{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA459662186",
  "communityStandardTitle": [
    "NM_177924.5(ASAH1):c.771G>T (p.Leu257=)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=899219[alleleid]",
        "alleleId": 899219,
        "preferredName": "NM_177924.5(ASAH1):c.771G>T (p.Leu257=)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/908496",
        "RCV": [
          "RCV001159014",
          "RCV002558403"
        ],
        "variationId": 908496
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr8:g.17918900C>A?assembly=hg19",
        "id": "chr8:g.17918900C>A"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/1799692515",
        "rs": 1799692515
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "8",
      "coordinates": [
        {
          "allele": "A",
          "end": 18061391,
          "referenceAllele": "C",
          "start": 18061390
        }
      ],
      "hgvs": [
        "NC_000008.11:g.18061391C>A",
        "CM000670.2:g.18061391C>A"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000056"
    },
    {
      "chromosome": "8",
      "coordinates": [
        {
          "allele": "A",
          "end": 17918900,
          "referenceAllele": "C",
          "start": 17918899
        }
      ],
      "hgvs": [
        "NC_000008.10:g.17918900C>A",
        "CM000670.1:g.17918900C>A"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000032"
    },
    {
      "chromosome": "8",
      "coordinates": [
        {
          "allele": "A",
          "end": 17963180,
          "referenceAllele": "C",
          "start": 17963179
        }
      ],
      "hgvs": [
        "NC_000008.9:g.17963180C>A"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000008"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 28608,
          "referenceAllele": "G",
          "start": 28607
        }
      ],
      "hgvs": [
        "NG_008985.1:g.28608G>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001356"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 28608,
          "referenceAllele": "G",
          "start": 28607
        }
      ],
      "hgvs": [
        "NG_008985.2:g.28608G>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS673514"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1016,
          "referenceAllele": "G",
          "start": 1015
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000735",
      "geneNCBI_id": 427,
      "geneSymbol": "ASAH1",
      "hgvs": [
        "ENST00000381733.9:c.819G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000371152.4:p.Leu273="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS752573"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 739,
          "referenceAllele": "G",
          "start": 738
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000735",
      "geneNCBI_id": 427,
      "geneSymbol": "ASAH1",
      "hgvs": [
        "ENST00000517409.2:n.739G>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS758567"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2457,
          "referenceAllele": "G",
          "start": 2456
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000735",
      "geneNCBI_id": 427,
      "geneSymbol": "ASAH1",
      "hgvs": [
        "ENST00000518746.2:n.2457G>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS758624"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 746,
          "referenceAllele": "G",
          "start": 745
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000735",
      "geneNCBI_id": 427,
      "geneSymbol": "ASAH1",
      "hgvs": [
        "ENST00000520781.6:c.696G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000427751.1:p.Leu232="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS758701"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 79,
          "referenceAllele": "G",
          "start": 78
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000735",
      "geneNCBI_id": 427,
      "geneSymbol": "ASAH1",
      "hgvs": [
        "ENST00000521542.2:n.79G>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS758736"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 184,
          "referenceAllele": "G",
          "start": 183
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000735",
      "geneNCBI_id": 427,
      "geneSymbol": "ASAH1",
      "hgvs": [
        "ENST00000635756.1:c.184G>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS762619"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 844,
          "referenceAllele": "G",
          "start": 843
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000735",
      "geneNCBI_id": 427,
      "geneSymbol": "ASAH1",
      "hgvs": [
        "ENST00000635944.1:c.*607G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000490195.1:n.*607G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS762756"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 828,
          "referenceAllele": "G",
          "start": 827
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000735",
      "geneNCBI_id": 427,
      "geneSymbol": "ASAH1",
      "hgvs": [
        "ENST00000635998.1:c.771G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000490506.1:p.Leu257="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS762795"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 628,
          "referenceAllele": "G",
          "start": 627
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000735",
      "geneNCBI_id": 427,
      "geneSymbol": "ASAH1",
      "hgvs": [
        "ENST00000636009.1:c.628G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000489988.1:n.628G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS762804"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 869,
          "referenceAllele": "G",
          "start": 868
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000735",
      "geneNCBI_id": 427,
      "geneSymbol": "ASAH1",
      "hgvs": [
        "ENST00000636033.1:c.*607G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000489617.1:n.*607G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS762824"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1068,
          "referenceAllele": "G",
          "start": 1067
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000735",
      "geneNCBI_id": 427,
      "geneSymbol": "ASAH1",
      "hgvs": [
        "ENST00000636050.1:c.*614G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000490562.1:n.*614G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS762838"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 466,
          "referenceAllele": "G",
          "start": 465
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000735",
      "geneNCBI_id": 427,
      "geneSymbol": "ASAH1",
      "hgvs": [
        "ENST00000636128.1:c.450G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000489789.1:p.Leu150="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS762892"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 854,
          "referenceAllele": "G",
          "start": 853
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000735",
      "geneNCBI_id": 427,
      "geneSymbol": "ASAH1",
      "hgvs": [
        "ENST00000636160.1:c.*663G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000489651.1:n.*663G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS762916"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 798,
          "referenceAllele": "G",
          "start": 797
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000735",
      "geneNCBI_id": 427,
      "geneSymbol": "ASAH1",
      "hgvs": [
        "ENST00000636171.1:c.714G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000489761.1:p.Leu238="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS762923"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 998,
          "referenceAllele": "G",
          "start": 997
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000735",
      "geneNCBI_id": 427,
      "geneSymbol": "ASAH1",
      "hgvs": [
        "ENST00000636455.1:c.819G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000490502.1:p.Leu273="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS763126"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 748,
          "referenceAllele": "G",
          "start": 747
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000735",
      "geneNCBI_id": 427,
      "geneSymbol": "ASAH1",
      "hgvs": [
        "ENST00000636494.1:c.*551G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000490388.1:n.*551G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS763158"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 433,
          "referenceAllele": "G",
          "start": 432
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000735",
      "geneNCBI_id": 427,
      "geneSymbol": "ASAH1",
      "hgvs": [
        "ENST00000636563.1:n.433G>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS763209"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 749,
          "referenceAllele": "G",
          "start": 748
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000735",
      "geneNCBI_id": 427,
      "geneSymbol": "ASAH1",
      "hgvs": [
        "ENST00000636577.1:c.711G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000490027.1:p.Leu237="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS763220"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 980,
          "referenceAllele": "G",
          "start": 979
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000735",
      "geneNCBI_id": 427,
      "geneSymbol": "ASAH1",
      "hgvs": [
        "ENST00000636691.1:c.576G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000490725.1:p.Leu192="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS763311"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 677,
          "referenceAllele": "G",
          "start": 676
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000735",
      "geneNCBI_id": 427,
      "geneSymbol": "ASAH1",
      "hgvs": [
        "ENST00000636701.1:c.*422G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000489800.1:n.*422G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS763318"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 688,
          "referenceAllele": "G",
          "start": 687
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000735",
      "geneNCBI_id": 427,
      "geneSymbol": "ASAH1",
      "hgvs": [
        "ENST00000636815.1:c.688G>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS763402"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 873,
          "referenceAllele": "G",
          "start": 872
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000735",
      "geneNCBI_id": 427,
      "geneSymbol": "ASAH1",
      "hgvs": [
        "ENST00000636920.1:c.*607G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000490437.1:n.*607G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS763477"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 726,
          "referenceAllele": "G",
          "start": 725
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000735",
      "geneNCBI_id": 427,
      "geneSymbol": "ASAH1",
      "hgvs": [
        "ENST00000636997.1:c.684G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000490093.1:p.Leu228="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS763533"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1480,
          "referenceAllele": "G",
          "start": 1479
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000735",
      "geneNCBI_id": 427,
      "geneSymbol": "ASAH1",
      "hgvs": [
        "ENST00000637013.1:c.*1139G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000490596.1:n.*1139G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS763544"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1178,
          "referenceAllele": "G",
          "start": 1177
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000735",
      "geneNCBI_id": 427,
      "geneSymbol": "ASAH1",
      "hgvs": [
        "ENST00000637014.1:n.1178G>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS763545"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 805,
          "referenceAllele": "G",
          "start": 804
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000735",
      "geneNCBI_id": 427,
      "geneSymbol": "ASAH1",
      "hgvs": [
        "ENST00000637095.1:c.*551G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000490415.1:n.*551G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS763609"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1693,
          "referenceAllele": "G",
          "start": 1692
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000735",
      "geneNCBI_id": 427,
      "geneSymbol": "ASAH1",
      "hgvs": [
        "ENST00000637244.1:c.*1289G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000490188.1:n.*1289G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS763723"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2208,
          "referenceAllele": "G",
          "start": 2207
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000735",
      "geneNCBI_id": 427,
      "geneSymbol": "ASAH1",
      "hgvs": [
        "ENST00000637343.1:n.2208G>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS763798"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1378,
          "referenceAllele": "G",
          "start": 1377
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000735",
      "geneNCBI_id": 427,
      "geneSymbol": "ASAH1",
      "hgvs": [
        "ENST00000637429.1:c.*983G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000490522.1:n.*983G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS763856"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1155,
          "referenceAllele": "G",
          "start": 1154
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000735",
      "geneNCBI_id": 427,
      "geneSymbol": "ASAH1",
      "hgvs": [
        "ENST00000637484.1:c.*733G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000490837.1:n.*733G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS763891"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 723,
          "referenceAllele": "G",
          "start": 722
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000735",
      "geneNCBI_id": 427,
      "geneSymbol": "ASAH1",
      "hgvs": [
        "ENST00000637528.1:c.708G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000490801.1:p.Leu236="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS763922"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3492,
          "referenceAllele": "G",
          "start": 3491
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000735",
      "geneNCBI_id": 427,
      "geneSymbol": "ASAH1",
      "hgvs": [
        "ENST00000637609.1:n.3492G>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS763982"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1020,
          "referenceAllele": "G",
          "start": 1019
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000735",
      "geneNCBI_id": 427,
      "geneSymbol": "ASAH1",
      "hgvs": [
        "ENST00000637636.1:c.765G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000490112.1:p.Leu255="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS764001"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 820,
          "referenceAllele": "G",
          "start": 819
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000735",
      "geneNCBI_id": 427,
      "geneSymbol": "ASAH1",
      "hgvs": [
        "ENST00000637790.2:c.771G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000490272.1:p.Leu257="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS764110",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000637790.2:c.771G>T"
          },
          "RefSeq": {
            "hgvs": "NM_177924.5:c.771G>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000490272.1:p.Leu257="
          },
          "RefSeq": {
            "hgvs": "NP_808592.2:p.Leu257="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1137,
          "referenceAllele": "G",
          "start": 1136
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000735",
      "geneNCBI_id": 427,
      "geneSymbol": "ASAH1",
      "hgvs": [
        "ENST00000637857.1:n.1137G>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS764163"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 808,
          "referenceAllele": "G",
          "start": 807
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000735",
      "geneNCBI_id": 427,
      "geneSymbol": "ASAH1",
      "hgvs": [
        "ENST00000637922.1:c.576G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000490071.1:p.Leu192="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS764211"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 904,
          "referenceAllele": "G",
          "start": 903
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000735",
      "geneNCBI_id": 427,
      "geneSymbol": "ASAH1",
      "hgvs": [
        "ENST00000637991.1:c.744G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000489901.1:p.Leu248="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS764261"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 988,
          "referenceAllele": "G",
          "start": 987
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000735",
      "geneNCBI_id": 427,
      "geneSymbol": "ASAH1",
      "hgvs": [
        "ENST00000638028.1:n.988G>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS764285"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1592,
          "referenceAllele": "G",
          "start": 1591
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000735",
      "geneNCBI_id": 427,
      "geneSymbol": "ASAH1",
      "hgvs": [
        "ENST00000638069.1:n.1592G>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS764318"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1083,
          "referenceAllele": "G",
          "start": 1082
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000735",
      "geneNCBI_id": 427,
      "geneSymbol": "ASAH1",
      "hgvs": [
        "ENST00000262097.10:c.771G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000262097.6:p.Leu257="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS250926"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 937,
          "referenceAllele": "G",
          "start": 936
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000735",
      "geneNCBI_id": 427,
      "geneSymbol": "ASAH1",
      "hgvs": [
        "ENST00000314146.10:c.753G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000326970.10:p.Leu251="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS256912"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 986,
          "referenceAllele": "G",
          "start": 985
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000735",
      "geneNCBI_id": 427,
      "geneSymbol": "ASAH1",
      "hgvs": [
        "ENST00000381733.8:c.819G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000371152.4:p.Leu273="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS273483"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 600,
          "referenceAllele": "G",
          "start": 599
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000735",
      "geneNCBI_id": 427,
      "geneSymbol": "ASAH1",
      "hgvs": [
        "ENST00000519468.5:n.600G>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS346705"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1008,
          "referenceAllele": "G",
          "start": 1007
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000735",
      "geneNCBI_id": 427,
      "geneSymbol": "ASAH1",
      "hgvs": [
        "ENST00000520781.5:c.696G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000427751.1:p.Leu232="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS347754"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 484,
          "referenceAllele": "G",
          "start": 483
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000735",
      "geneNCBI_id": 427,
      "geneSymbol": "ASAH1",
      "hgvs": [
        "ENST00000521542.1:n.484G>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS348335"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825624808",
      "coordinates": [
        {
          "allele": "T",
          "end": 950,
          "referenceAllele": "G",
          "start": 949
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000735",
      "geneNCBI_id": 427,
      "geneSymbol": "ASAH1",
      "hgvs": [
        "NM_001127505.1:c.753G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001120977.1:p.Leu251="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS011631"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825624808",
      "coordinates": [
        {
          "allele": "T",
          "end": 950,
          "referenceAllele": "G",
          "start": 949
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000735",
      "geneNCBI_id": 427,
      "geneSymbol": "ASAH1",
      "hgvs": [
        "NM_001127505.2:c.753G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001120977.1:p.Leu251="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS011632"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829525199",
      "coordinates": [
        {
          "allele": "T",
          "end": 1016,
          "referenceAllele": "G",
          "start": 1015
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000735",
      "geneNCBI_id": 427,
      "geneSymbol": "ASAH1",
      "hgvs": [
        "NM_004315.4:c.819G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_004306.3:p.Leu273="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS029484"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829525199",
      "coordinates": [
        {
          "allele": "T",
          "end": 1016,
          "referenceAllele": "G",
          "start": 1015
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000735",
      "geneNCBI_id": 427,
      "geneSymbol": "ASAH1",
      "hgvs": [
        "NM_004315.5:c.819G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_004306.3:p.Leu273="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS029485"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2830369027",
      "coordinates": [
        {
          "allele": "T",
          "end": 1083,
          "referenceAllele": "G",
          "start": 1082
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000735",
      "geneNCBI_id": 427,
      "geneSymbol": "ASAH1",
      "hgvs": [
        "NM_177924.3:c.771G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_808592.2:p.Leu257="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS043383"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2830369027",
      "coordinates": [
        {
          "allele": "T",
          "end": 1083,
          "referenceAllele": "G",
          "start": 1082
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000735",
      "geneNCBI_id": 427,
      "geneSymbol": "ASAH1",
      "hgvs": [
        "NM_177924.4:c.771G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_808592.2:p.Leu257="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS043384"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 844,
          "referenceAllele": "G",
          "start": 843
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000735",
      "geneNCBI_id": 427,
      "geneSymbol": "ASAH1",
      "hgvs": [
        "XM_005273504.2:c.705G>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005273561.1:p.Leu235="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS067626"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828108583",
      "coordinates": [
        {
          "allele": "T",
          "end": 768,
          "referenceAllele": "G",
          "start": 767
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000735",
      "geneNCBI_id": 427,
      "geneSymbol": "ASAH1",
      "hgvs": [
        "NM_001363743.1:c.576G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001350672.1:p.Leu192="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS523526"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 844,
          "referenceAllele": "G",
          "start": 843
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000735",
      "geneNCBI_id": 427,
      "geneSymbol": "ASAH1",
      "hgvs": [
        "XM_005273504.3:c.705G>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005273561.1:p.Leu235="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS537465"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2830369027",
      "coordinates": [
        {
          "allele": "T",
          "end": 820,
          "referenceAllele": "G",
          "start": 819
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000735",
      "geneNCBI_id": 427,
      "geneSymbol": "ASAH1",
      "hgvs": [
        "NM_177924.5:c.771G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_808592.2:p.Leu257="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS672816",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000637790.2:c.771G>T"
          },
          "RefSeq": {
            "hgvs": "NM_177924.5:c.771G>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000490272.1:p.Leu257="
          },
          "RefSeq": {
            "hgvs": "NP_808592.2:p.Leu257="
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825624808",
      "coordinates": [
        {
          "allele": "T",
          "end": 913,
          "referenceAllele": "G",
          "start": 912
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000735",
      "geneNCBI_id": 427,
      "geneSymbol": "ASAH1",
      "hgvs": [
        "NM_001127505.3:c.753G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001120977.1:p.Leu251="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS676901"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828108583",
      "coordinates": [
        {
          "allele": "T",
          "end": 768,
          "referenceAllele": "G",
          "start": 767
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000735",
      "geneNCBI_id": 427,
      "geneSymbol": "ASAH1",
      "hgvs": [
        "NM_001363743.2:c.576G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001350672.1:p.Leu192="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS690762"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829525199",
      "coordinates": [
        {
          "allele": "T",
          "end": 979,
          "referenceAllele": "G",
          "start": 978
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000735",
      "geneNCBI_id": 427,
      "geneSymbol": "ASAH1",
      "hgvs": [
        "NM_004315.6:c.819G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_004306.3:p.Leu273="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS696102"
    }
  ],
  "type": "nucleotide"
}