{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA398248838",
  "communityStandardTitle": [
    "NM_001303.4(COX10):c.587C>T (p.Thr196Ile)"
  ],
  "externalRecords": {
    "COSMIC": [
      {
        "@id": "http://cancer.sanger.ac.uk/cosmic/mutation/overview?id=6421709",
        "active": true,
        "id": "COSM6421709"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr17:g.14005522C>T?assembly=hg19",
        "id": "chr17:g.14005522C>T"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr17:g.14102205C>T?assembly=hg38",
        "id": "chr17:g.14102205C>T"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/104894555",
        "rs": 104894555
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/17-14102205-C-T?dataset=gnomad_r4",
        "id": "17-14102205-C-T",
        "variant": "17:14102205 C / T"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "17",
      "coordinates": [
        {
          "allele": "T",
          "end": 14102205,
          "referenceAllele": "C",
          "start": 14102204
        }
      ],
      "hgvs": [
        "NC_000017.11:g.14102205C>T",
        "CM000679.2:g.14102205C>T"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000065"
    },
    {
      "chromosome": "17",
      "coordinates": [
        {
          "allele": "T",
          "end": 14005522,
          "referenceAllele": "C",
          "start": 14005521
        }
      ],
      "hgvs": [
        "NC_000017.10:g.14005522C>T",
        "CM000679.1:g.14005522C>T"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000041"
    },
    {
      "chromosome": "17",
      "coordinates": [
        {
          "allele": "T",
          "end": 13946247,
          "referenceAllele": "C",
          "start": 13946246
        }
      ],
      "hgvs": [
        "NC_000017.9:g.13946247C>T"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000017"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 37804,
          "referenceAllele": "C",
          "start": 37803
        }
      ],
      "hgvs": [
        "NG_008034.1:g.37804C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS000791"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 689,
          "referenceAllele": "C",
          "start": 688
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002260",
      "geneNCBI_id": 1352,
      "geneSymbol": "COX10",
      "hgvs": [
        "ENST00000261643.8:c.587C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000261643.3:p.Thr196Ile",
        "hgvsWellDefined": "ENSP00000261643.3:p.Thr196Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS742177",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000261643.8:c.587C>T"
          },
          "RefSeq": {
            "hgvs": "NM_001303.4:c.587C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000261643.3:p.Thr196Ile"
          },
          "RefSeq": {
            "hgvs": "NP_001294.2:p.Thr196Ile"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 703,
          "referenceAllele": "C",
          "start": 702
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002260",
      "geneNCBI_id": 1352,
      "geneSymbol": "COX10",
      "hgvs": [
        "ENST00000664217.1:c.587C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000499396.1:p.Thr196Ile",
        "hgvsWellDefined": "ENSP00000499396.1:p.Thr196Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS772848"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 703,
          "referenceAllele": "C",
          "start": 702
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002260",
      "geneNCBI_id": 1352,
      "geneSymbol": "COX10",
      "hgvs": [
        "ENST00000670279.1:c.587C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000499450.1:p.Thr196Ile",
        "hgvsWellDefined": "ENSP00000499450.1:p.Thr196Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS773094"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 664,
          "referenceAllele": "C",
          "start": 663
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002260",
      "geneNCBI_id": 1352,
      "geneSymbol": "COX10",
      "hgvs": [
        "ENST00000261643.7:c.587C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000261643.3:p.Thr196Ile",
        "hgvsWellDefined": "ENSP00000261643.3:p.Thr196Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS250799"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 267,
          "referenceAllele": "C",
          "start": 266
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002260",
      "geneNCBI_id": 1352,
      "geneSymbol": "COX10",
      "hgvs": [
        "ENST00000580561.1:c.*76C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000462190.1:n.*76C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS386387"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 501,
          "endIntronDirection": "+",
          "endIntronOffset": 25149,
          "referenceAllele": "C",
          "start": 501,
          "startIntronDirection": "+",
          "startIntronOffset": 25148
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002260",
      "geneNCBI_id": 1352,
      "geneSymbol": "COX10",
      "hgvs": [
        "ENST00000581931.5:c.499+25149C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000462512.1:n.499+25149C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS387019"
    },
    {
      "@id": "http://reg.genome.network/allele/PA3083967823",
      "coordinates": [
        {
          "allele": "T",
          "end": 791,
          "referenceAllele": "C",
          "start": 790
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002260",
      "geneNCBI_id": 1352,
      "geneSymbol": "COX10",
      "hgvs": [
        "NM_001303.3:c.587C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001294.2:p.Thr196Ile",
        "hgvsWellDefined": "NP_001294.2:p.Thr196Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS025382"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 690,
          "referenceAllele": "C",
          "start": 689
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002260",
      "geneNCBI_id": 1352,
      "geneSymbol": "COX10",
      "hgvs": [
        "XM_005256458.1:c.587C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005256515.1:p.Thr196Ile",
        "hgvsWellDefined": "XP_005256515.1:p.Thr196Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS061322"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 690,
          "referenceAllele": "C",
          "start": 689
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002260",
      "geneNCBI_id": 1352,
      "geneSymbol": "COX10",
      "hgvs": [
        "XM_011523657.1:c.587C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011521959.1:p.Thr196Ile",
        "hgvsWellDefined": "XP_011521959.1:p.Thr196Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS090790"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 602,
          "endIntronDirection": "+",
          "endIntronOffset": 25149,
          "referenceAllele": "C",
          "start": 602,
          "startIntronDirection": "+",
          "startIntronOffset": 25148
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002260",
      "geneNCBI_id": 1352,
      "geneSymbol": "COX10",
      "hgvs": [
        "XM_011523658.1:c.48+25149C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011521960.1:n.48+25149C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS090791"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 690,
          "referenceAllele": "C",
          "start": 689
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002260",
      "geneNCBI_id": 1352,
      "geneSymbol": "COX10",
      "hgvs": [
        "XR_933974.1:n.690C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS129420"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 690,
          "referenceAllele": "C",
          "start": 689
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002260",
      "geneNCBI_id": 1352,
      "geneSymbol": "COX10",
      "hgvs": [
        "XR_933975.1:n.690C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS129421"
    },
    {
      "@id": "http://reg.genome.network/allele/PA3083967823",
      "coordinates": [
        {
          "allele": "T",
          "end": 689,
          "referenceAllele": "C",
          "start": 688
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002260",
      "geneNCBI_id": 1352,
      "geneSymbol": "COX10",
      "hgvs": [
        "NM_001303.4:c.587C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001294.2:p.Thr196Ile",
        "hgvsWellDefined": "NP_001294.2:p.Thr196Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS664296",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000261643.8:c.587C>T"
          },
          "RefSeq": {
            "hgvs": "NM_001303.4:c.587C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000261643.3:p.Thr196Ile"
          },
          "RefSeq": {
            "hgvs": "NP_001294.2:p.Thr196Ile"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}