{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA1295263",
  "communityStandardTitle": [
    "NM_031935.3(HMCN1):c.15440-9C>T"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=865066[alleleid]",
        "alleleId": 865066,
        "preferredName": "NM_031935.3(HMCN1):c.15440-9C>T"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/875037",
        "RCV": [
          "RCV001098521",
          "RCV002069661",
          "RCV003945807"
        ],
        "variationId": 875037
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/1-186135931-C-T",
        "id": "1-186135931-C-T",
        "variant": "1:186135931 C / T"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr1:g.186135931C>T?assembly=hg19",
        "id": "chr1:g.186135931C>T"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr1:g.186166799C>T?assembly=hg38",
        "id": "chr1:g.186166799C>T"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/374670687",
        "rs": 374670687
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/1-186135931-C-T?dataset=gnomad_r2_1",
        "id": "1-186135931-C-T",
        "variant": "1:186135931 C / T"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/1-186166799-C-T?dataset=gnomad_r3",
        "id": "1-186166799-C-T",
        "variant": "1:186166799 C / T"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/1-186166799-C-T?dataset=gnomad_r4",
        "id": "1-186166799-C-T",
        "variant": "1:186166799 C / T"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "1",
      "coordinates": [
        {
          "allele": "T",
          "end": 186166799,
          "referenceAllele": "C",
          "start": 186166798
        }
      ],
      "hgvs": [
        "NC_000001.11:g.186166799C>T",
        "CM000663.2:g.186166799C>T"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000049"
    },
    {
      "chromosome": "1",
      "coordinates": [
        {
          "allele": "T",
          "end": 186135931,
          "referenceAllele": "C",
          "start": 186135930
        }
      ],
      "hgvs": [
        "NC_000001.10:g.186135931C>T",
        "CM000663.1:g.186135931C>T"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000025"
    },
    {
      "chromosome": "1",
      "coordinates": [
        {
          "allele": "T",
          "end": 184402554,
          "referenceAllele": "C",
          "start": 184402553
        }
      ],
      "hgvs": [
        "NC_000001.9:g.184402554C>T"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000001"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 437249,
          "referenceAllele": "C",
          "start": 437248
        }
      ],
      "hgvs": [
        "NG_011841.1:g.437249C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS002021"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 15828,
          "endIntronDirection": "-",
          "endIntronOffset": 8,
          "referenceAllele": "C",
          "start": 15828,
          "startIntronDirection": "-",
          "startIntronOffset": 9
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019194",
      "geneNCBI_id": 83872,
      "geneSymbol": "HMCN1",
      "hgvs": [
        "ENST00000271588.9:c.15440-9C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000271588.4:n.15440-9C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS743201",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000271588.9:c.15440-9C>T"
          },
          "RefSeq": {
            "hgvs": "NM_031935.3:c.15440-9C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000271588.4:n.15440-9C>T"
          },
          "RefSeq": {
            "hgvs": "NP_114141.2:n.15440-9C>T"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 15668,
          "endIntronDirection": "-",
          "endIntronOffset": 8,
          "referenceAllele": "C",
          "start": 15668,
          "startIntronDirection": "-",
          "startIntronOffset": 9
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019194",
      "geneNCBI_id": 83872,
      "geneSymbol": "HMCN1",
      "hgvs": [
        "ENST00000271588.8:c.15440-9C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000271588.4:n.15440-9C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS252307"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 162,
          "endIntronDirection": "-",
          "endIntronOffset": 4537,
          "referenceAllele": "C",
          "start": 162,
          "startIntronDirection": "-",
          "startIntronOffset": 4538
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019194",
      "geneNCBI_id": 83872,
      "geneSymbol": "HMCN1",
      "hgvs": [
        "ENST00000475585.1:n.163-4538C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS316837"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 15668,
          "endIntronDirection": "-",
          "endIntronOffset": 8,
          "referenceAllele": "C",
          "start": 15668,
          "startIntronDirection": "-",
          "startIntronOffset": 9
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019194",
      "geneNCBI_id": 83872,
      "geneSymbol": "HMCN1",
      "hgvs": [
        "NM_031935.2:c.15440-9C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_114141.2:n.15440-9C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS038745"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 15545,
          "endIntronDirection": "-",
          "endIntronOffset": 8,
          "referenceAllele": "C",
          "start": 15545,
          "startIntronDirection": "-",
          "startIntronOffset": 9
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019194",
      "geneNCBI_id": 83872,
      "geneSymbol": "HMCN1",
      "hgvs": [
        "XM_011510037.1:c.15155-9C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011508339.1:n.15155-9C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS077302"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 15829,
          "endIntronDirection": "-",
          "endIntronOffset": 8,
          "referenceAllele": "C",
          "start": 15829,
          "startIntronDirection": "-",
          "startIntronOffset": 9
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019194",
      "geneNCBI_id": 83872,
      "geneSymbol": "HMCN1",
      "hgvs": [
        "XM_011510038.1:c.15440-9C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011508340.1:n.15440-9C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS077303"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 15686,
          "endIntronDirection": "-",
          "endIntronOffset": 8,
          "referenceAllele": "C",
          "start": 15686,
          "startIntronDirection": "-",
          "startIntronOffset": 9
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019194",
      "geneNCBI_id": 83872,
      "geneSymbol": "HMCN1",
      "hgvs": [
        "XM_011510038.3:c.15440-9C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011508340.1:n.15440-9C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS541549"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 13618,
          "endIntronDirection": "-",
          "endIntronOffset": 8,
          "referenceAllele": "C",
          "start": 13618,
          "startIntronDirection": "-",
          "startIntronOffset": 9
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019194",
      "geneNCBI_id": 83872,
      "geneSymbol": "HMCN1",
      "hgvs": [
        "XM_017002437.1:c.13463-9C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_016857926.1:n.13463-9C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS558392"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 15828,
          "endIntronDirection": "-",
          "endIntronOffset": 8,
          "referenceAllele": "C",
          "start": 15828,
          "startIntronDirection": "-",
          "startIntronOffset": 9
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019194",
      "geneNCBI_id": 83872,
      "geneSymbol": "HMCN1",
      "hgvs": [
        "NM_031935.3:c.15440-9C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_114141.2:n.15440-9C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS671160",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000271588.9:c.15440-9C>T"
          },
          "RefSeq": {
            "hgvs": "NM_031935.3:c.15440-9C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000271588.4:n.15440-9C>T"
          },
          "RefSeq": {
            "hgvs": "NP_114141.2:n.15440-9C>T"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}