{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA16043699",
  "communityStandardTitle": [
    "NM_001853.4(COL9A3):c.369+2T>C"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=361234[alleleid]",
        "alleleId": 361234,
        "preferredName": "NM_001853.4(COL9A3):c.369+2T>C"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/374320",
        "RCV": [
          "RCV000415238",
          "RCV002521463"
        ],
        "variationId": 374320
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr20:g.61452884T>C?assembly=hg19",
        "id": "chr20:g.61452884T>C"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr20:g.62821532T>C?assembly=hg38",
        "id": "chr20:g.62821532T>C"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/1057518693",
        "rs": 1057518693
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "20",
      "coordinates": [
        {
          "allele": "C",
          "end": 62821532,
          "referenceAllele": "T",
          "start": 62821531
        }
      ],
      "hgvs": [
        "NC_000020.11:g.62821532T>C",
        "CM000682.2:g.62821532T>C"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000068"
    },
    {
      "chromosome": "20",
      "coordinates": [
        {
          "allele": "C",
          "end": 61452884,
          "referenceAllele": "T",
          "start": 61452883
        }
      ],
      "hgvs": [
        "NC_000020.10:g.61452884T>C",
        "CM000682.1:g.61452884T>C"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000044"
    },
    {
      "chromosome": "20",
      "coordinates": [
        {
          "allele": "C",
          "end": 60923329,
          "referenceAllele": "T",
          "start": 60923328
        }
      ],
      "hgvs": [
        "NC_000020.9:g.60923329T>C"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000020"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 9471,
          "referenceAllele": "T",
          "start": 9470
        }
      ],
      "hgvs": [
        "NG_016353.1:g.9471T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS003116"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 302,
          "endIntronDirection": "+",
          "endIntronOffset": 2,
          "referenceAllele": "T",
          "start": 302,
          "startIntronDirection": "+",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002219",
      "geneNCBI_id": 1299,
      "geneSymbol": "COL9A3",
      "hgvs": [
        "ENST00000452372.2:c.258+2T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000394280.1:n.258+2T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS756382"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 384,
          "endIntronDirection": "+",
          "endIntronOffset": 2,
          "referenceAllele": "T",
          "start": 384,
          "startIntronDirection": "+",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002219",
      "geneNCBI_id": 1299,
      "geneSymbol": "COL9A3",
      "hgvs": [
        "ENST00000649368.1:c.369+2T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000496793.1:n.369+2T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS770497",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000649368.1:c.369+2T>C"
          },
          "RefSeq": {
            "hgvs": "NM_001853.4:c.369+2T>C"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000496793.1:n.369+2T>C"
          },
          "RefSeq": {
            "hgvs": "NP_001844.3:n.369+2T>C"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 372,
          "endIntronDirection": "+",
          "endIntronOffset": 2,
          "referenceAllele": "T",
          "start": 372,
          "startIntronDirection": "+",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002219",
      "geneNCBI_id": 1299,
      "geneSymbol": "COL9A3",
      "hgvs": [
        "ENST00000343916.7:c.369+2T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000341640.3:n.369+2T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS261858"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 281,
          "endIntronDirection": "+",
          "endIntronOffset": 2,
          "referenceAllele": "T",
          "start": 281,
          "startIntronDirection": "+",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002219",
      "geneNCBI_id": 1299,
      "geneSymbol": "COL9A3",
      "hgvs": [
        "ENST00000452372.1:c.258+2T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000394280.1:n.258+2T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS301590"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 365,
          "endIntronDirection": "+",
          "endIntronOffset": 2,
          "referenceAllele": "T",
          "start": 365,
          "startIntronDirection": "+",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002219",
      "geneNCBI_id": 1299,
      "geneSymbol": "COL9A3",
      "hgvs": [
        "ENST00000477612.5:n.365+2T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS318385"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 415,
          "endIntronDirection": "+",
          "endIntronOffset": 2,
          "referenceAllele": "T",
          "start": 415,
          "startIntronDirection": "+",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002219",
      "geneNCBI_id": 1299,
      "geneSymbol": "COL9A3",
      "hgvs": [
        "ENST00000489045.5:n.415+2T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS327191"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 372,
          "endIntronDirection": "+",
          "endIntronOffset": 2,
          "referenceAllele": "T",
          "start": 372,
          "startIntronDirection": "+",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002219",
      "geneNCBI_id": 1299,
      "geneSymbol": "COL9A3",
      "hgvs": [
        "NM_001853.3:c.369+2T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001844.3:n.369+2T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS027181"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 370,
          "endIntronDirection": "+",
          "endIntronOffset": 2,
          "referenceAllele": "T",
          "start": 370,
          "startIntronDirection": "+",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002219",
      "geneNCBI_id": 1299,
      "geneSymbol": "COL9A3",
      "hgvs": [
        "XM_011528543.1:c.369+2T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011526845.1:n.369+2T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS095614"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 251,
          "endIntronDirection": "+",
          "endIntronOffset": 2,
          "referenceAllele": "T",
          "start": 251,
          "startIntronDirection": "+",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002219",
      "geneNCBI_id": 1299,
      "geneSymbol": "COL9A3",
      "hgvs": [
        "XM_011528544.1:c.162+2T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011526846.1:n.162+2T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS095615"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 370,
          "endIntronDirection": "+",
          "endIntronOffset": 2,
          "referenceAllele": "T",
          "start": 370,
          "startIntronDirection": "+",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002219",
      "geneNCBI_id": 1299,
      "geneSymbol": "COL9A3",
      "hgvs": [
        "XM_011528545.1:c.369+2T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011526847.1:n.369+2T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS095616"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 370,
          "endIntronDirection": "+",
          "endIntronOffset": 2,
          "referenceAllele": "T",
          "start": 370,
          "startIntronDirection": "+",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002219",
      "geneNCBI_id": 1299,
      "geneSymbol": "COL9A3",
      "hgvs": [
        "XM_011528546.1:c.369+2T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011526848.1:n.369+2T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS095617"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 370,
          "endIntronDirection": "+",
          "endIntronOffset": 2,
          "referenceAllele": "T",
          "start": 370,
          "startIntronDirection": "+",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002219",
      "geneNCBI_id": 1299,
      "geneSymbol": "COL9A3",
      "hgvs": [
        "XM_011528547.1:c.369+2T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011526849.1:n.369+2T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS095618"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 370,
          "endIntronDirection": "+",
          "endIntronOffset": 2,
          "referenceAllele": "T",
          "start": 370,
          "startIntronDirection": "+",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002219",
      "geneNCBI_id": 1299,
      "geneSymbol": "COL9A3",
      "hgvs": [
        "XR_936499.1:n.370+2T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS131709"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 384,
          "endIntronDirection": "+",
          "endIntronOffset": 2,
          "referenceAllele": "T",
          "start": 384,
          "startIntronDirection": "+",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002219",
      "geneNCBI_id": 1299,
      "geneSymbol": "COL9A3",
      "hgvs": [
        "NM_001853.4:c.369+2T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001844.3:n.369+2T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS524919",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000649368.1:c.369+2T>C"
          },
          "RefSeq": {
            "hgvs": "NM_001853.4:c.369+2T>C"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000496793.1:n.369+2T>C"
          },
          "RefSeq": {
            "hgvs": "NP_001844.3:n.369+2T>C"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 370,
          "endIntronDirection": "+",
          "endIntronOffset": 2,
          "referenceAllele": "T",
          "start": 370,
          "startIntronDirection": "+",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002219",
      "geneNCBI_id": 1299,
      "geneSymbol": "COL9A3",
      "hgvs": [
        "XM_017027666.1:c.369+2T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_016883155.1:n.369+2T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS577572"
    }
  ],
  "type": "nucleotide"
}