n.56C="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS328422"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1168,
          "referenceAllele": "C",
          "start": 1167
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004298",
      "geneNCBI_id": 2720,
      "geneSymbol": "GLB1",
      "hgvs": [
        "NM_000404.2:c.1051C="
      ],
      "proteinEffect": {
        "hgvs": "NP_000395.2:p.Arg351="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006465"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1196,
          "referenceAllele": "C",
          "start": 1195
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004298",
      "geneNCBI_id": 2720,
      "geneSymbol": "GLB1",
      "hgvs": [
        "NM_000404.3:c.1051C="
      ],
      "proteinEffect": {
        "hgvs": "NP_000395.2:p.Arg351="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006466"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1080,
          "referenceAllele": "C",
          "start": 1079
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004298",
      "geneNCBI_id": 2720,
      "geneSymbol": "GLB1",
      "hgvs": [
        "NM_001079811.1:c.961C="
      ],
      "proteinEffect": {
        "hgvs": "NP_001073279.1:p.Arg321="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS010094"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1090,
          "referenceAllele": "C",
          "start": 1089
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004298",
      "geneNCBI_id": 2720,
      "geneSymbol": "GLB1",
      "hgvs": [
        "NM_001079811.2:c.961C="
      ],
      "proteinEffect": {
        "hgvs": "NP_001073279.1:p.Arg321="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS010095"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 775,
          "referenceAllele": "C",
          "start": 774
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004298",
      "geneNCBI_id": 2720,
      "geneSymbol": "GLB1",
      "hgvs": [
        "NM_001135602.1:c.658C="
      ],
      "proteinEffect": {
        "hgvs": "NP_001129074.1:p.Arg220="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS012431"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 803,
          "referenceAllele": "C",
          "start": 802
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004298",
      "geneNCBI_id": 2720,
      "geneSymbol": "GLB1",
      "hgvs": [
        "NM_001135602.2:c.658C="
      ],
      "proteinEffect": {
        "hgvs": "NP_001129074.1:p.Arg220="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS012432"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1340,
          "referenceAllele": "C",
          "start": 1339
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004298",
      "geneNCBI_id": 2720,
      "geneSymbol": "GLB1",
      "hgvs": [
        "NM_001317040.1:c.1195C="
      ],
      "proteinEffect": {
        "hgvs": "NP_001303969.1:p.Arg399="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS026699"
    },
    {
      "@id": "http://reg.genome.network/allele/PA3068379711",
      "coordinates": [
        {
          "allele": "C",
          "end": 1112,
          "referenceAllele": "C",
          "start": 1111
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004298",
      "geneNCBI_id": 2720,
      "geneSymbol": "GLB1",
      "hgvs": [
        "NM_000404.4:c.1051C="
      ],
      "proteinEffect": {
        "hgvs": "NP_000395.3:p.Arg351="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS662429",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000307363.10:c.1051C="
          },
          "RefSeq": {
            "hgvs": "NM_000404.4:c.1051C="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000306920.4:p.Arg351="
          },
          "RefSeq": {
            "hgvs": "NP_000395.3:p.Arg351="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1080,
          "referenceAllele": "C",
          "start": 1079
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004298",
      "geneNCBI_id": 2720,
      "geneSymbol": "GLB1",
      "hgvs": [
        "NM_001079811.3:c.961C="
      ],
      "proteinEffect": {
        "hgvs": "NP_001073279.2:p.Arg321="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS711783"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 719,
          "referenceAllele": "C",
          "start": 718
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004298",
      "geneNCBI_id": 2720,
      "geneSymbol": "GLB1",
      "hgvs": [
        "NM_001135602.3:c.658C="
      ],
      "proteinEffect": {
        "hgvs": "NP_001129074.2:p.Arg220="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS712445"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1256,
          "referenceAllele": "C",
          "start": 1255
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004298",
      "geneNCBI_id": 2720,
      "geneSymbol": "GLB1",
      "hgvs": [
        "NM_001317040.2:c.1195C="
      ],
      "proteinEffect": {
        "hgvs": "NP_001303969.2:p.Arg399="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS717394"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1112,
          "referenceAllele": "C",
          "start": 1111
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004298",
      "geneNCBI_id": 2720,
      "geneSymbol": "GLB1",
      "hgvs": [
        "NM_001393580.1:c.1051C="
      ],
      "proteinEffect": {
        "hgvs": "NP_001380509.1:p.Arg351="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS726736"
    }
  ],
  "type": "nucleotide"
}