{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA393063115",
  "communityStandardTitle": [
    "NM_000520.6(HEXA):c.748G>C (p.Gly250Arg)"
  ],
  "externalRecords": {
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr15:g.72642916C>G?assembly=hg19",
        "id": "chr15:g.72642916C>G"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr15:g.72350575C>G?assembly=hg38",
        "id": "chr15:g.72350575C>G"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/1057521137",
        "rs": 1057521137
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/15-72350575-C-G?dataset=gnomad_r4",
        "id": "15-72350575-C-G",
        "variant": "15:72350575 C / G"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "15",
      "coordinates": [
        {
          "allele": "G",
          "end": 72350575,
          "referenceAllele": "C",
          "start": 72350574
        }
      ],
      "hgvs": [
        "NC_000015.10:g.72350575C>G",
        "CM000677.2:g.72350575C>G"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000063"
    },
    {
      "chromosome": "15",
      "coordinates": [
        {
          "allele": "G",
          "end": 72642916,
          "referenceAllele": "C",
          "start": 72642915
        }
      ],
      "hgvs": [
        "NC_000015.9:g.72642916C>G",
        "CM000677.1:g.72642916C>G"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000039"
    },
    {
      "chromosome": "15",
      "coordinates": [
        {
          "allele": "G",
          "end": 70429970,
          "referenceAllele": "C",
          "start": 70429969
        }
      ],
      "hgvs": [
        "NC_000015.8:g.70429970C>G"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000015"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 30605,
          "referenceAllele": "G",
          "start": 30604
        }
      ],
      "hgvs": [
        "NG_009017.1:g.30605G>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001382"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 30605,
          "referenceAllele": "G",
          "start": 30604
        }
      ],
      "hgvs": [
        "NG_009017.2:g.30605G>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS673515"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 3094,
          "referenceAllele": "G",
          "start": 3093
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004878",
      "geneNCBI_id": 3073,
      "geneSymbol": "HEXA",
      "hgvs": [
        "ENST00000563908.2:n.3094G>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS826099"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 779,
          "referenceAllele": "G",
          "start": 778
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004878",
      "geneNCBI_id": 3073,
      "geneSymbol": "HEXA",
      "hgvs": [
        "ENST00000567027.6:c.748G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000457521.2:p.Gly250Arg",
        "hgvsWellDefined": "ENSP00000457521.2:p.Gly250Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS826127"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 832,
          "referenceAllele": "G",
          "start": 831
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004878",
      "geneNCBI_id": 3073,
      "geneSymbol": "HEXA",
      "hgvs": [
        "ENST00000682061.1:c.*410G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000508316.1:n.*410G>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS827059"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 791,
          "referenceAllele": "G",
          "start": 790
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004878",
      "geneNCBI_id": 3073,
      "geneSymbol": "HEXA",
      "hgvs": [
        "ENST00000682177.1:c.791G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000507409.1:n.791G>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS827174"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 854,
          "referenceAllele": "G",
          "start": 853
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004878",
      "geneNCBI_id": 3073,
      "geneSymbol": "HEXA",
      "hgvs": [
        "ENST00000682461.1:c.854G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000507308.1:n.854G>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS827451"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 779,
          "referenceAllele": "G",
          "start": 778
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004878",
      "geneNCBI_id": 3073,
      "geneSymbol": "HEXA",
      "hgvs": [
        "ENST00000682653.1:n.779G>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS827642"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 450,
          "referenceAllele": "G",
          "start": 449
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004878",
      "geneNCBI_id": 3073,
      "geneSymbol": "HEXA",
      "hgvs": [
        "ENST00000682657.1:c.*158G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000507753.1:n.*158G>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS827646"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 857,
          "referenceAllele": "G",
          "start": 856
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004878",
      "geneNCBI_id": 3073,
      "geneSymbol": "HEXA",
      "hgvs": [
        "ENST00000682721.1:c.*551G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000507535.1:n.*551G>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS827710"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1013,
          "referenceAllele": "G",
          "start": 1012
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004878",
      "geneNCBI_id": 3073,
      "geneSymbol": "HEXA",
      "hgvs": [
        "ENST00000682843.1:c.*646G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000508173.1:n.*646G>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS827831"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 611,
          "referenceAllele": "G",
          "start": 610
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004878",
      "geneNCBI_id": 3073,
      "geneSymbol": "HEXA",
      "hgvs": [
        "ENST00000683003.1:c.*158G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000507576.1:n.*158G>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS827990"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 932,
          "referenceAllele": "G",
          "start": 931
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004878",
      "geneNCBI_id": 3073,
      "geneSymbol": "HEXA",
      "hgvs": [
        "ENST00000683133.1:c.932G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000508108.1:n.932G>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS828118"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 779,
          "referenceAllele": "G",
          "start": 778
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004878",
      "geneNCBI_id": 3073,
      "geneSymbol": "HEXA",
      "hgvs": [
        "ENST00000683228.1:n.779G>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS828210"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 609,
          "referenceAllele": "G",
          "start": 608
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004878",
      "geneNCBI_id": 3073,
      "geneSymbol": "HEXA",
      "hgvs": [
        "ENST00000683243.1:c.*158G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000507042.1:n.*158G>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS828225"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 779,
          "referenceAllele": "G",
          "start": 778
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004878",
      "geneNCBI_id": 3073,
      "geneSymbol": "HEXA",
      "hgvs": [
        "ENST00000683463.1:c.748G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000507986.1:p.Gly250Arg",
        "hgvsWellDefined": "ENSP00000507986.1:p.Gly250Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS828439"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 779,
          "referenceAllele": "G",
          "start": 778
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004878",
      "geneNCBI_id": 3073,
      "geneSymbol": "HEXA",
      "hgvs": [
        "ENST00000683548.1:n.779G>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS828521"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1020,
          "referenceAllele": "G",
          "start": 1019
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004878",
      "geneNCBI_id": 3073,
      "geneSymbol": "HEXA",
      "hgvs": [
        "ENST00000683579.1:c.*646G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000506867.1:n.*646G>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS828552"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 779,
          "referenceAllele": "G",
          "start": 778
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004878",
      "geneNCBI_id": 3073,
      "geneSymbol": "HEXA",
      "hgvs": [
        "ENST00000683587.1:n.779G>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS828560"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 785,
          "referenceAllele": "G",
          "start": 784
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004878",
      "geneNCBI_id": 3073,
      "geneSymbol": "HEXA",
      "hgvs": [
        "ENST00000683681.1:c.748G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000508110.1:p.Gly250Arg",
        "hgvsWellDefined": "ENSP00000508110.1:p.Gly250Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS828652"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1029,
          "referenceAllele": "G",
          "start": 1028
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004878",
      "geneNCBI_id": 3073,
      "geneSymbol": "HEXA",
      "hgvs": [
        "ENST00000683735.1:c.*646G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000508336.1:n.*646G>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS828706"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 579,
          "referenceAllele": "G",
          "start": 578
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004878",
      "geneNCBI_id": 3073,
      "geneSymbol": "HEXA",
      "hgvs": [
        "ENST00000683742.1:n.579G>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS828713"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 779,
          "referenceAllele": "G",
          "start": 778
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004878",
      "geneNCBI_id": 3073,
      "geneSymbol": "HEXA",
      "hgvs": [
        "ENST00000683853.1:c.748G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000506834.1:p.Gly250Arg",
        "hgvsWellDefined": "ENSP00000506834.1:p.Gly250Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS828820"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 785,
          "referenceAllele": "G",
          "start": 784
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004878",
      "geneNCBI_id": 3073,
      "geneSymbol": "HEXA",
      "hgvs": [
        "ENST00000683860.1:c.748G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000507179.1:p.Gly250Arg",
        "hgvsWellDefined": "ENSP00000507179.1:p.Gly250Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS828827"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 779,
          "referenceAllele": "G",
          "start": 778
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004878",
      "geneNCBI_id": 3073,
      "geneSymbol": "HEXA",
      "hgvs": [
        "ENST00000683884.1:c.748G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000507004.1:p.Gly250Arg",
        "hgvsWellDefined": "ENSP00000507004.1:p.Gly250Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS828851"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 785,
          "referenceAllele": "G",
          "start": 784
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004878",
      "geneNCBI_id": 3073,
      "geneSymbol": "HEXA",
      "hgvs": [
        "ENST00000684041.1:c.748G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000508382.1:p.Gly250Arg",
        "hgvsWellDefined": "ENSP00000508382.1:p.Gly250Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS829002"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 779,
          "referenceAllele": "G",
          "start": 778
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004878",
      "geneNCBI_id": 3073,
      "geneSymbol": "HEXA",
      "hgvs": [
        "ENST00000684125.1:c.748G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000507320.1:p.Gly250Arg",
        "hgvsWellDefined": "ENSP00000507320.1:p.Gly250Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS829083"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2586,
          "referenceAllele": "G",
          "start": 2585
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004878",
      "geneNCBI_id": 3073,
      "geneSymbol": "HEXA",
      "hgvs": [
        "ENST00000684203.1:n.2586G>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS829160"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 610,
          "referenceAllele": "G",
          "start": 609
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004878",
      "geneNCBI_id": 3073,
      "geneSymbol": "HEXA",
      "hgvs": [
        "ENST00000684231.1:c.*158G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000507748.1:n.*158G>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS829188"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 779,
          "referenceAllele": "G",
          "start": 778
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004878",
      "geneNCBI_id": 3073,
      "geneSymbol": "HEXA",
      "hgvs": [
        "ENST00000684263.1:c.748G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000508369.1:p.Gly250Arg",
        "hgvsWellDefined": "ENSP00000508369.1:p.Gly250Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS829220"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1196,
          "referenceAllele": "G",
          "start": 1195
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004878",
      "geneNCBI_id": 3073,
      "geneSymbol": "HEXA",
      "hgvs": [
        "ENST00000684305.1:c.1196G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000506819.1:n.1196G>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS829261"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 779,
          "referenceAllele": "G",
          "start": 778
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004878",
      "geneNCBI_id": 3073,
      "geneSymbol": "HEXA",
      "hgvs": [
        "ENST00000684415.1:c.748G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000507227.1:p.Gly250Arg",
        "hgvsWellDefined": "ENSP00000507227.1:p.Gly250Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS829370"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 785,
          "referenceAllele": "G",
          "start": 784
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004878",
      "geneNCBI_id": 3073,
      "geneSymbol": "HEXA",
      "hgvs": [
        "ENST00000684520.1:c.748G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000506826.1:p.Gly250Arg",
        "hgvsWellDefined": "ENSP00000506826.1:p.Gly250Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS829473"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 698,
          "referenceAllele": "G",
          "start": 697
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004878",
      "geneNCBI_id": 3073,
      "geneSymbol": "HEXA",
      "hgvs": [
        "ENST00000684602.1:c.*414G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000507996.1:n.*414G>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS829554"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1079,
          "referenceAllele": "G",
          "start": 1078
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004878",
      "geneNCBI_id": 3073,
      "geneSymbol": "HEXA",
      "hgvs": [
        "ENST00000684667.1:c.1079G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000507003.1:n.1079G>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS829618"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 790,
          "referenceAllele": "G",
          "start": 789
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004878",
      "geneNCBI_id": 3073,
      "geneSymbol": "HEXA",
      "hgvs": [
        "ENST00000268097.10:c.748G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000268097.6:p.Gly250Arg",
        "hgvsWellDefined": "ENSP00000268097.6:p.Gly250Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS743027",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000268097.10:c.748G>C"
          },
          "RefSeq": {
            "hgvs": "NM_000520.6:c.748G>C"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000268097.6:p.Gly250Arg"
          },
          "RefSeq": {
            "hgvs": "NP_000511.2:p.Gly250Arg"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1252,
          "referenceAllele": "G",
          "start": 1251
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004878",
      "geneNCBI_id": 3073,
      "geneSymbol": "HEXA",
      "hgvs": [
        "ENST00000268097.9:c.748G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000268097.5:p.Gly250Arg",
        "hgvsWellDefined": "ENSP00000268097.5:p.Gly250Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS252048"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 421,
          "endIntronDirection": "-",
          "endIntronOffset": 4249,
          "referenceAllele": "G",
          "start": 421,
          "startIntronDirection": "-",
          "startIntronOffset": 4250
        }
      ],
      "hgvs": [
        "ENST00000379915.4:c.413-4250G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000478716.1:n.413-4250G>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS272694"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 681,
          "referenceAllele": "G",
          "start": 680
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004878",
      "geneNCBI_id": 3073,
      "geneSymbol": "HEXA",
      "hgvs": [
        "ENST00000563762.5:c.681G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000456346.1:n.681G>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS377635"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 802,
          "referenceAllele": "G",
          "start": 801
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004878",
      "geneNCBI_id": 3073,
      "geneSymbol": "HEXA",
      "hgvs": [
        "ENST00000566304.5:c.781G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000455114.1:p.Gly261Arg",
        "hgvsWellDefined": "ENSP00000455114.1:p.Gly261Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS379341"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 621,
          "referenceAllele": "G",
          "start": 620
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004878",
      "geneNCBI_id": 3073,
      "geneSymbol": "HEXA",
      "hgvs": [
        "ENST00000566672.5:c.*158G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000457037.1:n.*158G>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS379607"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 620,
          "referenceAllele": "G",
          "start": 619
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004878",
      "geneNCBI_id": 3073,
      "geneSymbol": "HEXA",
      "hgvs": [
        "ENST00000567027.5:c.620G>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS379842"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 769,
          "referenceAllele": "G",
          "start": 768
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004878",
      "geneNCBI_id": 3073,
      "geneSymbol": "HEXA",
      "hgvs": [
        "ENST00000567159.5:c.748G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000456489.1:p.Gly250Arg",
        "hgvsWellDefined": "ENSP00000456489.1:p.Gly250Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS379928"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 732,
          "referenceAllele": "G",
          "start": 731
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004878",
      "geneNCBI_id": 3073,
      "geneSymbol": "HEXA",
      "hgvs": [
        "ENST00000567411.5:c.*269G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000455545.1:n.*269G>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS380095"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 6152,
          "referenceAllele": "G",
          "start": 6151
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004878",
      "geneNCBI_id": 3073,
      "geneSymbol": "HEXA",
      "hgvs": [
        "ENST00000568777.5:n.6152G>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS381014"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 751,
          "referenceAllele": "G",
          "start": 750
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004878",
      "geneNCBI_id": 3073,
      "geneSymbol": "HEXA",
      "hgvs": [
        "ENST00000569410.5:c.748G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000457125.1:p.Gly250Arg",
        "hgvsWellDefined": "ENSP00000457125.1:p.Gly250Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS381456"
    },
    {
      "@id": "http://reg.genome.network/allele/PA3082261542",
      "coordinates": [
        {
          "allele": "C",
          "end": 955,
          "referenceAllele": "G",
          "start": 954
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004878",
      "geneNCBI_id": 3073,
      "geneSymbol": "HEXA",
      "hgvs": [
        "NM_000520.4:c.748G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_000511.2:p.Gly250Arg",
        "hgvsWellDefined": "NP_000511.2:p.Gly250Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006577"
    },
    {
      "@id": "http://reg.genome.network/allele/PA3082261542",
      "coordinates": [
        {
          "allele": "C",
          "end": 1249,
          "referenceAllele": "G",
          "start": 1248
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004878",
      "geneNCBI_id": 3073,
      "geneSymbol": "HEXA",
      "hgvs": [
        "NM_000520.5:c.748G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_000511.2:p.Gly250Arg",
        "hgvsWellDefined": "NP_000511.2:p.Gly250Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS510809"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1282,
          "referenceAllele": "G",
          "start": 1281
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004878",
      "geneNCBI_id": 3073,
      "geneSymbol": "HEXA",
      "hgvs": [
        "NM_001318825.1:c.781G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001305754.1:p.Gly261Arg",
        "hgvsWellDefined": "NP_001305754.1:p.Gly261Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS513060"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1249,
          "referenceAllele": "G",
          "start": 1248
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004878",
      "geneNCBI_id": 3073,
      "geneSymbol": "HEXA",
      "hgvs": [
        "NR_134869.1:n.1249G>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS527809"
    },
    {
      "@id": "http://reg.genome.network/allele/PA3082261542",
      "coordinates": [
        {
          "allele": "C",
          "end": 790,
          "referenceAllele": "G",
          "start": 789
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004878",
      "geneNCBI_id": 3073,
      "geneSymbol": "HEXA",
      "hgvs": [
        "NM_000520.6:c.748G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_000511.2:p.Gly250Arg",
        "hgvsWellDefined": "NP_000511.2:p.Gly250Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS674877",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000268097.10:c.748G>C"
          },
          "RefSeq": {
            "hgvs": "NM_000520.6:c.748G>C"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000268097.6:p.Gly250Arg"
          },
          "RefSeq": {
            "hgvs": "NP_000511.2:p.Gly250Arg"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 823,
          "referenceAllele": "G",
          "start": 822
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004878",
      "geneNCBI_id": 3073,
      "geneSymbol": "HEXA",
      "hgvs": [
        "NM_001318825.2:c.781G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001305754.1:p.Gly261Arg",
        "hgvsWellDefined": "NP_001305754.1:p.Gly261Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS684622"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 790,
          "referenceAllele": "G",
          "start": 789
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004878",
      "geneNCBI_id": 3073,
      "geneSymbol": "HEXA",
      "hgvs": [
        "NR_134869.2:n.790G>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS703516"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 790,
          "referenceAllele": "G",
          "start": 789
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004878",
      "geneNCBI_id": 3073,
      "geneSymbol": "HEXA",
      "hgvs": [
        "NR_134869.3:n.790G>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS730887"
    }
  ],
  "type": "nucleotide"
}