{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA343870892",
  "communityStandardTitle": [
    "NM_031935.3(HMCN1):c.3560G>C (p.Arg1187Thr)"
  ],
  "externalRecords": {
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr1:g.185964001G>C?assembly=hg19",
        "id": "chr1:g.185964001G>C"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr1:g.185994869G>C?assembly=hg38",
        "id": "chr1:g.185994869G>C"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "1",
      "coordinates": [
        {
          "allele": "C",
          "end": 185994869,
          "referenceAllele": "G",
          "start": 185994868
        }
      ],
      "hgvs": [
        "NC_000001.11:g.185994869G>C",
        "CM000663.2:g.185994869G>C"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000049"
    },
    {
      "chromosome": "1",
      "coordinates": [
        {
          "allele": "C",
          "end": 185964001,
          "referenceAllele": "G",
          "start": 185964000
        }
      ],
      "hgvs": [
        "NC_000001.10:g.185964001G>C",
        "CM000663.1:g.185964001G>C"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000025"
    },
    {
      "chromosome": "1",
      "coordinates": [
        {
          "allele": "C",
          "end": 184230624,
          "referenceAllele": "G",
          "start": 184230623
        }
      ],
      "hgvs": [
        "NC_000001.9:g.184230624G>C"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000001"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 265319,
          "referenceAllele": "G",
          "start": 265318
        }
      ],
      "hgvs": [
        "NG_011841.1:g.265319G>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS002021"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 3949,
          "referenceAllele": "G",
          "start": 3948
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019194",
      "geneNCBI_id": 83872,
      "geneSymbol": "HMCN1",
      "hgvs": [
        "ENST00000271588.9:c.3560G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000271588.4:p.Arg1187Thr",
        "hgvsWellDefined": "ENSP00000271588.4:p.Arg1187Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS743201",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000271588.9:c.3560G>C"
          },
          "RefSeq": {
            "hgvs": "NM_031935.3:c.3560G>C"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000271588.4:p.Arg1187Thr"
          },
          "RefSeq": {
            "hgvs": "NP_114141.2:p.Arg1187Thr"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 3789,
          "referenceAllele": "G",
          "start": 3788
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019194",
      "geneNCBI_id": 83872,
      "geneSymbol": "HMCN1",
      "hgvs": [
        "ENST00000271588.8:c.3560G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000271588.4:p.Arg1187Thr",
        "hgvsWellDefined": "ENSP00000271588.4:p.Arg1187Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS252307"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 3789,
          "referenceAllele": "G",
          "start": 3788
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019194",
      "geneNCBI_id": 83872,
      "geneSymbol": "HMCN1",
      "hgvs": [
        "NM_031935.2:c.3560G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_114141.2:p.Arg1187Thr",
        "hgvsWellDefined": "NP_114141.2:p.Arg1187Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS038745"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 3951,
          "referenceAllele": "G",
          "start": 3950
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019194",
      "geneNCBI_id": 83872,
      "geneSymbol": "HMCN1",
      "hgvs": [
        "XM_011510037.1:c.3560G>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011508339.1:p.Arg1187Thr",
        "hgvsWellDefined": "XP_011508339.1:p.Arg1187Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS077302"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 3950,
          "referenceAllele": "G",
          "start": 3949
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019194",
      "geneNCBI_id": 83872,
      "geneSymbol": "HMCN1",
      "hgvs": [
        "XM_011510038.1:c.3560G>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011508340.1:p.Arg1187Thr",
        "hgvsWellDefined": "XP_011508340.1:p.Arg1187Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS077303"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 3954,
          "referenceAllele": "G",
          "start": 3953
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019194",
      "geneNCBI_id": 83872,
      "geneSymbol": "HMCN1",
      "hgvs": [
        "XM_011510039.1:c.3560G>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011508341.1:p.Arg1187Thr",
        "hgvsWellDefined": "XP_011508341.1:p.Arg1187Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS077304"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 3958,
          "referenceAllele": "G",
          "start": 3957
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019194",
      "geneNCBI_id": 83872,
      "geneSymbol": "HMCN1",
      "hgvs": [
        "XM_011510040.1:c.3560G>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011508342.1:p.Arg1187Thr",
        "hgvsWellDefined": "XP_011508342.1:p.Arg1187Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS077305"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 3959,
          "referenceAllele": "G",
          "start": 3958
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019194",
      "geneNCBI_id": 83872,
      "geneSymbol": "HMCN1",
      "hgvs": [
        "XM_011510041.1:c.3560G>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011508343.1:p.Arg1187Thr",
        "hgvsWellDefined": "XP_011508343.1:p.Arg1187Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS077306"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 3807,
          "referenceAllele": "G",
          "start": 3806
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019194",
      "geneNCBI_id": 83872,
      "geneSymbol": "HMCN1",
      "hgvs": [
        "XM_011510038.3:c.3560G>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011508340.1:p.Arg1187Thr",
        "hgvsWellDefined": "XP_011508340.1:p.Arg1187Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS541549"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 3815,
          "referenceAllele": "G",
          "start": 3814
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019194",
      "geneNCBI_id": 83872,
      "geneSymbol": "HMCN1",
      "hgvs": [
        "XM_011510041.3:c.3560G>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011508343.1:p.Arg1187Thr",
        "hgvsWellDefined": "XP_011508343.1:p.Arg1187Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS541550"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1739,
          "referenceAllele": "G",
          "start": 1738
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019194",
      "geneNCBI_id": 83872,
      "geneSymbol": "HMCN1",
      "hgvs": [
        "XM_017002437.1:c.1583G>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_016857926.1:p.Arg528Thr",
        "hgvsWellDefined": "XP_016857926.1:p.Arg528Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS558392"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 3813,
          "referenceAllele": "G",
          "start": 3812
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019194",
      "geneNCBI_id": 83872,
      "geneSymbol": "HMCN1",
      "hgvs": [
        "XM_024450118.1:c.3560G>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_024305886.1:p.Arg1187Thr",
        "hgvsWellDefined": "XP_024305886.1:p.Arg1187Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS583659"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 3949,
          "referenceAllele": "G",
          "start": 3948
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019194",
      "geneNCBI_id": 83872,
      "geneSymbol": "HMCN1",
      "hgvs": [
        "NM_031935.3:c.3560G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_114141.2:p.Arg1187Thr",
        "hgvsWellDefined": "NP_114141.2:p.Arg1187Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS671160",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000271588.9:c.3560G>C"
          },
          "RefSeq": {
            "hgvs": "NM_031935.3:c.3560G>C"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000271588.4:p.Arg1187Thr"
          },
          "RefSeq": {
            "hgvs": "NP_114141.2:p.Arg1187Thr"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}