{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA16044208",
  "communityStandardTitle": [
    "NM_000520.6(HEXA):c.524A>C (p.Asp175Ala)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=362127[alleleid]",
        "alleleId": 362127,
        "preferredName": "NM_000520.6(HEXA):c.524A>C (p.Asp175Ala)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/375353",
        "RCV": [
          "RCV000416473"
        ],
        "variationId": 375353
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr15:g.72645455T>G?assembly=hg19",
        "id": "chr15:g.72645455T>G"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr15:g.72353114T>G?assembly=hg38",
        "id": "chr15:g.72353114T>G"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/1057519460",
        "rs": 1057519460
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "15",
      "coordinates": [
        {
          "allele": "G",
          "end": 72353114,
          "referenceAllele": "T",
          "start": 72353113
        }
      ],
      "hgvs": [
        "NC_000015.10:g.72353114T>G",
        "CM000677.2:g.72353114T>G"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000063"
    },
    {
      "chromosome": "15",
      "coordinates": [
        {
          "allele": "G",
          "end": 72645455,
          "referenceAllele": "T",
          "start": 72645454
        }
      ],
      "hgvs": [
        "NC_000015.9:g.72645455T>G",
        "CM000677.1:g.72645455T>G"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000039"
    },
    {
      "chromosome": "15",
      "coordinates": [
        {
          "allele": "G",
          "end": 70432509,
          "referenceAllele": "T",
          "start": 70432508
        }
      ],
      "hgvs": [
        "NC_000015.8:g.70432509T>G"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000015"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 28066,
          "referenceAllele": "A",
          "start": 28065
        }
      ],
      "hgvs": [
        "NG_009017.1:g.28066A>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001382"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 28066,
          "referenceAllele": "A",
          "start": 28065
        }
      ],
      "hgvs": [
        "NG_009017.2:g.28066A>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS673515"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2870,
          "referenceAllele": "A",
          "start": 2869
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004878",
      "geneNCBI_id": 3073,
      "geneSymbol": "HEXA",
      "hgvs": [
        "ENST00000563908.2:n.2870A>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS826099"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 555,
          "referenceAllele": "A",
          "start": 554
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004878",
      "geneNCBI_id": 3073,
      "geneSymbol": "HEXA",
      "hgvs": [
        "ENST00000567027.6:c.524A>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000457521.2:p.Asp175Ala",
        "hgvsWellDefined": "ENSP00000457521.2:p.Asp175Ala"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS826127"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 544,
          "referenceAllele": "A",
          "start": 543
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004878",
      "geneNCBI_id": 3073,
      "geneSymbol": "HEXA",
      "hgvs": [
        "ENST00000568260.2:c.544A>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000458128.2:n.544A>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS826137"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 608,
          "referenceAllele": "A",
          "start": 607
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004878",
      "geneNCBI_id": 3073,
      "geneSymbol": "HEXA",
      "hgvs": [
        "ENST00000682061.1:c.*186A>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000508316.1:n.*186A>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS827059"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 524,
          "referenceAllele": "A",
          "start": 523
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004878",
      "geneNCBI_id": 3073,
      "geneSymbol": "HEXA",
      "hgvs": [
        "ENST00000682177.1:c.524A>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000507409.1:p.Asp175Ala",
        "hgvsWellDefined": "ENSP00000507409.1:p.Asp175Ala"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS827174"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 676,
          "endIntronDirection": "-",
          "endIntronOffset": 1879,
          "referenceAllele": "A",
          "start": 676,
          "startIntronDirection": "-",
          "startIntronOffset": 1880
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004878",
      "geneNCBI_id": 3073,
      "geneSymbol": "HEXA",
      "hgvs": [
        "ENST00000682461.1:c.677-1880A>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000507308.1:n.677-1880A>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS827451"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 555,
          "referenceAllele": "A",
          "start": 554
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004878",
      "geneNCBI_id": 3073,
      "geneSymbol": "HEXA",
      "hgvs": [
        "ENST00000682653.1:n.555A>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS827642"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 272,
          "endIntronDirection": "-",
          "endIntronOffset": 1879,
          "referenceAllele": "A",
          "start": 272,
          "startIntronDirection": "-",
          "startIntronOffset": 1880
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004878",
      "geneNCBI_id": 3073,
      "geneSymbol": "HEXA",
      "hgvs": [
        "ENST00000682657.1:c.254-1880A>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000507753.1:n.254-1880A>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS827646"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 633,
          "referenceAllele": "A",
          "start": 632
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004878",
      "geneNCBI_id": 3073,
      "geneSymbol": "HEXA",
      "hgvs": [
        "ENST00000682721.1:c.*327A>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000507535.1:n.*327A>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS827710"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 789,
          "referenceAllele": "A",
          "start": 788
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004878",
      "geneNCBI_id": 3073,
      "geneSymbol": "HEXA",
      "hgvs": [
        "ENST00000682843.1:c.*422A>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000508173.1:n.*422A>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS827831"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 433,
          "endIntronDirection": "-",
          "endIntronOffset": 1879,
          "referenceAllele": "A",
          "start": 433,
          "startIntronDirection": "-",
          "startIntronOffset": 1880
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004878",
      "geneNCBI_id": 3073,
      "geneSymbol": "HEXA",
      "hgvs": [
        "ENST00000683003.1:c.413-1880A>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000507576.1:n.413-1880A>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS827990"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 708,
          "referenceAllele": "A",
          "start": 707
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004878",
      "geneNCBI_id": 3073,
      "geneSymbol": "HEXA",
      "hgvs": [
        "ENST00000683133.1:c.708A>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000508108.1:n.708A>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS828118"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 555,
          "referenceAllele": "A",
          "start": 554
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004878",
      "geneNCBI_id": 3073,
      "geneSymbol": "HEXA",
      "hgvs": [
        "ENST00000683228.1:n.555A>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS828210"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 431,
          "endIntronDirection": "-",
          "endIntronOffset": 1879,
          "referenceAllele": "A",
          "start": 431,
          "startIntronDirection": "-",
          "startIntronOffset": 1880
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004878",
      "geneNCBI_id": 3073,
      "geneSymbol": "HEXA",
      "hgvs": [
        "ENST00000683243.1:c.413-1880A>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000507042.1:n.413-1880A>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS828225"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 555,
          "referenceAllele": "A",
          "start": 554
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004878",
      "geneNCBI_id": 3073,
      "geneSymbol": "HEXA",
      "hgvs": [
        "ENST00000683463.1:c.524A>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000507986.1:p.Asp175Ala",
        "hgvsWellDefined": "ENSP00000507986.1:p.Asp175Ala"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS828439"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 555,
          "referenceAllele": "A",
          "start": 554
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004878",
      "geneNCBI_id": 3073,
      "geneSymbol": "HEXA",
      "hgvs": [
        "ENST00000683548.1:n.555A>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS828521"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 796,
          "referenceAllele": "A",
          "start": 795
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004878",
      "geneNCBI_id": 3073,
      "geneSymbol": "HEXA",
      "hgvs": [
        "ENST00000683579.1:c.*422A>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000506867.1:n.*422A>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS828552"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 555,
          "referenceAllele": "A",
          "start": 554
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004878",
      "geneNCBI_id": 3073,
      "geneSymbol": "HEXA",
      "hgvs": [
        "ENST00000683587.1:n.555A>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS828560"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 561,
          "referenceAllele": "A",
          "start": 560
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004878",
      "geneNCBI_id": 3073,
      "geneSymbol": "HEXA",
      "hgvs": [
        "ENST00000683681.1:c.524A>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000508110.1:p.Asp175Ala",
        "hgvsWellDefined": "ENSP00000508110.1:p.Asp175Ala"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS828652"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 805,
          "referenceAllele": "A",
          "start": 804
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004878",
      "geneNCBI_id": 3073,
      "geneSymbol": "HEXA",
      "hgvs": [
        "ENST00000683735.1:c.*422A>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000508336.1:n.*422A>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS828706"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 555,
          "referenceAllele": "A",
          "start": 554
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004878",
      "geneNCBI_id": 3073,
      "geneSymbol": "HEXA",
      "hgvs": [
        "ENST00000683853.1:c.524A>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000506834.1:p.Asp175Ala",
        "hgvsWellDefined": "ENSP00000506834.1:p.Asp175Ala"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS828820"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 561,
          "referenceAllele": "A",
          "start": 560
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004878",
      "geneNCBI_id": 3073,
      "geneSymbol": "HEXA",
      "hgvs": [
        "ENST00000683860.1:c.524A>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000507179.1:p.Asp175Ala",
        "hgvsWellDefined": "ENSP00000507179.1:p.Asp175Ala"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS828827"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 555,
          "referenceAllele": "A",
          "start": 554
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004878",
      "geneNCBI_id": 3073,
      "geneSymbol": "HEXA",
      "hgvs": [
        "ENST00000683884.1:c.524A>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000507004.1:p.Asp175Ala",
        "hgvsWellDefined": "ENSP00000507004.1:p.Asp175Ala"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS828851"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 561,
          "referenceAllele": "A",
          "start": 560
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004878",
      "geneNCBI_id": 3073,
      "geneSymbol": "HEXA",
      "hgvs": [
        "ENST00000684041.1:c.524A>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000508382.1:p.Asp175Ala",
        "hgvsWellDefined": "ENSP00000508382.1:p.Asp175Ala"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS829002"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 555,
          "referenceAllele": "A",
          "start": 554
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004878",
      "geneNCBI_id": 3073,
      "geneSymbol": "HEXA",
      "hgvs": [
        "ENST00000684125.1:c.524A>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000507320.1:p.Asp175Ala",
        "hgvsWellDefined": "ENSP00000507320.1:p.Asp175Ala"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS829083"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2362,
          "referenceAllele": "A",
          "start": 2361
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004878",
      "geneNCBI_id": 3073,
      "geneSymbol": "HEXA",
      "hgvs": [
        "ENST00000684203.1:n.2362A>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS829160"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 432,
          "endIntronDirection": "-",
          "endIntronOffset": 1879,
          "referenceAllele": "A",
          "start": 432,
          "startIntronDirection": "-",
          "startIntronOffset": 1880
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004878",
      "geneNCBI_id": 3073,
      "geneSymbol": "HEXA",
      "hgvs": [
        "ENST00000684231.1:c.413-1880A>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000507748.1:n.413-1880A>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS829188"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 555,
          "referenceAllele": "A",
          "start": 554
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004878",
      "geneNCBI_id": 3073,
      "geneSymbol": "HEXA",
      "hgvs": [
        "ENST00000684263.1:c.524A>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000508369.1:p.Asp175Ala",
        "hgvsWellDefined": "ENSP00000508369.1:p.Asp175Ala"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS829220"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 972,
          "referenceAllele": "A",
          "start": 971
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004878",
      "geneNCBI_id": 3073,
      "geneSymbol": "HEXA",
      "hgvs": [
        "ENST00000684305.1:c.972A>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000506819.1:n.972A>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS829261"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 555,
          "referenceAllele": "A",
          "start": 554
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004878",
      "geneNCBI_id": 3073,
      "geneSymbol": "HEXA",
      "hgvs": [
        "ENST00000684415.1:c.524A>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000507227.1:p.Asp175Ala",
        "hgvsWellDefined": "ENSP00000507227.1:p.Asp175Ala"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS829370"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 561,
          "referenceAllele": "A",
          "start": 560
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004878",
      "geneNCBI_id": 3073,
      "geneSymbol": "HEXA",
      "hgvs": [
        "ENST00000684520.1:c.524A>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000506826.1:p.Asp175Ala",
        "hgvsWellDefined": "ENSP00000506826.1:p.Asp175Ala"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS829473"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 520,
          "endIntronDirection": "-",
          "endIntronOffset": 1879,
          "referenceAllele": "A",
          "start": 520,
          "startIntronDirection": "-",
          "startIntronOffset": 1880
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004878",
      "geneNCBI_id": 3073,
      "geneSymbol": "HEXA",
      "hgvs": [
        "ENST00000684602.1:c.*237-1880A>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000507996.1:n.*237-1880A>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS829554"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 855,
          "referenceAllele": "A",
          "start": 854
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004878",
      "geneNCBI_id": 3073,
      "geneSymbol": "HEXA",
      "hgvs": [
        "ENST00000684667.1:c.855A>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000507003.1:n.855A>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS829618"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 566,
          "referenceAllele": "A",
          "start": 565
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004878",
      "geneNCBI_id": 3073,
      "geneSymbol": "HEXA",
      "hgvs": [
        "ENST00000268097.10:c.524A>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000268097.6:p.Asp175Ala",
        "hgvsWellDefined": "ENSP00000268097.6:p.Asp175Ala"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS743027",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000268097.10:c.524A>C"
          },
          "RefSeq": {
            "hgvs": "NM_000520.6:c.524A>C"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000268097.6:p.Asp175Ala"
          },
          "RefSeq": {
            "hgvs": "NP_000511.2:p.Asp175Ala"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1028,
          "referenceAllele": "A",
          "start": 1027
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004878",
      "geneNCBI_id": 3073,
      "geneSymbol": "HEXA",
      "hgvs": [
        "ENST00000268097.9:c.524A>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000268097.5:p.Asp175Ala",
        "hgvsWellDefined": "ENSP00000268097.5:p.Asp175Ala"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS252048"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 421,
          "endIntronDirection": "+",
          "endIntronOffset": 2445,
          "referenceAllele": "A",
          "start": 421,
          "startIntronDirection": "+",
          "startIntronOffset": 2444
        }
      ],
      "hgvs": [
        "ENST00000379915.4:c.412+2445A>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000478716.1:n.412+2445A>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS272694"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 503,
          "endIntronDirection": "-",
          "endIntronOffset": 1879,
          "referenceAllele": "A",
          "start": 503,
          "startIntronDirection": "-",
          "startIntronOffset": 1880
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004878",
      "geneNCBI_id": 3073,
      "geneSymbol": "HEXA",
      "hgvs": [
        "ENST00000563762.5:c.504-1880A>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000456346.1:n.504-1880A>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS377635"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 578,
          "referenceAllele": "A",
          "start": 577
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004878",
      "geneNCBI_id": 3073,
      "geneSymbol": "HEXA",
      "hgvs": [
        "ENST00000566304.5:c.557A>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000455114.1:p.Asp186Ala",
        "hgvsWellDefined": "ENSP00000455114.1:p.Asp186Ala"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS379341"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 443,
          "endIntronDirection": "-",
          "endIntronOffset": 1879,
          "referenceAllele": "A",
          "start": 443,
          "startIntronDirection": "-",
          "startIntronOffset": 1880
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004878",
      "geneNCBI_id": 3073,
      "geneSymbol": "HEXA",
      "hgvs": [
        "ENST00000566672.5:c.413-1880A>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000457037.1:n.413-1880A>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS379607"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 396,
          "referenceAllele": "A",
          "start": 395
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004878",
      "geneNCBI_id": 3073,
      "geneSymbol": "HEXA",
      "hgvs": [
        "ENST00000567027.5:c.396A>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS379842"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 545,
          "referenceAllele": "A",
          "start": 544
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004878",
      "geneNCBI_id": 3073,
      "geneSymbol": "HEXA",
      "hgvs": [
        "ENST00000567159.5:c.524A>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000456489.1:p.Asp175Ala",
        "hgvsWellDefined": "ENSP00000456489.1:p.Asp175Ala"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS379928"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 508,
          "referenceAllele": "A",
          "start": 507
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004878",
      "geneNCBI_id": 3073,
      "geneSymbol": "HEXA",
      "hgvs": [
        "ENST00000567411.5:c.*45A>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000455545.1:n.*45A>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS380095"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 525,
          "referenceAllele": "A",
          "start": 524
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004878",
      "geneNCBI_id": 3073,
      "geneSymbol": "HEXA",
      "hgvs": [
        "ENST00000568260.1:c.525A>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS380658"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 5928,
          "referenceAllele": "A",
          "start": 5927
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004878",
      "geneNCBI_id": 3073,
      "geneSymbol": "HEXA",
      "hgvs": [
        "ENST00000568777.5:n.5928A>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS381014"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 527,
          "referenceAllele": "A",
          "start": 526
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004878",
      "geneNCBI_id": 3073,
      "geneSymbol": "HEXA",
      "hgvs": [
        "ENST00000569410.5:c.524A>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000457125.1:p.Asp175Ala",
        "hgvsWellDefined": "ENSP00000457125.1:p.Asp175Ala"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS381456"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 417,
          "endIntronDirection": "-",
          "endIntronOffset": 1879,
          "referenceAllele": "A",
          "start": 417,
          "startIntronDirection": "-",
          "startIntronOffset": 1880
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004878",
      "geneNCBI_id": 3073,
      "geneSymbol": "HEXA",
      "hgvs": [
        "ENST00000569509.5:n.418-1880A>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS381521"
    },
    {
      "@id": "http://reg.genome.network/allele/PA645468299",
      "coordinates": [
        {
          "allele": "C",
          "end": 731,
          "referenceAllele": "A",
          "start": 730
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004878",
      "geneNCBI_id": 3073,
      "geneSymbol": "HEXA",
      "hgvs": [
        "NM_000520.4:c.524A>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_000511.2:p.Asp175Ala",
        "hgvsWellDefined": "NP_000511.2:p.Asp175Ala"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006577"
    },
    {
      "@id": "http://reg.genome.network/allele/PA645468299",
      "coordinates": [
        {
          "allele": "C",
          "end": 1025,
          "referenceAllele": "A",
          "start": 1024
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004878",
      "geneNCBI_id": 3073,
      "geneSymbol": "HEXA",
      "hgvs": [
        "NM_000520.5:c.524A>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_000511.2:p.Asp175Ala",
        "hgvsWellDefined": "NP_000511.2:p.Asp175Ala"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS510809"
    },
    {
      "@id": "http://reg.genome.network/allele/PA916022691",
      "coordinates": [
        {
          "allele": "C",
          "end": 1058,
          "referenceAllele": "A",
          "start": 1057
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004878",
      "geneNCBI_id": 3073,
      "geneSymbol": "HEXA",
      "hgvs": [
        "NM_001318825.1:c.557A>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001305754.1:p.Asp186Ala",
        "hgvsWellDefined": "NP_001305754.1:p.Asp186Ala"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS513060"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1025,
          "referenceAllele": "A",
          "start": 1024
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004878",
      "geneNCBI_id": 3073,
      "geneSymbol": "HEXA",
      "hgvs": [
        "NR_134869.1:n.1025A>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS527809"
    },
    {
      "@id": "http://reg.genome.network/allele/PA645468299",
      "coordinates": [
        {
          "allele": "C",
          "end": 566,
          "referenceAllele": "A",
          "start": 565
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004878",
      "geneNCBI_id": 3073,
      "geneSymbol": "HEXA",
      "hgvs": [
        "NM_000520.6:c.524A>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_000511.2:p.Asp175Ala",
        "hgvsWellDefined": "NP_000511.2:p.Asp175Ala"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS674877",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000268097.10:c.524A>C"
          },
          "RefSeq": {
            "hgvs": "NM_000520.6:c.524A>C"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000268097.6:p.Asp175Ala"
          },
          "RefSeq": {
            "hgvs": "NP_000511.2:p.Asp175Ala"
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA916022691",
      "coordinates": [
        {
          "allele": "C",
          "end": 599,
          "referenceAllele": "A",
          "start": 598
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004878",
      "geneNCBI_id": 3073,
      "geneSymbol": "HEXA",
      "hgvs": [
        "NM_001318825.2:c.557A>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001305754.1:p.Asp186Ala",
        "hgvsWellDefined": "NP_001305754.1:p.Asp186Ala"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS684622"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 566,
          "referenceAllele": "A",
          "start": 565
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004878",
      "geneNCBI_id": 3073,
      "geneSymbol": "HEXA",
      "hgvs": [
        "NR_134869.2:n.566A>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS703516"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 566,
          "referenceAllele": "A",
          "start": 565
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004878",
      "geneNCBI_id": 3073,
      "geneSymbol": "HEXA",
      "hgvs": [
        "NR_134869.3:n.566A>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS730887"
    }
  ],
  "type": "nucleotide"
}