{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA16041736",
  "communityStandardTitle": [
    "NM_000520.6(HEXA):c.806-1G>C"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=358306[alleleid]",
        "alleleId": 358306,
        "preferredName": "NM_000520.6(HEXA):c.806-1G>C"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/370974",
        "RCV": [
          "RCV000411061"
        ],
        "variationId": 370974
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr15:g.72641601C>G?assembly=hg19",
        "id": "chr15:g.72641601C>G"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr15:g.72349260C>G?assembly=hg38",
        "id": "chr15:g.72349260C>G"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/1057516908",
        "rs": 1057516908
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "15",
      "coordinates": [
        {
          "allele": "G",
          "end": 72349260,
          "referenceAllele": "C",
          "start": 72349259
        }
      ],
      "hgvs": [
        "NC_000015.10:g.72349260C>G",
        "CM000677.2:g.72349260C>G"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000063"
    },
    {
      "chromosome": "15",
      "coordinates": [
        {
          "allele": "G",
          "end": 72641601,
          "referenceAllele": "C",
          "start": 72641600
        }
      ],
      "hgvs": [
        "NC_000015.9:g.72641601C>G",
        "CM000677.1:g.72641601C>G"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000039"
    },
    {
      "chromosome": "15",
      "coordinates": [
        {
          "allele": "G",
          "end": 70428655,
          "referenceAllele": "C",
          "start": 70428654
        }
      ],
      "hgvs": [
        "NC_000015.8:g.70428655C>G"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000015"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 31920,
          "referenceAllele": "G",
          "start": 31919
        }
      ],
      "hgvs": [
        "NG_009017.1:g.31920G>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001382"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 31920,
          "referenceAllele": "G",
          "start": 31919
        }
      ],
      "hgvs": [
        "NG_009017.2:g.31920G>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS673515"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 3151,
          "endIntronDirection": "-",
          "endIntronOffset": 0,
          "referenceAllele": "G",
          "start": 3151,
          "startIntronDirection": "-",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004878",
      "geneNCBI_id": 3073,
      "geneSymbol": "HEXA",
      "hgvs": [
        "ENST00000563908.2:n.3152-1G>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS826099"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 836,
          "endIntronDirection": "-",
          "endIntronOffset": 0,
          "referenceAllele": "G",
          "start": 836,
          "startIntronDirection": "-",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004878",
      "geneNCBI_id": 3073,
      "geneSymbol": "HEXA",
      "hgvs": [
        "ENST00000567027.6:c.806-1G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000457521.2:n.806-1G>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS826127"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 889,
          "endIntronDirection": "-",
          "endIntronOffset": 0,
          "referenceAllele": "G",
          "start": 889,
          "startIntronDirection": "-",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004878",
      "geneNCBI_id": 3073,
      "geneSymbol": "HEXA",
      "hgvs": [
        "ENST00000682061.1:c.*468-1G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000508316.1:n.*468-1G>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS827059"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 848,
          "endIntronDirection": "-",
          "endIntronOffset": 0,
          "referenceAllele": "G",
          "start": 848,
          "startIntronDirection": "-",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004878",
      "geneNCBI_id": 3073,
      "geneSymbol": "HEXA",
      "hgvs": [
        "ENST00000682177.1:c.849-1G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000507409.1:n.849-1G>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS827174"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 911,
          "endIntronDirection": "-",
          "endIntronOffset": 0,
          "referenceAllele": "G",
          "start": 911,
          "startIntronDirection": "-",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004878",
      "geneNCBI_id": 3073,
      "geneSymbol": "HEXA",
      "hgvs": [
        "ENST00000682461.1:c.912-1G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000507308.1:n.912-1G>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS827451"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 836,
          "endIntronDirection": "-",
          "endIntronOffset": 0,
          "referenceAllele": "G",
          "start": 836,
          "startIntronDirection": "-",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004878",
      "geneNCBI_id": 3073,
      "geneSymbol": "HEXA",
      "hgvs": [
        "ENST00000682653.1:n.837-1G>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS827642"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 507,
          "endIntronDirection": "-",
          "endIntronOffset": 0,
          "referenceAllele": "G",
          "start": 507,
          "startIntronDirection": "-",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004878",
      "geneNCBI_id": 3073,
      "geneSymbol": "HEXA",
      "hgvs": [
        "ENST00000682657.1:c.*216-1G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000507753.1:n.*216-1G>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS827646"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 914,
          "endIntronDirection": "-",
          "endIntronOffset": 0,
          "referenceAllele": "G",
          "start": 914,
          "startIntronDirection": "-",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004878",
      "geneNCBI_id": 3073,
      "geneSymbol": "HEXA",
      "hgvs": [
        "ENST00000682721.1:c.*609-1G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000507535.1:n.*609-1G>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS827710"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1070,
          "endIntronDirection": "-",
          "endIntronOffset": 0,
          "referenceAllele": "G",
          "start": 1070,
          "startIntronDirection": "-",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004878",
      "geneNCBI_id": 3073,
      "geneSymbol": "HEXA",
      "hgvs": [
        "ENST00000682843.1:c.*704-1G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000508173.1:n.*704-1G>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS827831"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 668,
          "endIntronDirection": "-",
          "endIntronOffset": 0,
          "referenceAllele": "G",
          "start": 668,
          "startIntronDirection": "-",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004878",
      "geneNCBI_id": 3073,
      "geneSymbol": "HEXA",
      "hgvs": [
        "ENST00000683003.1:c.*216-1G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000507576.1:n.*216-1G>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS827990"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 989,
          "endIntronDirection": "-",
          "endIntronOffset": 0,
          "referenceAllele": "G",
          "start": 989,
          "startIntronDirection": "-",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004878",
      "geneNCBI_id": 3073,
      "geneSymbol": "HEXA",
      "hgvs": [
        "ENST00000683133.1:c.990-1G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000508108.1:n.990-1G>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS828118"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 836,
          "endIntronDirection": "-",
          "endIntronOffset": 0,
          "referenceAllele": "G",
          "start": 836,
          "startIntronDirection": "-",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004878",
      "geneNCBI_id": 3073,
      "geneSymbol": "HEXA",
      "hgvs": [
        "ENST00000683228.1:n.837-1G>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS828210"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 666,
          "endIntronDirection": "-",
          "endIntronOffset": 0,
          "referenceAllele": "G",
          "start": 666,
          "startIntronDirection": "-",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004878",
      "geneNCBI_id": 3073,
      "geneSymbol": "HEXA",
      "hgvs": [
        "ENST00000683243.1:c.*216-1G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000507042.1:n.*216-1G>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS828225"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 836,
          "endIntronDirection": "-",
          "endIntronOffset": 0,
          "referenceAllele": "G",
          "start": 836,
          "startIntronDirection": "-",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004878",
      "geneNCBI_id": 3073,
      "geneSymbol": "HEXA",
      "hgvs": [
        "ENST00000683463.1:c.806-1G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000507986.1:n.806-1G>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS828439"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 836,
          "endIntronDirection": "-",
          "endIntronOffset": 0,
          "referenceAllele": "G",
          "start": 836,
          "startIntronDirection": "-",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004878",
      "geneNCBI_id": 3073,
      "geneSymbol": "HEXA",
      "hgvs": [
        "ENST00000683548.1:n.837-1G>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS828521"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1077,
          "endIntronDirection": "-",
          "endIntronOffset": 0,
          "referenceAllele": "G",
          "start": 1077,
          "startIntronDirection": "-",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004878",
      "geneNCBI_id": 3073,
      "geneSymbol": "HEXA",
      "hgvs": [
        "ENST00000683579.1:c.*704-1G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000506867.1:n.*704-1G>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS828552"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 836,
          "endIntronDirection": "-",
          "endIntronOffset": 0,
          "referenceAllele": "G",
          "start": 836,
          "startIntronDirection": "-",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004878",
      "geneNCBI_id": 3073,
      "geneSymbol": "HEXA",
      "hgvs": [
        "ENST00000683587.1:n.837-1G>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS828560"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 842,
          "endIntronDirection": "-",
          "endIntronOffset": 0,
          "referenceAllele": "G",
          "start": 842,
          "startIntronDirection": "-",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004878",
      "geneNCBI_id": 3073,
      "geneSymbol": "HEXA",
      "hgvs": [
        "ENST00000683681.1:c.806-1G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000508110.1:n.806-1G>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS828652"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1086,
          "endIntronDirection": "-",
          "endIntronOffset": 0,
          "referenceAllele": "G",
          "start": 1086,
          "startIntronDirection": "-",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004878",
      "geneNCBI_id": 3073,
      "geneSymbol": "HEXA",
      "hgvs": [
        "ENST00000683735.1:c.*704-1G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000508336.1:n.*704-1G>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS828706"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 636,
          "endIntronDirection": "-",
          "endIntronOffset": 0,
          "referenceAllele": "G",
          "start": 636,
          "startIntronDirection": "-",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004878",
      "geneNCBI_id": 3073,
      "geneSymbol": "HEXA",
      "hgvs": [
        "ENST00000683742.1:n.637-1G>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS828713"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 836,
          "endIntronDirection": "-",
          "endIntronOffset": 0,
          "referenceAllele": "G",
          "start": 836,
          "startIntronDirection": "-",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004878",
      "geneNCBI_id": 3073,
      "geneSymbol": "HEXA",
      "hgvs": [
        "ENST00000683853.1:c.806-1G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000506834.1:n.806-1G>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS828820"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 842,
          "endIntronDirection": "-",
          "endIntronOffset": 0,
          "referenceAllele": "G",
          "start": 842,
          "startIntronDirection": "-",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004878",
      "geneNCBI_id": 3073,
      "geneSymbol": "HEXA",
      "hgvs": [
        "ENST00000683860.1:c.806-1G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000507179.1:n.806-1G>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS828827"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 836,
          "endIntronDirection": "-",
          "endIntronOffset": 0,
          "referenceAllele": "G",
          "start": 836,
          "startIntronDirection": "-",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004878",
      "geneNCBI_id": 3073,
      "geneSymbol": "HEXA",
      "hgvs": [
        "ENST00000683884.1:c.806-1G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000507004.1:n.806-1G>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS828851"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 842,
          "endIntronDirection": "-",
          "endIntronOffset": 0,
          "referenceAllele": "G",
          "start": 842,
          "startIntronDirection": "-",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004878",
      "geneNCBI_id": 3073,
      "geneSymbol": "HEXA",
      "hgvs": [
        "ENST00000684041.1:c.806-1G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000508382.1:n.806-1G>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS829002"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 836,
          "endIntronDirection": "-",
          "endIntronOffset": 0,
          "referenceAllele": "G",
          "start": 836,
          "startIntronDirection": "-",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004878",
      "geneNCBI_id": 3073,
      "geneSymbol": "HEXA",
      "hgvs": [
        "ENST00000684125.1:c.806-1G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000507320.1:n.806-1G>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS829083"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2643,
          "endIntronDirection": "-",
          "endIntronOffset": 0,
          "referenceAllele": "G",
          "start": 2643,
          "startIntronDirection": "-",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004878",
      "geneNCBI_id": 3073,
      "geneSymbol": "HEXA",
      "hgvs": [
        "ENST00000684203.1:n.2644-1G>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS829160"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 667,
          "endIntronDirection": "-",
          "endIntronOffset": 0,
          "referenceAllele": "G",
          "start": 667,
          "startIntronDirection": "-",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004878",
      "geneNCBI_id": 3073,
      "geneSymbol": "HEXA",
      "hgvs": [
        "ENST00000684231.1:c.*216-1G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000507748.1:n.*216-1G>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS829188"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 836,
          "endIntronDirection": "-",
          "endIntronOffset": 0,
          "referenceAllele": "G",
          "start": 836,
          "startIntronDirection": "-",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004878",
      "geneNCBI_id": 3073,
      "geneSymbol": "HEXA",
      "hgvs": [
        "ENST00000684263.1:c.806-1G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000508369.1:n.806-1G>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS829220"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1253,
          "endIntronDirection": "-",
          "endIntronOffset": 0,
          "referenceAllele": "G",
          "start": 1253,
          "startIntronDirection": "-",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004878",
      "geneNCBI_id": 3073,
      "geneSymbol": "HEXA",
      "hgvs": [
        "ENST00000684305.1:c.1254-1G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000506819.1:n.1254-1G>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS829261"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 836,
          "endIntronDirection": "-",
          "endIntronOffset": 0,
          "referenceAllele": "G",
          "start": 836,
          "startIntronDirection": "-",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004878",
      "geneNCBI_id": 3073,
      "geneSymbol": "HEXA",
      "hgvs": [
        "ENST00000684415.1:c.806-1G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000507227.1:n.806-1G>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS829370"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 842,
          "endIntronDirection": "-",
          "endIntronOffset": 0,
          "referenceAllele": "G",
          "start": 842,
          "startIntronDirection": "-",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004878",
      "geneNCBI_id": 3073,
      "geneSymbol": "HEXA",
      "hgvs": [
        "ENST00000684520.1:c.806-1G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000506826.1:n.806-1G>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS829473"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 755,
          "endIntronDirection": "-",
          "endIntronOffset": 0,
          "referenceAllele": "G",
          "start": 755,
          "startIntronDirection": "-",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004878",
      "geneNCBI_id": 3073,
      "geneSymbol": "HEXA",
      "hgvs": [
        "ENST00000684602.1:c.*472-1G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000507996.1:n.*472-1G>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS829554"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1136,
          "endIntronDirection": "-",
          "endIntronOffset": 0,
          "referenceAllele": "G",
          "start": 1136,
          "startIntronDirection": "-",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004878",
      "geneNCBI_id": 3073,
      "geneSymbol": "HEXA",
      "hgvs": [
        "ENST00000684667.1:c.1137-1G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000507003.1:n.1137-1G>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS829618"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 847,
          "endIntronDirection": "-",
          "endIntronOffset": 0,
          "referenceAllele": "G",
          "start": 847,
          "startIntronDirection": "-",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004878",
      "geneNCBI_id": 3073,
      "geneSymbol": "HEXA",
      "hgvs": [
        "ENST00000268097.10:c.806-1G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000268097.6:n.806-1G>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS743027",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000268097.10:c.806-1G>C"
          },
          "RefSeq": {
            "hgvs": "NM_000520.6:c.806-1G>C"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000268097.6:n.806-1G>C"
          },
          "RefSeq": {
            "hgvs": "NP_000511.2:n.806-1G>C"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1309,
          "endIntronDirection": "-",
          "endIntronOffset": 0,
          "referenceAllele": "G",
          "start": 1309,
          "startIntronDirection": "-",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004878",
      "geneNCBI_id": 3073,
      "geneSymbol": "HEXA",
      "hgvs": [
        "ENST00000268097.9:c.806-1G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000268097.5:n.806-1G>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS252048"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 421,
          "endIntronDirection": "-",
          "endIntronOffset": 2934,
          "referenceAllele": "G",
          "start": 421,
          "startIntronDirection": "-",
          "startIntronOffset": 2935
        }
      ],
      "hgvs": [
        "ENST00000379915.4:c.413-2935G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000478716.1:n.413-2935G>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS272694"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 738,
          "endIntronDirection": "-",
          "endIntronOffset": 1125,
          "referenceAllele": "G",
          "start": 738,
          "startIntronDirection": "-",
          "startIntronOffset": 1126
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004878",
      "geneNCBI_id": 3073,
      "geneSymbol": "HEXA",
      "hgvs": [
        "ENST00000563762.5:c.739-1126G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000456346.1:n.739-1126G>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS377635"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 859,
          "endIntronDirection": "-",
          "endIntronOffset": 0,
          "referenceAllele": "G",
          "start": 859,
          "startIntronDirection": "-",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004878",
      "geneNCBI_id": 3073,
      "geneSymbol": "HEXA",
      "hgvs": [
        "ENST00000566304.5:c.839-1G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000455114.1:n.839-1G>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS379341"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 678,
          "endIntronDirection": "-",
          "endIntronOffset": 0,
          "referenceAllele": "G",
          "start": 678,
          "startIntronDirection": "-",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004878",
      "geneNCBI_id": 3073,
      "geneSymbol": "HEXA",
      "hgvs": [
        "ENST00000566672.5:c.*216-1G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000457037.1:n.*216-1G>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS379607"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 677,
          "endIntronDirection": "-",
          "endIntronOffset": 0,
          "referenceAllele": "G",
          "start": 677,
          "startIntronDirection": "-",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004878",
      "geneNCBI_id": 3073,
      "geneSymbol": "HEXA",
      "hgvs": [
        "ENST00000567027.5:c.678-1G>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS379842"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 826,
          "endIntronDirection": "-",
          "endIntronOffset": 0,
          "referenceAllele": "G",
          "start": 826,
          "startIntronDirection": "-",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004878",
      "geneNCBI_id": 3073,
      "geneSymbol": "HEXA",
      "hgvs": [
        "ENST00000567159.5:c.806-1G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000456489.1:n.806-1G>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS379928"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 789,
          "endIntronDirection": "-",
          "endIntronOffset": 0,
          "referenceAllele": "G",
          "start": 789,
          "startIntronDirection": "-",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004878",
      "geneNCBI_id": 3073,
      "geneSymbol": "HEXA",
      "hgvs": [
        "ENST00000567411.5:c.*327-1G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000455545.1:n.*327-1G>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS380095"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 6209,
          "endIntronDirection": "-",
          "endIntronOffset": 0,
          "referenceAllele": "G",
          "start": 6209,
          "startIntronDirection": "-",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004878",
      "geneNCBI_id": 3073,
      "geneSymbol": "HEXA",
      "hgvs": [
        "ENST00000568777.5:n.6210-1G>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS381014"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 808,
          "endIntronDirection": "-",
          "endIntronOffset": 0,
          "referenceAllele": "G",
          "start": 808,
          "startIntronDirection": "-",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004878",
      "geneNCBI_id": 3073,
      "geneSymbol": "HEXA",
      "hgvs": [
        "ENST00000569410.5:c.806-1G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000457125.1:n.806-1G>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS381456"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1012,
          "endIntronDirection": "-",
          "endIntronOffset": 0,
          "referenceAllele": "G",
          "start": 1012,
          "startIntronDirection": "-",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004878",
      "geneNCBI_id": 3073,
      "geneSymbol": "HEXA",
      "hgvs": [
        "NM_000520.4:c.806-1G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_000511.2:n.806-1G>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006577"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1306,
          "endIntronDirection": "-",
          "endIntronOffset": 0,
          "referenceAllele": "G",
          "start": 1306,
          "startIntronDirection": "-",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004878",
      "geneNCBI_id": 3073,
      "geneSymbol": "HEXA",
      "hgvs": [
        "NM_000520.5:c.806-1G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_000511.2:n.806-1G>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS510809"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1339,
          "endIntronDirection": "-",
          "endIntronOffset": 0,
          "referenceAllele": "G",
          "start": 1339,
          "startIntronDirection": "-",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004878",
      "geneNCBI_id": 3073,
      "geneSymbol": "HEXA",
      "hgvs": [
        "NM_001318825.1:c.839-1G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001305754.1:n.839-1G>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS513060"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1306,
          "endIntronDirection": "-",
          "endIntronOffset": 0,
          "referenceAllele": "G",
          "start": 1306,
          "startIntronDirection": "-",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004878",
      "geneNCBI_id": 3073,
      "geneSymbol": "HEXA",
      "hgvs": [
        "NR_134869.1:n.1307-1G>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS527809"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 847,
          "endIntronDirection": "-",
          "endIntronOffset": 0,
          "referenceAllele": "G",
          "start": 847,
          "startIntronDirection": "-",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004878",
      "geneNCBI_id": 3073,
      "geneSymbol": "HEXA",
      "hgvs": [
        "NM_000520.6:c.806-1G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_000511.2:n.806-1G>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS674877",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000268097.10:c.806-1G>C"
          },
          "RefSeq": {
            "hgvs": "NM_000520.6:c.806-1G>C"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000268097.6:n.806-1G>C"
          },
          "RefSeq": {
            "hgvs": "NP_000511.2:n.806-1G>C"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 880,
          "endIntronDirection": "-",
          "endIntronOffset": 0,
          "referenceAllele": "G",
          "start": 880,
          "startIntronDirection": "-",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004878",
      "geneNCBI_id": 3073,
      "geneSymbol": "HEXA",
      "hgvs": [
        "NM_001318825.2:c.839-1G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001305754.1:n.839-1G>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS684622"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 847,
          "endIntronDirection": "-",
          "endIntronOffset": 0,
          "referenceAllele": "G",
          "start": 847,
          "startIntronDirection": "-",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004878",
      "geneNCBI_id": 3073,
      "geneSymbol": "HEXA",
      "hgvs": [
        "NR_134869.2:n.848-1G>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS703516"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 847,
          "endIntronDirection": "-",
          "endIntronOffset": 0,
          "referenceAllele": "G",
          "start": 847,
          "startIntronDirection": "-",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004878",
      "geneNCBI_id": 3073,
      "geneSymbol": "HEXA",
      "hgvs": [
        "NR_134869.3:n.848-1G>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS730887"
    }
  ],
  "type": "nucleotide"
}