{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA118862",
  "communityStandardTitle": [
    "NM_001303.4(COX10):c.1007A>T (p.Asp336Val)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=22564[alleleid]",
        "alleleId": 22564,
        "preferredName": "NM_001303.4(COX10):c.1007A>T (p.Asp336Val)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/7525",
        "RCV": [
          "RCV000007960",
          "RCV000995747",
          "RCV003555963"
        ],
        "variationId": 7525
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/17-14110205-A-T",
        "id": "17-14110205-A-T",
        "variant": "17:14110205 A / T"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr17:g.14110205A>T?assembly=hg19",
        "id": "chr17:g.14110205A>T"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr17:g.14206888A>T?assembly=hg38",
        "id": "chr17:g.14206888A>T"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/104894557",
        "rs": 104894557
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/17-14110205-A-T?dataset=gnomad_r2_1",
        "id": "17-14110205-A-T",
        "variant": "17:14110205 A / T"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/17-14206888-A-T?dataset=gnomad_r3",
        "id": "17-14206888-A-T",
        "variant": "17:14206888 A / T"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/17-14206888-A-T?dataset=gnomad_r4",
        "id": "17-14206888-A-T",
        "variant": "17:14206888 A / T"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "17",
      "coordinates": [
        {
          "allele": "T",
          "end": 14206888,
          "referenceAllele": "A",
          "start": 14206887
        }
      ],
      "hgvs": [
        "NC_000017.11:g.14206888A>T",
        "CM000679.2:g.14206888A>T"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000065"
    },
    {
      "chromosome": "17",
      "coordinates": [
        {
          "allele": "T",
          "end": 14110205,
          "referenceAllele": "A",
          "start": 14110204
        }
      ],
      "hgvs": [
        "NC_000017.10:g.14110205A>T",
        "CM000679.1:g.14110205A>T"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000041"
    },
    {
      "chromosome": "17",
      "coordinates": [
        {
          "allele": "T",
          "end": 14050930,
          "referenceAllele": "A",
          "start": 14050929
        }
      ],
      "hgvs": [
        "NC_000017.9:g.14050930A>T"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000017"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 142487,
          "referenceAllele": "A",
          "start": 142486
        }
      ],
      "hgvs": [
        "NG_008034.1:g.142487A>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS000791"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1109,
          "referenceAllele": "A",
          "start": 1108
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002260",
      "geneNCBI_id": 1352,
      "geneSymbol": "COX10",
      "hgvs": [
        "ENST00000261643.8:c.1007A>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000261643.3:p.Asp336Val",
        "hgvsWellDefined": "ENSP00000261643.3:p.Asp336Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS742177",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000261643.8:c.1007A>T"
          },
          "RefSeq": {
            "hgvs": "NM_001303.4:c.1007A>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000261643.3:p.Asp336Val"
          },
          "RefSeq": {
            "hgvs": "NP_001294.2:p.Asp336Val"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1123,
          "referenceAllele": "A",
          "start": 1122
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002260",
      "geneNCBI_id": 1352,
      "geneSymbol": "COX10",
      "hgvs": [
        "ENST00000664217.1:c.1007A>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000499396.1:p.Asp336Val",
        "hgvsWellDefined": "ENSP00000499396.1:p.Asp336Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS772848"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1044,
          "endIntronDirection": "-",
          "endIntronOffset": 2620,
          "referenceAllele": "A",
          "start": 1044,
          "startIntronDirection": "-",
          "startIntronOffset": 2621
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002260",
      "geneNCBI_id": 1352,
      "geneSymbol": "COX10",
      "hgvs": [
        "ENST00000670279.1:c.929-2621A>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000499450.1:n.929-2621A>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS773094"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1084,
          "referenceAllele": "A",
          "start": 1083
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002260",
      "geneNCBI_id": 1352,
      "geneSymbol": "COX10",
      "hgvs": [
        "ENST00000261643.7:c.1007A>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000261643.3:p.Asp336Val",
        "hgvsWellDefined": "ENSP00000261643.3:p.Asp336Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS250799"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 687,
          "referenceAllele": "A",
          "start": 686
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002260",
      "geneNCBI_id": 1352,
      "geneSymbol": "COX10",
      "hgvs": [
        "ENST00000580561.1:c.*496A>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000462190.1:n.*496A>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS386387"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 884,
          "referenceAllele": "A",
          "start": 883
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002260",
      "geneNCBI_id": 1352,
      "geneSymbol": "COX10",
      "hgvs": [
        "ENST00000581931.5:c.*375A>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000462512.1:n.*375A>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS387019"
    },
    {
      "@id": "http://reg.genome.network/allele/PA094067",
      "coordinates": [
        {
          "allele": "T",
          "end": 1211,
          "referenceAllele": "A",
          "start": 1210
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002260",
      "geneNCBI_id": 1352,
      "geneSymbol": "COX10",
      "hgvs": [
        "NM_001303.3:c.1007A>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001294.2:p.Asp336Val",
        "hgvsWellDefined": "NP_001294.2:p.Asp336Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS025382"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 877,
          "referenceAllele": "A",
          "start": 876
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002260",
      "geneNCBI_id": 1352,
      "geneSymbol": "COX10",
      "hgvs": [
        "XM_011523657.1:c.*3A>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011521959.1:n.*3A>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS090790"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 985,
          "referenceAllele": "A",
          "start": 984
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002260",
      "geneNCBI_id": 1352,
      "geneSymbol": "COX10",
      "hgvs": [
        "XM_011523658.1:c.431A>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011521960.1:p.Asp144Val",
        "hgvsWellDefined": "XP_011521960.1:p.Asp144Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS090791"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1031,
          "endIntronDirection": "-",
          "endIntronOffset": 2620,
          "referenceAllele": "A",
          "start": 1031,
          "startIntronDirection": "-",
          "startIntronOffset": 2621
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002260",
      "geneNCBI_id": 1352,
      "geneSymbol": "COX10",
      "hgvs": [
        "XR_933974.1:n.1032-2621A>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS129420"
    },
    {
      "@id": "http://reg.genome.network/allele/PA094067",
      "coordinates": [
        {
          "allele": "T",
          "end": 1109,
          "referenceAllele": "A",
          "start": 1108
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002260",
      "geneNCBI_id": 1352,
      "geneSymbol": "COX10",
      "hgvs": [
        "NM_001303.4:c.1007A>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001294.2:p.Asp336Val",
        "hgvsWellDefined": "NP_001294.2:p.Asp336Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS664296",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000261643.8:c.1007A>T"
          },
          "RefSeq": {
            "hgvs": "NM_001303.4:c.1007A>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000261643.3:p.Asp336Val"
          },
          "RefSeq": {
            "hgvs": "NP_001294.2:p.Asp336Val"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}