{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA9949130",
  "communityStandardTitle": [
    "NM_001853.4(COL9A3):c.280C>T (p.Pro94Ser)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=257387[alleleid]",
        "alleleId": 257387,
        "preferredName": "NM_001853.4(COL9A3):c.280C>T (p.Pro94Ser)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/258422",
        "RCV": [
          "RCV000249161",
          "RCV000991657"
        ],
        "variationId": 258422
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/20-61451305-C-T",
        "id": "20-61451305-C-T",
        "variant": "20:61451305 C / T"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr20:g.61451305C>T?assembly=hg19",
        "id": "chr20:g.61451305C>T"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr20:g.62819953C>T?assembly=hg38",
        "id": "chr20:g.62819953C>T"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/35908728",
        "rs": 35908728
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/20-61451305-C-T?dataset=gnomad_r2_1",
        "id": "20-61451305-C-T",
        "variant": "20:61451305 C / T"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/20-62819953-C-T?dataset=gnomad_r3",
        "id": "20-62819953-C-T",
        "variant": "20:62819953 C / T"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/20-62819953-C-T?dataset=gnomad_r4",
        "id": "20-62819953-C-T",
        "variant": "20:62819953 C / T"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "20",
      "coordinates": [
        {
          "allele": "T",
          "end": 62819953,
          "referenceAllele": "C",
          "start": 62819952
        }
      ],
      "hgvs": [
        "NC_000020.11:g.62819953C>T",
        "CM000682.2:g.62819953C>T"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000068"
    },
    {
      "chromosome": "20",
      "coordinates": [
        {
          "allele": "T",
          "end": 61451305,
          "referenceAllele": "C",
          "start": 61451304
        }
      ],
      "hgvs": [
        "NC_000020.10:g.61451305C>T",
        "CM000682.1:g.61451305C>T"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000044"
    },
    {
      "chromosome": "20",
      "coordinates": [
        {
          "allele": "T",
          "end": 60921750,
          "referenceAllele": "C",
          "start": 60921749
        }
      ],
      "hgvs": [
        "NC_000020.9:g.60921750C>T"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000020"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 7892,
          "referenceAllele": "C",
          "start": 7891
        }
      ],
      "hgvs": [
        "NG_016353.1:g.7892C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS003116"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 213,
          "referenceAllele": "C",
          "start": 212
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002219",
      "geneNCBI_id": 1299,
      "geneSymbol": "COL9A3",
      "hgvs": [
        "ENST00000452372.2:c.169C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000394280.1:p.Pro57Ser",
        "hgvsWellDefined": "ENSP00000394280.1:p.Pro57Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS756382"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 295,
          "referenceAllele": "C",
          "start": 294
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002219",
      "geneNCBI_id": 1299,
      "geneSymbol": "COL9A3",
      "hgvs": [
        "ENST00000649368.1:c.280C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000496793.1:p.Pro94Ser",
        "hgvsWellDefined": "ENSP00000496793.1:p.Pro94Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS770497",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000649368.1:c.280C>T"
          },
          "RefSeq": {
            "hgvs": "NM_001853.4:c.280C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000496793.1:p.Pro94Ser"
          },
          "RefSeq": {
            "hgvs": "NP_001844.3:p.Pro94Ser"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 283,
          "referenceAllele": "C",
          "start": 282
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002219",
      "geneNCBI_id": 1299,
      "geneSymbol": "COL9A3",
      "hgvs": [
        "ENST00000343916.7:c.280C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000341640.3:p.Pro94Ser",
        "hgvsWellDefined": "ENSP00000341640.3:p.Pro94Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS261858"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 192,
          "referenceAllele": "C",
          "start": 191
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002219",
      "geneNCBI_id": 1299,
      "geneSymbol": "COL9A3",
      "hgvs": [
        "ENST00000452372.1:c.169C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000394280.1:p.Pro57Ser",
        "hgvsWellDefined": "ENSP00000394280.1:p.Pro57Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS301590"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 276,
          "referenceAllele": "C",
          "start": 275
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002219",
      "geneNCBI_id": 1299,
      "geneSymbol": "COL9A3",
      "hgvs": [
        "ENST00000477612.5:n.276C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS318385"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 326,
          "referenceAllele": "C",
          "start": 325
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002219",
      "geneNCBI_id": 1299,
      "geneSymbol": "COL9A3",
      "hgvs": [
        "ENST00000489045.5:n.326C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS327191"
    },
    {
      "@id": "http://reg.genome.network/allele/PA645408353",
      "coordinates": [
        {
          "allele": "T",
          "end": 283,
          "referenceAllele": "C",
          "start": 282
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002219",
      "geneNCBI_id": 1299,
      "geneSymbol": "COL9A3",
      "hgvs": [
        "NM_001853.3:c.280C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001844.3:p.Pro94Ser",
        "hgvsWellDefined": "NP_001844.3:p.Pro94Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS027181"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 281,
          "referenceAllele": "C",
          "start": 280
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002219",
      "geneNCBI_id": 1299,
      "geneSymbol": "COL9A3",
      "hgvs": [
        "XM_011528543.1:c.280C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011526845.1:p.Pro94Ser",
        "hgvsWellDefined": "XP_011526845.1:p.Pro94Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS095614"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 98,
          "referenceAllele": "C",
          "start": 97
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002219",
      "geneNCBI_id": 1299,
      "geneSymbol": "COL9A3",
      "hgvs": [
        "XM_011528544.1:c.9C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011526846.1:p.Pro3="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS095615"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 281,
          "referenceAllele": "C",
          "start": 280
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002219",
      "geneNCBI_id": 1299,
      "geneSymbol": "COL9A3",
      "hgvs": [
        "XM_011528545.1:c.280C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011526847.1:p.Pro94Ser",
        "hgvsWellDefined": "XP_011526847.1:p.Pro94Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS095616"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 281,
          "referenceAllele": "C",
          "start": 280
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002219",
      "geneNCBI_id": 1299,
      "geneSymbol": "COL9A3",
      "hgvs": [
        "XM_011528546.1:c.280C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011526848.1:p.Pro94Ser",
        "hgvsWellDefined": "XP_011526848.1:p.Pro94Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS095617"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 281,
          "referenceAllele": "C",
          "start": 280
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002219",
      "geneNCBI_id": 1299,
      "geneSymbol": "COL9A3",
      "hgvs": [
        "XM_011528547.1:c.280C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011526849.1:p.Pro94Ser",
        "hgvsWellDefined": "XP_011526849.1:p.Pro94Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS095618"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 281,
          "referenceAllele": "C",
          "start": 280
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002219",
      "geneNCBI_id": 1299,
      "geneSymbol": "COL9A3",
      "hgvs": [
        "XR_936499.1:n.281C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS131709"
    },
    {
      "@id": "http://reg.genome.network/allele/PA645408353",
      "coordinates": [
        {
          "allele": "T",
          "end": 295,
          "referenceAllele": "C",
          "start": 294
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002219",
      "geneNCBI_id": 1299,
      "geneSymbol": "COL9A3",
      "hgvs": [
        "NM_001853.4:c.280C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001844.3:p.Pro94Ser",
        "hgvsWellDefined": "NP_001844.3:p.Pro94Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS524919",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000649368.1:c.280C>T"
          },
          "RefSeq": {
            "hgvs": "NM_001853.4:c.280C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000496793.1:p.Pro94Ser"
          },
          "RefSeq": {
            "hgvs": "NP_001844.3:p.Pro94Ser"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 281,
          "referenceAllele": "C",
          "start": 280
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002219",
      "geneNCBI_id": 1299,
      "geneSymbol": "COL9A3",
      "hgvs": [
        "XM_017027666.1:c.280C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_016883155.1:p.Pro94Ser",
        "hgvsWellDefined": "XP_016883155.1:p.Pro94Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS577572"
    }
  ],
  "type": "nucleotide"
}