{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA409595984",
  "communityStandardTitle": [
    "NM_001853.4(COL9A3):c.1304C>G (p.Ala435Gly)"
  ],
  "externalRecords": {
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr20:g.61463522C>G?assembly=hg19",
        "id": "chr20:g.61463522C>G"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr20:g.62832170C>G?assembly=hg38",
        "id": "chr20:g.62832170C>G"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/751557",
        "rs": 751557
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "20",
      "coordinates": [
        {
          "allele": "G",
          "end": 62832170,
          "referenceAllele": "C",
          "start": 62832169
        }
      ],
      "hgvs": [
        "NC_000020.11:g.62832170C>G",
        "CM000682.2:g.62832170C>G"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000068"
    },
    {
      "chromosome": "20",
      "coordinates": [
        {
          "allele": "G",
          "end": 61463522,
          "referenceAllele": "C",
          "start": 61463521
        }
      ],
      "hgvs": [
        "NC_000020.10:g.61463522C>G",
        "CM000682.1:g.61463522C>G"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000044"
    },
    {
      "chromosome": "20",
      "coordinates": [
        {
          "allele": "G",
          "end": 60933967,
          "referenceAllele": "C",
          "start": 60933966
        }
      ],
      "hgvs": [
        "NC_000020.9:g.60933967C>G"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000020"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 20109,
          "referenceAllele": "C",
          "start": 20108
        }
      ],
      "hgvs": [
        "NG_016353.1:g.20109C>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS003116"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1319,
          "referenceAllele": "C",
          "start": 1318
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002219",
      "geneNCBI_id": 1299,
      "geneSymbol": "COL9A3",
      "hgvs": [
        "ENST00000649368.1:c.1304C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000496793.1:p.Ala435Gly",
        "hgvsWellDefined": "ENSP00000496793.1:p.Ala435Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS770497",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000649368.1:c.1304C>G"
          },
          "RefSeq": {
            "hgvs": "NM_001853.4:c.1304C>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000496793.1:p.Ala435Gly"
          },
          "RefSeq": {
            "hgvs": "NP_001844.3:p.Ala435Gly"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1307,
          "referenceAllele": "C",
          "start": 1306
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002219",
      "geneNCBI_id": 1299,
      "geneSymbol": "COL9A3",
      "hgvs": [
        "ENST00000343916.7:c.1304C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000341640.3:p.Ala435Gly",
        "hgvsWellDefined": "ENSP00000341640.3:p.Ala435Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS261858"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1031,
          "referenceAllele": "C",
          "start": 1030
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002219",
      "geneNCBI_id": 1299,
      "geneSymbol": "COL9A3",
      "hgvs": [
        "ENST00000466192.5:n.1031C>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS309625"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 600,
          "referenceAllele": "C",
          "start": 599
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002219",
      "geneNCBI_id": 1299,
      "geneSymbol": "COL9A3",
      "hgvs": [
        "ENST00000469852.5:n.600C>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS312430"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 277,
          "referenceAllele": "C",
          "start": 276
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002219",
      "geneNCBI_id": 1299,
      "geneSymbol": "COL9A3",
      "hgvs": [
        "ENST00000481800.1:n.277C>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS321642"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 101,
          "referenceAllele": "C",
          "start": 100
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002219",
      "geneNCBI_id": 1299,
      "geneSymbol": "COL9A3",
      "hgvs": [
        "ENST00000490398.5:n.101C>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS328230"
    },
    {
      "@id": "http://reg.genome.network/allele/PA3087690790",
      "coordinates": [
        {
          "allele": "G",
          "end": 1307,
          "referenceAllele": "C",
          "start": 1306
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002219",
      "geneNCBI_id": 1299,
      "geneSymbol": "COL9A3",
      "hgvs": [
        "NM_001853.3:c.1304C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001844.3:p.Ala435Gly",
        "hgvsWellDefined": "NP_001844.3:p.Ala435Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS027181"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1305,
          "referenceAllele": "C",
          "start": 1304
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002219",
      "geneNCBI_id": 1299,
      "geneSymbol": "COL9A3",
      "hgvs": [
        "XM_011528543.1:c.1304C>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011526845.1:p.Ala435Gly",
        "hgvsWellDefined": "XP_011526845.1:p.Ala435Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS095614"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1186,
          "referenceAllele": "C",
          "start": 1185
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002219",
      "geneNCBI_id": 1299,
      "geneSymbol": "COL9A3",
      "hgvs": [
        "XM_011528544.1:c.1097C>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011526846.1:p.Ala366Gly",
        "hgvsWellDefined": "XP_011526846.1:p.Ala366Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS095615"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1305,
          "referenceAllele": "C",
          "start": 1304
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002219",
      "geneNCBI_id": 1299,
      "geneSymbol": "COL9A3",
      "hgvs": [
        "XM_011528545.1:c.1304C>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011526847.1:p.Ala435Gly",
        "hgvsWellDefined": "XP_011526847.1:p.Ala435Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS095616"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1305,
          "referenceAllele": "C",
          "start": 1304
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002219",
      "geneNCBI_id": 1299,
      "geneSymbol": "COL9A3",
      "hgvs": [
        "XM_011528546.1:c.1304C>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011526848.1:p.Ala435Gly",
        "hgvsWellDefined": "XP_011526848.1:p.Ala435Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS095617"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1305,
          "referenceAllele": "C",
          "start": 1304
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002219",
      "geneNCBI_id": 1299,
      "geneSymbol": "COL9A3",
      "hgvs": [
        "XM_011528547.1:c.1304C>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011526849.1:p.Ala435Gly",
        "hgvsWellDefined": "XP_011526849.1:p.Ala435Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS095618"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1305,
          "referenceAllele": "C",
          "start": 1304
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002219",
      "geneNCBI_id": 1299,
      "geneSymbol": "COL9A3",
      "hgvs": [
        "XR_936499.1:n.1305C>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS131709"
    },
    {
      "@id": "http://reg.genome.network/allele/PA3087690790",
      "coordinates": [
        {
          "allele": "G",
          "end": 1319,
          "referenceAllele": "C",
          "start": 1318
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002219",
      "geneNCBI_id": 1299,
      "geneSymbol": "COL9A3",
      "hgvs": [
        "NM_001853.4:c.1304C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001844.3:p.Ala435Gly",
        "hgvsWellDefined": "NP_001844.3:p.Ala435Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS524919",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000649368.1:c.1304C>G"
          },
          "RefSeq": {
            "hgvs": "NM_001853.4:c.1304C>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000496793.1:p.Ala435Gly"
          },
          "RefSeq": {
            "hgvs": "NP_001844.3:p.Ala435Gly"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1305,
          "referenceAllele": "C",
          "start": 1304
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002219",
      "geneNCBI_id": 1299,
      "geneSymbol": "COL9A3",
      "hgvs": [
        "XM_017027666.1:c.1304C>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_016883155.1:p.Ala435Gly",
        "hgvsWellDefined": "XP_016883155.1:p.Ala435Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS577572"
    }
  ],
  "type": "nucleotide"
}