{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA2176326657",
  "communityStandardTitle": [
    "NM_002112.4(HDC):c.1657T= (p.Phe553=)"
  ],
  "externalRecords": {
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/16963486",
        "rs": 16963486
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "15",
      "coordinates": [
        {
          "allele": "A",
          "end": 50242592,
          "referenceAllele": "A",
          "start": 50242591
        }
      ],
      "hgvs": [
        "NC_000015.10:g.50242592A=",
        "CM000677.2:g.50242592A="
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000063"
    },
    {
      "chromosome": "15",
      "coordinates": [
        {
          "allele": "A",
          "end": 50534789,
          "referenceAllele": "A",
          "start": 50534788
        }
      ],
      "hgvs": [
        "NC_000015.9:g.50534789A=",
        "CM000677.1:g.50534789A="
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000039"
    },
    {
      "chromosome": "15",
      "coordinates": [
        {
          "allele": "A",
          "end": 48322081,
          "referenceAllele": "A",
          "start": 48322080
        }
      ],
      "hgvs": [
        "NC_000015.8:g.48322081A="
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000015"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 28374,
          "referenceAllele": "T",
          "start": 28373
        }
      ],
      "hgvs": [
        "NG_027487.1:g.28374T="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS003877"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1760,
          "referenceAllele": "T",
          "start": 1759
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004855",
      "geneNCBI_id": 3067,
      "geneSymbol": "HDC",
      "hgvs": [
        "ENST00000267845.8:c.1657T="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000267845.3:p.Phe553="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS743008",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000267845.8:c.1657T="
          },
          "RefSeq": {
            "hgvs": "NM_002112.4:c.1657T="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000267845.3:p.Phe553="
          },
          "RefSeq": {
            "hgvs": "NP_002103.2:p.Phe553="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2060,
          "referenceAllele": "T",
          "start": 2059
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004855",
      "geneNCBI_id": 3067,
      "geneSymbol": "HDC",
      "hgvs": [
        "ENST00000267845.7:c.1657T="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000267845.3:p.Phe553="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS252021"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1601,
          "referenceAllele": "T",
          "start": 1600
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004855",
      "geneNCBI_id": 3067,
      "geneSymbol": "HDC",
      "hgvs": [
        "ENST00000543581.5:c.1558T="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000440252.1:p.Phe520="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS364081"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1401,
          "referenceAllele": "T",
          "start": 1400
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004855",
      "geneNCBI_id": 3067,
      "geneSymbol": "HDC",
      "hgvs": [
        "ENST00000559816.1:n.1401T="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS374883"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1900,
          "referenceAllele": "T",
          "start": 1899
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004855",
      "geneNCBI_id": 3067,
      "geneSymbol": "HDC",
      "hgvs": [
        "NM_001306146.1:c.1558T="
      ],
      "proteinEffect": {
        "hgvs": "NP_001293075.1:p.Phe520="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS025999"
    },
    {
      "@id": "http://reg.genome.network/allele/PA3081910465",
      "coordinates": [
        {
          "allele": "T",
          "end": 1999,
          "referenceAllele": "T",
          "start": 1998
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004855",
      "geneNCBI_id": 3067,
      "geneSymbol": "HDC",
      "hgvs": [
        "NM_002112.3:c.1657T="
      ],
      "proteinEffect": {
        "hgvs": "NP_002103.2:p.Phe553="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS027437"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1888,
          "referenceAllele": "T",
          "start": 1887
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004855",
      "geneNCBI_id": 3067,
      "geneSymbol": "HDC",
      "hgvs": [
        "XM_011521479.1:c.1420T="
      ],
      "proteinEffect": {
        "hgvs": "XP_011519781.1:p.Phe474="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS088639"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1431,
          "referenceAllele": "T",
          "start": 1430
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004855",
      "geneNCBI_id": 3067,
      "geneSymbol": "HDC",
      "hgvs": [
        "XM_011521480.1:c.1225T="
      ],
      "proteinEffect": {
        "hgvs": "XP_011519782.1:p.Phe409="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS088640"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1868,
          "referenceAllele": "T",
          "start": 1867
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004855",
      "geneNCBI_id": 3067,
      "geneSymbol": "HDC",
      "hgvs": [
        "XM_017022094.1:c.1762T="
      ],
      "proteinEffect": {
        "hgvs": "XP_016877583.1:p.Phe588="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS573141"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1769,
          "referenceAllele": "T",
          "start": 1768
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004855",
      "geneNCBI_id": 3067,
      "geneSymbol": "HDC",
      "hgvs": [
        "XM_017022095.1:c.1663T="
      ],
      "proteinEffect": {
        "hgvs": "XP_016877584.1:p.Phe555="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS573142"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1653,
          "referenceAllele": "T",
          "start": 1652
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004855",
      "geneNCBI_id": 3067,
      "geneSymbol": "HDC",
      "hgvs": [
        "XM_017022096.1:c.1534T="
      ],
      "proteinEffect": {
        "hgvs": "XP_016877585.1:p.Phe512="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS573143"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1951,
          "referenceAllele": "T",
          "start": 1950
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004855",
      "geneNCBI_id": 3067,
      "geneSymbol": "HDC",
      "hgvs": [
        "XM_017022097.1:c.1525T="
      ],
      "proteinEffect": {
        "hgvs": "XP_016877586.1:p.Phe509="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS573144"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1471,
          "referenceAllele": "T",
          "start": 1470
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004855",
      "geneNCBI_id": 3067,
      "geneSymbol": "HDC",
      "hgvs": [
        "XM_017022098.1:c.1330T="
      ],
      "proteinEffect": {
        "hgvs": "XP_016877587.1:p.Phe444="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS573145"
    },
    {
      "@id": "http://reg.genome.network/allele/PA3081910465",
      "coordinates": [
        {
          "allele": "T",
          "end": 1760,
          "referenceAllele": "T",
          "start": 1759
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004855",
      "geneNCBI_id": 3067,
      "geneSymbol": "HDC",
      "hgvs": [
        "NM_002112.4:c.1657T="
      ],
      "proteinEffect": {
        "hgvs": "NP_002103.2:p.Phe553="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS665356",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000267845.8:c.1657T="
          },
          "RefSeq": {
            "hgvs": "NM_002112.4:c.1657T="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000267845.3:p.Phe553="
          },
          "RefSeq": {
            "hgvs": "NP_002103.2:p.Phe553="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1661,
          "referenceAllele": "T",
          "start": 1660
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004855",
      "geneNCBI_id": 3067,
      "geneSymbol": "HDC",
      "hgvs": [
        "NM_001306146.2:c.1558T="
      ],
      "proteinEffect": {
        "hgvs": "NP_001293075.1:p.Phe520="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS683854"
    }
  ],
  "type": "nucleotide"
}