{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA392377347",
  "communityStandardTitle": [
    "NM_002112.4(HDC):c.1659T>A (p.Phe553Leu)"
  ],
  "externalRecords": {
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr15:g.50534787A>T?assembly=hg19",
        "id": "chr15:g.50534787A>T"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr15:g.50242590A>T?assembly=hg38",
        "id": "chr15:g.50242590A>T"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "15",
      "coordinates": [
        {
          "allele": "T",
          "end": 50242590,
          "referenceAllele": "A",
          "start": 50242589
        }
      ],
      "hgvs": [
        "NC_000015.10:g.50242590A>T",
        "CM000677.2:g.50242590A>T"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000063"
    },
    {
      "chromosome": "15",
      "coordinates": [
        {
          "allele": "T",
          "end": 50534787,
          "referenceAllele": "A",
          "start": 50534786
        }
      ],
      "hgvs": [
        "NC_000015.9:g.50534787A>T",
        "CM000677.1:g.50534787A>T"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000039"
    },
    {
      "chromosome": "15",
      "coordinates": [
        {
          "allele": "T",
          "end": 48322079,
          "referenceAllele": "A",
          "start": 48322078
        }
      ],
      "hgvs": [
        "NC_000015.8:g.48322079A>T"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000015"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 28376,
          "referenceAllele": "T",
          "start": 28375
        }
      ],
      "hgvs": [
        "NG_027487.1:g.28376T>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS003877"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1762,
          "referenceAllele": "T",
          "start": 1761
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004855",
      "geneNCBI_id": 3067,
      "geneSymbol": "HDC",
      "hgvs": [
        "ENST00000267845.8:c.1659T>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000267845.3:p.Phe553Leu",
        "hgvsWellDefined": "ENSP00000267845.3:p.Phe553Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS743008",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000267845.8:c.1659T>A"
          },
          "RefSeq": {
            "hgvs": "NM_002112.4:c.1659T>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000267845.3:p.Phe553Leu"
          },
          "RefSeq": {
            "hgvs": "NP_002103.2:p.Phe553Leu"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2062,
          "referenceAllele": "T",
          "start": 2061
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004855",
      "geneNCBI_id": 3067,
      "geneSymbol": "HDC",
      "hgvs": [
        "ENST00000267845.7:c.1659T>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000267845.3:p.Phe553Leu",
        "hgvsWellDefined": "ENSP00000267845.3:p.Phe553Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS252021"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1603,
          "referenceAllele": "T",
          "start": 1602
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004855",
      "geneNCBI_id": 3067,
      "geneSymbol": "HDC",
      "hgvs": [
        "ENST00000543581.5:c.1560T>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000440252.1:p.Phe520Leu",
        "hgvsWellDefined": "ENSP00000440252.1:p.Phe520Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS364081"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1403,
          "referenceAllele": "T",
          "start": 1402
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004855",
      "geneNCBI_id": 3067,
      "geneSymbol": "HDC",
      "hgvs": [
        "ENST00000559816.1:n.1403T>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS374883"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826914362",
      "coordinates": [
        {
          "allele": "A",
          "end": 1902,
          "referenceAllele": "T",
          "start": 1901
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004855",
      "geneNCBI_id": 3067,
      "geneSymbol": "HDC",
      "hgvs": [
        "NM_001306146.1:c.1560T>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001293075.1:p.Phe520Leu",
        "hgvsWellDefined": "NP_001293075.1:p.Phe520Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS025999"
    },
    {
      "@id": "http://reg.genome.network/allele/PA915984595",
      "coordinates": [
        {
          "allele": "A",
          "end": 2001,
          "referenceAllele": "T",
          "start": 2000
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004855",
      "geneNCBI_id": 3067,
      "geneSymbol": "HDC",
      "hgvs": [
        "NM_002112.3:c.1659T>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_002103.2:p.Phe553Leu",
        "hgvsWellDefined": "NP_002103.2:p.Phe553Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS027437"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1890,
          "referenceAllele": "T",
          "start": 1889
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004855",
      "geneNCBI_id": 3067,
      "geneSymbol": "HDC",
      "hgvs": [
        "XM_011521479.1:c.1422T>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011519781.1:p.Phe474Leu",
        "hgvsWellDefined": "XP_011519781.1:p.Phe474Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS088639"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1433,
          "referenceAllele": "T",
          "start": 1432
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004855",
      "geneNCBI_id": 3067,
      "geneSymbol": "HDC",
      "hgvs": [
        "XM_011521480.1:c.1227T>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011519782.1:p.Phe409Leu",
        "hgvsWellDefined": "XP_011519782.1:p.Phe409Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS088640"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1870,
          "referenceAllele": "T",
          "start": 1869
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004855",
      "geneNCBI_id": 3067,
      "geneSymbol": "HDC",
      "hgvs": [
        "XM_017022094.1:c.1764T>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_016877583.1:p.Phe588Leu",
        "hgvsWellDefined": "XP_016877583.1:p.Phe588Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS573141"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1771,
          "referenceAllele": "T",
          "start": 1770
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004855",
      "geneNCBI_id": 3067,
      "geneSymbol": "HDC",
      "hgvs": [
        "XM_017022095.1:c.1665T>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_016877584.1:p.Phe555Leu",
        "hgvsWellDefined": "XP_016877584.1:p.Phe555Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS573142"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1655,
          "referenceAllele": "T",
          "start": 1654
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004855",
      "geneNCBI_id": 3067,
      "geneSymbol": "HDC",
      "hgvs": [
        "XM_017022096.1:c.1536T>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_016877585.1:p.Phe512Leu",
        "hgvsWellDefined": "XP_016877585.1:p.Phe512Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS573143"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1953,
          "referenceAllele": "T",
          "start": 1952
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004855",
      "geneNCBI_id": 3067,
      "geneSymbol": "HDC",
      "hgvs": [
        "XM_017022097.1:c.1527T>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_016877586.1:p.Phe509Leu",
        "hgvsWellDefined": "XP_016877586.1:p.Phe509Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS573144"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1473,
          "referenceAllele": "T",
          "start": 1472
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004855",
      "geneNCBI_id": 3067,
      "geneSymbol": "HDC",
      "hgvs": [
        "XM_017022098.1:c.1332T>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_016877587.1:p.Phe444Leu",
        "hgvsWellDefined": "XP_016877587.1:p.Phe444Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS573145"
    },
    {
      "@id": "http://reg.genome.network/allele/PA915984595",
      "coordinates": [
        {
          "allele": "A",
          "end": 1762,
          "referenceAllele": "T",
          "start": 1761
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004855",
      "geneNCBI_id": 3067,
      "geneSymbol": "HDC",
      "hgvs": [
        "NM_002112.4:c.1659T>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_002103.2:p.Phe553Leu",
        "hgvsWellDefined": "NP_002103.2:p.Phe553Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS665356",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000267845.8:c.1659T>A"
          },
          "RefSeq": {
            "hgvs": "NM_002112.4:c.1659T>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000267845.3:p.Phe553Leu"
          },
          "RefSeq": {
            "hgvs": "NP_002103.2:p.Phe553Leu"
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826914362",
      "coordinates": [
        {
          "allele": "A",
          "end": 1663,
          "referenceAllele": "T",
          "start": 1662
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004855",
      "geneNCBI_id": 3067,
      "geneSymbol": "HDC",
      "hgvs": [
        "NM_001306146.2:c.1560T>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001293075.1:p.Phe520Leu",
        "hgvsWellDefined": "NP_001293075.1:p.Phe520Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS683854"
    }
  ],
  "type": "nucleotide"
}