{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA16604872",
  "communityStandardTitle": [
    "NM_000404.4(GLB1):c.1696C>T (p.Pro566Ser)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=368395[alleleid]",
        "alleleId": 368395,
        "preferredName": "NM_000404.4(GLB1):c.1696C>T (p.Pro566Ser)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/393276",
        "RCV": [
          "RCV000422841"
        ],
        "variationId": 393276
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr3:g.33055586G>A?assembly=hg19",
        "id": "chr3:g.33055586G>A"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr3:g.33014094G>A?assembly=hg38",
        "id": "chr3:g.33014094G>A"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/1057524868",
        "rs": 1057524868
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "3",
      "coordinates": [
        {
          "allele": "A",
          "end": 33014094,
          "referenceAllele": "G",
          "start": 33014093
        }
      ],
      "hgvs": [
        "NC_000003.12:g.33014094G>A",
        "CM000665.2:g.33014094G>A"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000051"
    },
    {
      "chromosome": "3",
      "coordinates": [
        {
          "allele": "A",
          "end": 33055586,
          "referenceAllele": "G",
          "start": 33055585
        }
      ],
      "hgvs": [
        "NC_000003.11:g.33055586G>A",
        "CM000665.1:g.33055586G>A"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000027"
    },
    {
      "chromosome": "3",
      "coordinates": [
        {
          "allele": "A",
          "end": 33030590,
          "referenceAllele": "G",
          "start": 33030589
        }
      ],
      "hgvs": [
        "NC_000003.10:g.33030590G>A"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000003"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 88109,
          "referenceAllele": "C",
          "start": 88108
        }
      ],
      "hgvs": [
        "NG_009005.1:g.88109C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001373"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1757,
          "referenceAllele": "C",
          "start": 1756
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004298",
      "geneNCBI_id": 2720,
      "geneSymbol": "GLB1",
      "hgvs": [
        "ENST00000307363.10:c.1696C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000306920.4:p.Pro566Ser",
        "hgvsWellDefined": "ENSP00000306920.4:p.Pro566Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS745364",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000307363.10:c.1696C>T"
          },
          "RefSeq": {
            "hgvs": "NM_000404.4:c.1696C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000306920.4:p.Pro566Ser"
          },
          "RefSeq": {
            "hgvs": "NP_000395.3:p.Pro566Ser"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1841,
          "referenceAllele": "C",
          "start": 1840
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004298",
      "geneNCBI_id": 2720,
      "geneSymbol": "GLB1",
      "hgvs": [
        "ENST00000307363.9:c.1696C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000306920.4:p.Pro566Ser",
        "hgvsWellDefined": "ENSP00000306920.4:p.Pro566Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS255876"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1364,
          "referenceAllele": "C",
          "start": 1363
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004298",
      "geneNCBI_id": 2720,
      "geneSymbol": "GLB1",
      "hgvs": [
        "ENST00000307377.12:c.1303C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000305920.8:p.Pro435Ser",
        "hgvsWellDefined": "ENSP00000305920.8:p.Pro435Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS255881"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1738,
          "referenceAllele": "C",
          "start": 1737
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004298",
      "geneNCBI_id": 2720,
      "geneSymbol": "GLB1",
      "hgvs": [
        "ENST00000399402.7:c.1606C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000382333.2:p.Pro536Ser",
        "hgvsWellDefined": "ENSP00000382333.2:p.Pro536Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS278664"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 795,
          "referenceAllele": "C",
          "start": 794
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004298",
      "geneNCBI_id": 2720,
      "geneSymbol": "GLB1",
      "hgvs": [
        "ENST00000461475.5:n.795C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS305976"
    },
    {
      "@id": "http://reg.genome.network/allele/PA645384417",
      "coordinates": [
        {
          "allele": "T",
          "end": 1813,
          "referenceAllele": "C",
          "start": 1812
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004298",
      "geneNCBI_id": 2720,
      "geneSymbol": "GLB1",
      "hgvs": [
        "NM_000404.2:c.1696C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_000395.2:p.Pro566Ser",
        "hgvsWellDefined": "NP_000395.2:p.Pro566Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006465"
    },
    {
      "@id": "http://reg.genome.network/allele/PA645384417",
      "coordinates": [
        {
          "allele": "T",
          "end": 1841,
          "referenceAllele": "C",
          "start": 1840
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004298",
      "geneNCBI_id": 2720,
      "geneSymbol": "GLB1",
      "hgvs": [
        "NM_000404.3:c.1696C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_000395.2:p.Pro566Ser",
        "hgvsWellDefined": "NP_000395.2:p.Pro566Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006466"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1725,
          "referenceAllele": "C",
          "start": 1724
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004298",
      "geneNCBI_id": 2720,
      "geneSymbol": "GLB1",
      "hgvs": [
        "NM_001079811.1:c.1606C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001073279.1:p.Pro536Ser",
        "hgvsWellDefined": "NP_001073279.1:p.Pro536Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS010094"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1735,
          "referenceAllele": "C",
          "start": 1734
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004298",
      "geneNCBI_id": 2720,
      "geneSymbol": "GLB1",
      "hgvs": [
        "NM_001079811.2:c.1606C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001073279.1:p.Pro536Ser",
        "hgvsWellDefined": "NP_001073279.1:p.Pro536Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS010095"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1420,
          "referenceAllele": "C",
          "start": 1419
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004298",
      "geneNCBI_id": 2720,
      "geneSymbol": "GLB1",
      "hgvs": [
        "NM_001135602.1:c.1303C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001129074.1:p.Pro435Ser",
        "hgvsWellDefined": "NP_001129074.1:p.Pro435Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS012431"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1448,
          "referenceAllele": "C",
          "start": 1447
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004298",
      "geneNCBI_id": 2720,
      "geneSymbol": "GLB1",
      "hgvs": [
        "NM_001135602.2:c.1303C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001129074.1:p.Pro435Ser",
        "hgvsWellDefined": "NP_001129074.1:p.Pro435Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS012432"
    },
    {
      "@id": "http://reg.genome.network/allele/PA916021933",
      "coordinates": [
        {
          "allele": "T",
          "end": 1985,
          "referenceAllele": "C",
          "start": 1984
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004298",
      "geneNCBI_id": 2720,
      "geneSymbol": "GLB1",
      "hgvs": [
        "NM_001317040.1:c.1840C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001303969.1:p.Pro614Ser",
        "hgvsWellDefined": "NP_001303969.1:p.Pro614Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS026699"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825162999",
      "coordinates": [
        {
          "allele": "T",
          "end": 1757,
          "referenceAllele": "C",
          "start": 1756
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004298",
      "geneNCBI_id": 2720,
      "geneSymbol": "GLB1",
      "hgvs": [
        "NM_000404.4:c.1696C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_000395.3:p.Pro566Ser",
        "hgvsWellDefined": "NP_000395.3:p.Pro566Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS662429",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000307363.10:c.1696C>T"
          },
          "RefSeq": {
            "hgvs": "NM_000404.4:c.1696C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000306920.4:p.Pro566Ser"
          },
          "RefSeq": {
            "hgvs": "NP_000395.3:p.Pro566Ser"
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825445401",
      "coordinates": [
        {
          "allele": "T",
          "end": 1725,
          "referenceAllele": "C",
          "start": 1724
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004298",
      "geneNCBI_id": 2720,
      "geneSymbol": "GLB1",
      "hgvs": [
        "NM_001079811.3:c.1606C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001073279.2:p.Pro536Ser",
        "hgvsWellDefined": "NP_001073279.2:p.Pro536Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS711783"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825794664",
      "coordinates": [
        {
          "allele": "T",
          "end": 1364,
          "referenceAllele": "C",
          "start": 1363
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004298",
      "geneNCBI_id": 2720,
      "geneSymbol": "GLB1",
      "hgvs": [
        "NM_001135602.3:c.1303C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001129074.2:p.Pro435Ser",
        "hgvsWellDefined": "NP_001129074.2:p.Pro435Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS712445"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2573070184",
      "coordinates": [
        {
          "allele": "T",
          "end": 1901,
          "referenceAllele": "C",
          "start": 1900
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004298",
      "geneNCBI_id": 2720,
      "geneSymbol": "GLB1",
      "hgvs": [
        "NM_001317040.2:c.1840C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001303969.2:p.Pro614Ser",
        "hgvsWellDefined": "NP_001303969.2:p.Pro614Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS717394"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829206209",
      "coordinates": [
        {
          "allele": "T",
          "end": 1757,
          "referenceAllele": "C",
          "start": 1756
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004298",
      "geneNCBI_id": 2720,
      "geneSymbol": "GLB1",
      "hgvs": [
        "NM_001393580.1:c.1696C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001380509.1:p.Pro566Ser",
        "hgvsWellDefined": "NP_001380509.1:p.Pro566Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS726736"
    }
  ],
  "type": "nucleotide"
}