{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA10576163",
  "communityStandardTitle": [
    "NM_152888.3(COL22A1):c.658+5484G>A"
  ],
  "externalRecords": {
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr8:g.139884509C>T?assembly=hg19",
        "id": "chr8:g.139884509C>T"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr8:g.138872266C>T?assembly=hg38",
        "id": "chr8:g.138872266C>T"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/6988229",
        "rs": 6988229
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/8-139884509-C-T?dataset=gnomad_r2_1",
        "id": "8-139884509-C-T",
        "variant": "8:139884509 C / T"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/8-138872266-C-T?dataset=gnomad_r3",
        "id": "8-138872266-C-T",
        "variant": "8:138872266 C / T"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/8-138872266-C-T?dataset=gnomad_r4",
        "id": "8-138872266-C-T",
        "variant": "8:138872266 C / T"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "8",
      "coordinates": [
        {
          "allele": "T",
          "end": 138872266,
          "referenceAllele": "C",
          "start": 138872265
        }
      ],
      "hgvs": [
        "NC_000008.11:g.138872266C>T",
        "CM000670.2:g.138872266C>T"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000056"
    },
    {
      "chromosome": "8",
      "coordinates": [
        {
          "allele": "T",
          "end": 139884509,
          "referenceAllele": "C",
          "start": 139884508
        }
      ],
      "hgvs": [
        "NC_000008.10:g.139884509C>T",
        "CM000670.1:g.139884509C>T"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000032"
    },
    {
      "chromosome": "8",
      "coordinates": [
        {
          "allele": "T",
          "end": 139953691,
          "referenceAllele": "C",
          "start": 139953690
        }
      ],
      "hgvs": [
        "NC_000008.9:g.139953691C>T"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000008"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 46822,
          "referenceAllele": "G",
          "start": 46821
        }
      ],
      "hgvs": [
        "NG_054761.1:g.46822G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS617515"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1153,
          "endIntronDirection": "+",
          "endIntronOffset": 5484,
          "referenceAllele": "G",
          "start": 1153,
          "startIntronDirection": "+",
          "startIntronOffset": 5483
        }
      ],
      "gene": "http://reg.genome.network/gene/GN022989",
      "geneNCBI_id": 169044,
      "geneSymbol": "COL22A1",
      "hgvs": [
        "ENST00000303045.11:c.658+5484G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000303153.6:n.658+5484G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS744998",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000303045.11:c.658+5484G>A"
          },
          "RefSeq": {
            "hgvs": "NM_152888.3:c.658+5484G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000303153.6:n.658+5484G>A"
          },
          "RefSeq": {
            "hgvs": "NP_690848.1:n.658+5484G>A"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1105,
          "endIntronDirection": "+",
          "endIntronOffset": 5484,
          "referenceAllele": "G",
          "start": 1105,
          "startIntronDirection": "+",
          "startIntronOffset": 5483
        }
      ],
      "gene": "http://reg.genome.network/gene/GN022989",
      "geneNCBI_id": 169044,
      "geneSymbol": "COL22A1",
      "hgvs": [
        "ENST00000303045.10:c.658+5484G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000303153.6:n.658+5484G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS255268"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 697,
          "endIntronDirection": "+",
          "endIntronOffset": 5484,
          "referenceAllele": "G",
          "start": 697,
          "startIntronDirection": "+",
          "startIntronOffset": 5483
        }
      ],
      "gene": "http://reg.genome.network/gene/GN022989",
      "geneNCBI_id": 169044,
      "geneSymbol": "COL22A1",
      "hgvs": [
        "ENST00000435777.2:c.658+5484G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000387655.2:n.658+5484G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS293663"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1118,
          "endIntronDirection": "+",
          "endIntronOffset": 5484,
          "referenceAllele": "G",
          "start": 1118,
          "startIntronDirection": "+",
          "startIntronOffset": 5483
        }
      ],
      "gene": "http://reg.genome.network/gene/GN022989",
      "geneNCBI_id": 169044,
      "geneSymbol": "COL22A1",
      "hgvs": [
        "NM_152888.2:c.658+5484G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_690848.1:n.658+5484G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS042191"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1204,
          "endIntronDirection": "+",
          "endIntronOffset": 5484,
          "referenceAllele": "G",
          "start": 1204,
          "startIntronDirection": "+",
          "startIntronOffset": 5483
        }
      ],
      "gene": "http://reg.genome.network/gene/GN022989",
      "geneNCBI_id": 169044,
      "geneSymbol": "COL22A1",
      "hgvs": [
        "XM_011516883.1:c.658+5484G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011515185.1:n.658+5484G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS084082"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1204,
          "endIntronDirection": "+",
          "endIntronOffset": 5484,
          "referenceAllele": "G",
          "start": 1204,
          "startIntronDirection": "+",
          "startIntronOffset": 5483
        }
      ],
      "gene": "http://reg.genome.network/gene/GN022989",
      "geneNCBI_id": 169044,
      "geneSymbol": "COL22A1",
      "hgvs": [
        "XM_011516884.1:c.658+5484G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011515186.1:n.658+5484G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS084083"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1204,
          "endIntronDirection": "+",
          "endIntronOffset": 5484,
          "referenceAllele": "G",
          "start": 1204,
          "startIntronDirection": "+",
          "startIntronOffset": 5483
        }
      ],
      "gene": "http://reg.genome.network/gene/GN022989",
      "geneNCBI_id": 169044,
      "geneSymbol": "COL22A1",
      "hgvs": [
        "XM_011516885.1:c.658+5484G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011515187.1:n.658+5484G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS084084"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1117,
          "endIntronDirection": "+",
          "endIntronOffset": 5484,
          "referenceAllele": "G",
          "start": 1117,
          "startIntronDirection": "+",
          "startIntronOffset": 5483
        }
      ],
      "gene": "http://reg.genome.network/gene/GN022989",
      "geneNCBI_id": 169044,
      "geneSymbol": "COL22A1",
      "hgvs": [
        "XM_011516886.1:c.571+5484G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011515188.1:n.571+5484G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS084085"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1206,
          "endIntronDirection": "+",
          "endIntronOffset": 5484,
          "referenceAllele": "G",
          "start": 1206,
          "startIntronDirection": "+",
          "startIntronOffset": 5483
        }
      ],
      "gene": "http://reg.genome.network/gene/GN022989",
      "geneNCBI_id": 169044,
      "geneSymbol": "COL22A1",
      "hgvs": [
        "XM_011516888.1:c.658+5484G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011515190.1:n.658+5484G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS084087"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1206,
          "endIntronDirection": "+",
          "endIntronOffset": 5484,
          "referenceAllele": "G",
          "start": 1206,
          "startIntronDirection": "+",
          "startIntronOffset": 5483
        }
      ],
      "gene": "http://reg.genome.network/gene/GN022989",
      "geneNCBI_id": 169044,
      "geneSymbol": "COL22A1",
      "hgvs": [
        "XM_011516891.1:c.658+5484G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011515193.1:n.658+5484G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS084090"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1196,
          "endIntronDirection": "+",
          "endIntronOffset": 5484,
          "referenceAllele": "G",
          "start": 1196,
          "startIntronDirection": "+",
          "startIntronOffset": 5483
        }
      ],
      "gene": "http://reg.genome.network/gene/GN022989",
      "geneNCBI_id": 169044,
      "geneSymbol": "COL22A1",
      "hgvs": [
        "XM_011516883.2:c.658+5484G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011515185.1:n.658+5484G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS544324"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1196,
          "endIntronDirection": "+",
          "endIntronOffset": 5484,
          "referenceAllele": "G",
          "start": 1196,
          "startIntronDirection": "+",
          "startIntronOffset": 5483
        }
      ],
      "gene": "http://reg.genome.network/gene/GN022989",
      "geneNCBI_id": 169044,
      "geneSymbol": "COL22A1",
      "hgvs": [
        "XM_011516884.2:c.658+5484G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011515186.1:n.658+5484G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS544325"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1196,
          "endIntronDirection": "+",
          "endIntronOffset": 5484,
          "referenceAllele": "G",
          "start": 1196,
          "startIntronDirection": "+",
          "startIntronOffset": 5483
        }
      ],
      "gene": "http://reg.genome.network/gene/GN022989",
      "geneNCBI_id": 169044,
      "geneSymbol": "COL22A1",
      "hgvs": [
        "XM_011516885.2:c.658+5484G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011515187.1:n.658+5484G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS544326"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1109,
          "endIntronDirection": "+",
          "endIntronOffset": 5484,
          "referenceAllele": "G",
          "start": 1109,
          "startIntronDirection": "+",
          "startIntronOffset": 5483
        }
      ],
      "gene": "http://reg.genome.network/gene/GN022989",
      "geneNCBI_id": 169044,
      "geneSymbol": "COL22A1",
      "hgvs": [
        "XM_011516886.3:c.571+5484G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011515188.1:n.571+5484G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS544327"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1199,
          "endIntronDirection": "+",
          "endIntronOffset": 5484,
          "referenceAllele": "G",
          "start": 1199,
          "startIntronDirection": "+",
          "startIntronOffset": 5483
        }
      ],
      "gene": "http://reg.genome.network/gene/GN022989",
      "geneNCBI_id": 169044,
      "geneSymbol": "COL22A1",
      "hgvs": [
        "XM_011516888.2:c.658+5484G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011515190.1:n.658+5484G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS544329"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1070,
          "endIntronDirection": "+",
          "endIntronOffset": 5484,
          "referenceAllele": "G",
          "start": 1070,
          "startIntronDirection": "+",
          "startIntronOffset": 5483
        }
      ],
      "gene": "http://reg.genome.network/gene/GN022989",
      "geneNCBI_id": 169044,
      "geneSymbol": "COL22A1",
      "hgvs": [
        "XM_017013150.2:c.532+5484G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_016868639.1:n.532+5484G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS566523"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1196,
          "endIntronDirection": "+",
          "endIntronOffset": 5484,
          "referenceAllele": "G",
          "start": 1196,
          "startIntronDirection": "+",
          "startIntronOffset": 5483
        }
      ],
      "gene": "http://reg.genome.network/gene/GN022989",
      "geneNCBI_id": 169044,
      "geneSymbol": "COL22A1",
      "hgvs": [
        "XM_017013151.1:c.658+5484G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_016868640.1:n.658+5484G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS566524"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1199,
          "endIntronDirection": "+",
          "endIntronOffset": 5484,
          "referenceAllele": "G",
          "start": 1199,
          "startIntronDirection": "+",
          "startIntronOffset": 5483
        }
      ],
      "gene": "http://reg.genome.network/gene/GN022989",
      "geneNCBI_id": 169044,
      "geneSymbol": "COL22A1",
      "hgvs": [
        "XR_001745487.1:n.1199+5484G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS594007"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1153,
          "endIntronDirection": "+",
          "endIntronOffset": 5484,
          "referenceAllele": "G",
          "start": 1153,
          "startIntronDirection": "+",
          "startIntronOffset": 5483
        }
      ],
      "gene": "http://reg.genome.network/gene/GN022989",
      "geneNCBI_id": 169044,
      "geneSymbol": "COL22A1",
      "hgvs": [
        "NM_152888.3:c.658+5484G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_690848.1:n.658+5484G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS672469",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000303045.11:c.658+5484G>A"
          },
          "RefSeq": {
            "hgvs": "NM_152888.3:c.658+5484G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000303153.6:n.658+5484G>A"
          },
          "RefSeq": {
            "hgvs": "NP_690848.1:n.658+5484G>A"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}