{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA8402523",
  "communityStandardTitle": [
    "NM_001303.4(COX10):c.1070C>T (p.Ala357Val)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=1152756[alleleid]",
        "alleleId": 1152756,
        "preferredName": "NM_001303.4(COX10):c.1070C>T (p.Ala357Val)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/1162813",
        "RCV": [
          "RCV001507375",
          "RCV002501736"
        ],
        "variationId": 1162813
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/17-14110268-C-T",
        "id": "17-14110268-C-T",
        "variant": "17:14110268 C / T"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr17:g.14110268C>T?assembly=hg19",
        "id": "chr17:g.14110268C>T"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr17:g.14206951C>T?assembly=hg38",
        "id": "chr17:g.14206951C>T"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/148783821",
        "rs": 148783821
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/17-14110268-C-T?dataset=gnomad_r2_1",
        "id": "17-14110268-C-T",
        "variant": "17:14110268 C / T"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/17-14206951-C-T?dataset=gnomad_r3",
        "id": "17-14206951-C-T",
        "variant": "17:14206951 C / T"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/17-14206951-C-T?dataset=gnomad_r4",
        "id": "17-14206951-C-T",
        "variant": "17:14206951 C / T"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "17",
      "coordinates": [
        {
          "allele": "T",
          "end": 14206951,
          "referenceAllele": "C",
          "start": 14206950
        }
      ],
      "hgvs": [
        "NC_000017.11:g.14206951C>T",
        "CM000679.2:g.14206951C>T"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000065"
    },
    {
      "chromosome": "17",
      "coordinates": [
        {
          "allele": "T",
          "end": 14110268,
          "referenceAllele": "C",
          "start": 14110267
        }
      ],
      "hgvs": [
        "NC_000017.10:g.14110268C>T",
        "CM000679.1:g.14110268C>T"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000041"
    },
    {
      "chromosome": "17",
      "coordinates": [
        {
          "allele": "T",
          "end": 14050993,
          "referenceAllele": "C",
          "start": 14050992
        }
      ],
      "hgvs": [
        "NC_000017.9:g.14050993C>T"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000017"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 142550,
          "referenceAllele": "C",
          "start": 142549
        }
      ],
      "hgvs": [
        "NG_008034.1:g.142550C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS000791"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1172,
          "referenceAllele": "C",
          "start": 1171
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002260",
      "geneNCBI_id": 1352,
      "geneSymbol": "COX10",
      "hgvs": [
        "ENST00000261643.8:c.1070C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000261643.3:p.Ala357Val",
        "hgvsWellDefined": "ENSP00000261643.3:p.Ala357Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS742177",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000261643.8:c.1070C>T"
          },
          "RefSeq": {
            "hgvs": "NM_001303.4:c.1070C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000261643.3:p.Ala357Val"
          },
          "RefSeq": {
            "hgvs": "NP_001294.2:p.Ala357Val"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1186,
          "referenceAllele": "C",
          "start": 1185
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002260",
      "geneNCBI_id": 1352,
      "geneSymbol": "COX10",
      "hgvs": [
        "ENST00000664217.1:c.1070C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000499396.1:p.Ala357Val",
        "hgvsWellDefined": "ENSP00000499396.1:p.Ala357Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS772848"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1044,
          "endIntronDirection": "-",
          "endIntronOffset": 2557,
          "referenceAllele": "C",
          "start": 1044,
          "startIntronDirection": "-",
          "startIntronOffset": 2558
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002260",
      "geneNCBI_id": 1352,
      "geneSymbol": "COX10",
      "hgvs": [
        "ENST00000670279.1:c.929-2558C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000499450.1:n.929-2558C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS773094"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1147,
          "referenceAllele": "C",
          "start": 1146
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002260",
      "geneNCBI_id": 1352,
      "geneSymbol": "COX10",
      "hgvs": [
        "ENST00000261643.7:c.1070C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000261643.3:p.Ala357Val",
        "hgvsWellDefined": "ENSP00000261643.3:p.Ala357Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS250799"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 750,
          "referenceAllele": "C",
          "start": 749
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002260",
      "geneNCBI_id": 1352,
      "geneSymbol": "COX10",
      "hgvs": [
        "ENST00000580561.1:c.*559C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000462190.1:n.*559C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS386387"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 947,
          "referenceAllele": "C",
          "start": 946
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002260",
      "geneNCBI_id": 1352,
      "geneSymbol": "COX10",
      "hgvs": [
        "ENST00000581931.5:c.*438C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000462512.1:n.*438C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS387019"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2499247429",
      "coordinates": [
        {
          "allele": "T",
          "end": 1274,
          "referenceAllele": "C",
          "start": 1273
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002260",
      "geneNCBI_id": 1352,
      "geneSymbol": "COX10",
      "hgvs": [
        "NM_001303.3:c.1070C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001294.2:p.Ala357Val",
        "hgvsWellDefined": "NP_001294.2:p.Ala357Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS025382"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1048,
          "referenceAllele": "C",
          "start": 1047
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002260",
      "geneNCBI_id": 1352,
      "geneSymbol": "COX10",
      "hgvs": [
        "XM_011523658.1:c.494C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011521960.1:p.Ala165Val",
        "hgvsWellDefined": "XP_011521960.1:p.Ala165Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS090791"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1031,
          "endIntronDirection": "-",
          "endIntronOffset": 2557,
          "referenceAllele": "C",
          "start": 1031,
          "startIntronDirection": "-",
          "startIntronOffset": 2558
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002260",
      "geneNCBI_id": 1352,
      "geneSymbol": "COX10",
      "hgvs": [
        "XR_933974.1:n.1032-2558C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS129420"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2499247429",
      "coordinates": [
        {
          "allele": "T",
          "end": 1172,
          "referenceAllele": "C",
          "start": 1171
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002260",
      "geneNCBI_id": 1352,
      "geneSymbol": "COX10",
      "hgvs": [
        "NM_001303.4:c.1070C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001294.2:p.Ala357Val",
        "hgvsWellDefined": "NP_001294.2:p.Ala357Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS664296",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000261643.8:c.1070C>T"
          },
          "RefSeq": {
            "hgvs": "NM_001303.4:c.1070C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000261643.3:p.Ala357Val"
          },
          "RefSeq": {
            "hgvs": "NP_001294.2:p.Ala357Val"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}