{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA343870913",
  "communityStandardTitle": [
    "NM_031935.3(HMCN1):c.3563T>G (p.Val1188Gly)"
  ],
  "externalRecords": {
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr1:g.185964004T>G?assembly=hg19",
        "id": "chr1:g.185964004T>G"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr1:g.185994872T>G?assembly=hg38",
        "id": "chr1:g.185994872T>G"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "1",
      "coordinates": [
        {
          "allele": "G",
          "end": 185994872,
          "referenceAllele": "T",
          "start": 185994871
        }
      ],
      "hgvs": [
        "NC_000001.11:g.185994872T>G",
        "CM000663.2:g.185994872T>G"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000049"
    },
    {
      "chromosome": "1",
      "coordinates": [
        {
          "allele": "G",
          "end": 185964004,
          "referenceAllele": "T",
          "start": 185964003
        }
      ],
      "hgvs": [
        "NC_000001.10:g.185964004T>G",
        "CM000663.1:g.185964004T>G"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000025"
    },
    {
      "chromosome": "1",
      "coordinates": [
        {
          "allele": "G",
          "end": 184230627,
          "referenceAllele": "T",
          "start": 184230626
        }
      ],
      "hgvs": [
        "NC_000001.9:g.184230627T>G"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000001"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 265322,
          "referenceAllele": "T",
          "start": 265321
        }
      ],
      "hgvs": [
        "NG_011841.1:g.265322T>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS002021"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3952,
          "referenceAllele": "T",
          "start": 3951
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019194",
      "geneNCBI_id": 83872,
      "geneSymbol": "HMCN1",
      "hgvs": [
        "ENST00000271588.9:c.3563T>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000271588.4:p.Val1188Gly",
        "hgvsWellDefined": "ENSP00000271588.4:p.Val1188Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS743201",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000271588.9:c.3563T>G"
          },
          "RefSeq": {
            "hgvs": "NM_031935.3:c.3563T>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000271588.4:p.Val1188Gly"
          },
          "RefSeq": {
            "hgvs": "NP_114141.2:p.Val1188Gly"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3792,
          "referenceAllele": "T",
          "start": 3791
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019194",
      "geneNCBI_id": 83872,
      "geneSymbol": "HMCN1",
      "hgvs": [
        "ENST00000271588.8:c.3563T>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000271588.4:p.Val1188Gly",
        "hgvsWellDefined": "ENSP00000271588.4:p.Val1188Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS252307"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3792,
          "referenceAllele": "T",
          "start": 3791
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019194",
      "geneNCBI_id": 83872,
      "geneSymbol": "HMCN1",
      "hgvs": [
        "NM_031935.2:c.3563T>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_114141.2:p.Val1188Gly",
        "hgvsWellDefined": "NP_114141.2:p.Val1188Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS038745"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3954,
          "referenceAllele": "T",
          "start": 3953
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019194",
      "geneNCBI_id": 83872,
      "geneSymbol": "HMCN1",
      "hgvs": [
        "XM_011510037.1:c.3563T>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011508339.1:p.Val1188Gly",
        "hgvsWellDefined": "XP_011508339.1:p.Val1188Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS077302"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3953,
          "referenceAllele": "T",
          "start": 3952
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019194",
      "geneNCBI_id": 83872,
      "geneSymbol": "HMCN1",
      "hgvs": [
        "XM_011510038.1:c.3563T>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011508340.1:p.Val1188Gly",
        "hgvsWellDefined": "XP_011508340.1:p.Val1188Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS077303"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3957,
          "referenceAllele": "T",
          "start": 3956
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019194",
      "geneNCBI_id": 83872,
      "geneSymbol": "HMCN1",
      "hgvs": [
        "XM_011510039.1:c.3563T>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011508341.1:p.Val1188Gly",
        "hgvsWellDefined": "XP_011508341.1:p.Val1188Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS077304"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3961,
          "referenceAllele": "T",
          "start": 3960
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019194",
      "geneNCBI_id": 83872,
      "geneSymbol": "HMCN1",
      "hgvs": [
        "XM_011510040.1:c.3563T>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011508342.1:p.Val1188Gly",
        "hgvsWellDefined": "XP_011508342.1:p.Val1188Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS077305"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3962,
          "referenceAllele": "T",
          "start": 3961
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019194",
      "geneNCBI_id": 83872,
      "geneSymbol": "HMCN1",
      "hgvs": [
        "XM_011510041.1:c.3563T>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011508343.1:p.Val1188Gly",
        "hgvsWellDefined": "XP_011508343.1:p.Val1188Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS077306"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3810,
          "referenceAllele": "T",
          "start": 3809
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019194",
      "geneNCBI_id": 83872,
      "geneSymbol": "HMCN1",
      "hgvs": [
        "XM_011510038.3:c.3563T>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011508340.1:p.Val1188Gly",
        "hgvsWellDefined": "XP_011508340.1:p.Val1188Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS541549"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3818,
          "referenceAllele": "T",
          "start": 3817
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019194",
      "geneNCBI_id": 83872,
      "geneSymbol": "HMCN1",
      "hgvs": [
        "XM_011510041.3:c.3563T>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011508343.1:p.Val1188Gly",
        "hgvsWellDefined": "XP_011508343.1:p.Val1188Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS541550"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1742,
          "referenceAllele": "T",
          "start": 1741
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019194",
      "geneNCBI_id": 83872,
      "geneSymbol": "HMCN1",
      "hgvs": [
        "XM_017002437.1:c.1586T>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_016857926.1:p.Val529Gly",
        "hgvsWellDefined": "XP_016857926.1:p.Val529Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS558392"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3816,
          "referenceAllele": "T",
          "start": 3815
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019194",
      "geneNCBI_id": 83872,
      "geneSymbol": "HMCN1",
      "hgvs": [
        "XM_024450118.1:c.3563T>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_024305886.1:p.Val1188Gly",
        "hgvsWellDefined": "XP_024305886.1:p.Val1188Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS583659"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3952,
          "referenceAllele": "T",
          "start": 3951
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019194",
      "geneNCBI_id": 83872,
      "geneSymbol": "HMCN1",
      "hgvs": [
        "NM_031935.3:c.3563T>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_114141.2:p.Val1188Gly",
        "hgvsWellDefined": "NP_114141.2:p.Val1188Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS671160",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000271588.9:c.3563T>G"
          },
          "RefSeq": {
            "hgvs": "NM_031935.3:c.3563T>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000271588.4:p.Val1188Gly"
          },
          "RefSeq": {
            "hgvs": "NP_114141.2:p.Val1188Gly"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}