{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA370430268",
  "communityStandardTitle": [
    "NM_177924.5(ASAH1):c.518A>T (p.Asn173Ile)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=800730[alleleid]",
        "alleleId": 800730,
        "preferredName": "NM_177924.5(ASAH1):c.518A>T (p.Asn173Ile)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/812480",
        "RCV": [
          "RCV001003309"
        ],
        "variationId": 812480
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr8:g.17919918T>A?assembly=hg19",
        "id": "chr8:g.17919918T>A"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr8:g.18062409T>A?assembly=hg38",
        "id": "chr8:g.18062409T>A"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/1588978873",
        "rs": 1588978873
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/8-18062409-T-A?dataset=gnomad_r4",
        "id": "8-18062409-T-A",
        "variant": "8:18062409 T / A"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "8",
      "coordinates": [
        {
          "allele": "A",
          "end": 18062409,
          "referenceAllele": "T",
          "start": 18062408
        }
      ],
      "hgvs": [
        "NC_000008.11:g.18062409T>A",
        "CM000670.2:g.18062409T>A"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000056"
    },
    {
      "chromosome": "8",
      "coordinates": [
        {
          "allele": "A",
          "end": 17919918,
          "referenceAllele": "T",
          "start": 17919917
        }
      ],
      "hgvs": [
        "NC_000008.10:g.17919918T>A",
        "CM000670.1:g.17919918T>A"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000032"
    },
    {
      "chromosome": "8",
      "coordinates": [
        {
          "allele": "A",
          "end": 17964198,
          "referenceAllele": "T",
          "start": 17964197
        }
      ],
      "hgvs": [
        "NC_000008.9:g.17964198T>A"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000008"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 27590,
          "referenceAllele": "A",
          "start": 27589
        }
      ],
      "hgvs": [
        "NG_008985.1:g.27590A>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001356"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 27590,
          "referenceAllele": "A",
          "start": 27589
        }
      ],
      "hgvs": [
        "NG_008985.2:g.27590A>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS673514"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 763,
          "referenceAllele": "A",
          "start": 762
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000735",
      "geneNCBI_id": 427,
      "geneSymbol": "ASAH1",
      "hgvs": [
        "ENST00000381733.9:c.566A>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000371152.4:p.Asn189Ile",
        "hgvsWellDefined": "ENSP00000371152.4:p.Asn189Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS752573"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 455,
          "referenceAllele": "A",
          "start": 454
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000735",
      "geneNCBI_id": 427,
      "geneSymbol": "ASAH1",
      "hgvs": [
        "ENST00000517409.2:n.455A>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS758567"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1439,
          "referenceAllele": "A",
          "start": 1438
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000735",
      "geneNCBI_id": 427,
      "geneSymbol": "ASAH1",
      "hgvs": [
        "ENST00000518746.2:n.1439A>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS758624"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 535,
          "referenceAllele": "A",
          "start": 534
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000735",
      "geneNCBI_id": 427,
      "geneSymbol": "ASAH1",
      "hgvs": [
        "ENST00000519545.6:n.535A>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS758652"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 493,
          "referenceAllele": "A",
          "start": 492
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000735",
      "geneNCBI_id": 427,
      "geneSymbol": "ASAH1",
      "hgvs": [
        "ENST00000520781.6:c.443A>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000427751.1:p.Asn148Ile",
        "hgvsWellDefined": "ENSP00000427751.1:p.Asn148Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS758701"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 530,
          "referenceAllele": "A",
          "start": 529
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000735",
      "geneNCBI_id": 427,
      "geneSymbol": "ASAH1",
      "hgvs": [
        "ENST00000523593.6:c.*361A>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000490700.1:n.*361A>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS758815"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 560,
          "referenceAllele": "A",
          "start": 559
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000735",
      "geneNCBI_id": 427,
      "geneSymbol": "ASAH1",
      "hgvs": [
        "ENST00000635769.1:c.539A>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000490485.1:p.Asn180Ile",
        "hgvsWellDefined": "ENSP00000490485.1:p.Asn180Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS762630"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 591,
          "referenceAllele": "A",
          "start": 590
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000735",
      "geneNCBI_id": 427,
      "geneSymbol": "ASAH1",
      "hgvs": [
        "ENST00000635944.1:c.*354A>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000490195.1:n.*354A>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS762756"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 575,
          "referenceAllele": "A",
          "start": 574
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000735",
      "geneNCBI_id": 427,
      "geneSymbol": "ASAH1",
      "hgvs": [
        "ENST00000635998.1:c.518A>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000490506.1:p.Asn173Ile",
        "hgvsWellDefined": "ENSP00000490506.1:p.Asn173Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS762795"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 375,
          "referenceAllele": "A",
          "start": 374
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000735",
      "geneNCBI_id": 427,
      "geneSymbol": "ASAH1",
      "hgvs": [
        "ENST00000636009.1:c.375A>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000489988.1:n.375A>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS762804"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 616,
          "referenceAllele": "A",
          "start": 615
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000735",
      "geneNCBI_id": 427,
      "geneSymbol": "ASAH1",
      "hgvs": [
        "ENST00000636033.1:c.*354A>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000489617.1:n.*354A>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS762824"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 815,
          "referenceAllele": "A",
          "start": 814
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000735",
      "geneNCBI_id": 427,
      "geneSymbol": "ASAH1",
      "hgvs": [
        "ENST00000636050.1:c.*361A>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000490562.1:n.*361A>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS762838"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 398,
          "endIntronDirection": "-",
          "endIntronOffset": 950,
          "referenceAllele": "A",
          "start": 398,
          "startIntronDirection": "-",
          "startIntronOffset": 951
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000735",
      "geneNCBI_id": 427,
      "geneSymbol": "ASAH1",
      "hgvs": [
        "ENST00000636128.1:c.383-951A>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000489789.1:n.383-951A>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS762892"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 601,
          "referenceAllele": "A",
          "start": 600
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000735",
      "geneNCBI_id": 427,
      "geneSymbol": "ASAH1",
      "hgvs": [
        "ENST00000636160.1:c.*410A>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000489651.1:n.*410A>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS762916"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 545,
          "referenceAllele": "A",
          "start": 544
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000735",
      "geneNCBI_id": 427,
      "geneSymbol": "ASAH1",
      "hgvs": [
        "ENST00000636171.1:c.461A>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000489761.1:p.Asn154Ile",
        "hgvsWellDefined": "ENSP00000489761.1:p.Asn154Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS762923"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 470,
          "referenceAllele": "A",
          "start": 469
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000735",
      "geneNCBI_id": 427,
      "geneSymbol": "ASAH1",
      "hgvs": [
        "ENST00000636299.1:c.*289A>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000490202.1:n.*289A>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS763021"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 745,
          "referenceAllele": "A",
          "start": 744
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000735",
      "geneNCBI_id": 427,
      "geneSymbol": "ASAH1",
      "hgvs": [
        "ENST00000636455.1:c.566A>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000490502.1:p.Asn189Ile",
        "hgvsWellDefined": "ENSP00000490502.1:p.Asn189Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS763126"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 495,
          "referenceAllele": "A",
          "start": 494
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000735",
      "geneNCBI_id": 427,
      "geneSymbol": "ASAH1",
      "hgvs": [
        "ENST00000636494.1:c.*298A>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000490388.1:n.*298A>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS763158"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 180,
          "referenceAllele": "A",
          "start": 179
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000735",
      "geneNCBI_id": 427,
      "geneSymbol": "ASAH1",
      "hgvs": [
        "ENST00000636563.1:n.180A>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS763209"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 496,
          "referenceAllele": "A",
          "start": 495
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000735",
      "geneNCBI_id": 427,
      "geneSymbol": "ASAH1",
      "hgvs": [
        "ENST00000636577.1:c.458A>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000490027.1:p.Asn153Ile",
        "hgvsWellDefined": "ENSP00000490027.1:p.Asn153Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS763220"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 727,
          "referenceAllele": "A",
          "start": 726
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000735",
      "geneNCBI_id": 427,
      "geneSymbol": "ASAH1",
      "hgvs": [
        "ENST00000636691.1:c.323A>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000490725.1:p.Asn108Ile",
        "hgvsWellDefined": "ENSP00000490725.1:p.Asn108Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS763311"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 424,
          "referenceAllele": "A",
          "start": 423
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000735",
      "geneNCBI_id": 427,
      "geneSymbol": "ASAH1",
      "hgvs": [
        "ENST00000636701.1:c.*169A>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000489800.1:n.*169A>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS763318"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 312,
          "referenceAllele": "A",
          "start": 311
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000735",
      "geneNCBI_id": 427,
      "geneSymbol": "ASAH1",
      "hgvs": [
        "ENST00000636719.1:n.312A>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS763333"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 435,
          "referenceAllele": "A",
          "start": 434
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000735",
      "geneNCBI_id": 427,
      "geneSymbol": "ASAH1",
      "hgvs": [
        "ENST00000636815.1:c.435A>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS763402"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 517,
          "referenceAllele": "A",
          "start": 516
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000735",
      "geneNCBI_id": 427,
      "geneSymbol": "ASAH1",
      "hgvs": [
        "ENST00000636823.1:c.323A>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000490798.1:p.Asn108Ile",
        "hgvsWellDefined": "ENSP00000490798.1:p.Asn108Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS763408"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 620,
          "referenceAllele": "A",
          "start": 619
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000735",
      "geneNCBI_id": 427,
      "geneSymbol": "ASAH1",
      "hgvs": [
        "ENST00000636920.1:c.*354A>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000490437.1:n.*354A>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS763477"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 473,
          "referenceAllele": "A",
          "start": 472
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000735",
      "geneNCBI_id": 427,
      "geneSymbol": "ASAH1",
      "hgvs": [
        "ENST00000636997.1:c.431A>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000490093.1:p.Asn144Ile",
        "hgvsWellDefined": "ENSP00000490093.1:p.Asn144Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS763533"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1227,
          "referenceAllele": "A",
          "start": 1226
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000735",
      "geneNCBI_id": 427,
      "geneSymbol": "ASAH1",
      "hgvs": [
        "ENST00000637013.1:c.*886A>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000490596.1:n.*886A>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS763544"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 387,
          "referenceAllele": "A",
          "start": 386
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000735",
      "geneNCBI_id": 427,
      "geneSymbol": "ASAH1",
      "hgvs": [
        "ENST00000637014.1:n.387A>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS763545"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 552,
          "referenceAllele": "A",
          "start": 551
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000735",
      "geneNCBI_id": 427,
      "geneSymbol": "ASAH1",
      "hgvs": [
        "ENST00000637095.1:c.*298A>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000490415.1:n.*298A>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS763609"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1440,
          "referenceAllele": "A",
          "start": 1439
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000735",
      "geneNCBI_id": 427,
      "geneSymbol": "ASAH1",
      "hgvs": [
        "ENST00000637244.1:c.*1036A>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000490188.1:n.*1036A>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS763723"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1955,
          "referenceAllele": "A",
          "start": 1954
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000735",
      "geneNCBI_id": 427,
      "geneSymbol": "ASAH1",
      "hgvs": [
        "ENST00000637343.1:n.1955A>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS763798"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1125,
          "referenceAllele": "A",
          "start": 1124
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000735",
      "geneNCBI_id": 427,
      "geneSymbol": "ASAH1",
      "hgvs": [
        "ENST00000637429.1:c.*730A>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000490522.1:n.*730A>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS763856"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 902,
          "referenceAllele": "A",
          "start": 901
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000735",
      "geneNCBI_id": 427,
      "geneSymbol": "ASAH1",
      "hgvs": [
        "ENST00000637484.1:c.*480A>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000490837.1:n.*480A>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS763891"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 470,
          "referenceAllele": "A",
          "start": 469
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000735",
      "geneNCBI_id": 427,
      "geneSymbol": "ASAH1",
      "hgvs": [
        "ENST00000637528.1:c.455A>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000490801.1:p.Asn152Ile",
        "hgvsWellDefined": "ENSP00000490801.1:p.Asn152Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS763922"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 510,
          "referenceAllele": "A",
          "start": 509
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000735",
      "geneNCBI_id": 427,
      "geneSymbol": "ASAH1",
      "hgvs": [
        "ENST00000637603.1:c.488A>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000489979.1:p.Asn163Ile",
        "hgvsWellDefined": "ENSP00000489979.1:p.Asn163Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS763977"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3239,
          "referenceAllele": "A",
          "start": 3238
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000735",
      "geneNCBI_id": 427,
      "geneSymbol": "ASAH1",
      "hgvs": [
        "ENST00000637609.1:n.3239A>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS763982"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 767,
          "referenceAllele": "A",
          "start": 766
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000735",
      "geneNCBI_id": 427,
      "geneSymbol": "ASAH1",
      "hgvs": [
        "ENST00000637636.1:c.512A>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000490112.1:p.Asn171Ile",
        "hgvsWellDefined": "ENSP00000490112.1:p.Asn171Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS764001"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 532,
          "referenceAllele": "A",
          "start": 531
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000735",
      "geneNCBI_id": 427,
      "geneSymbol": "ASAH1",
      "hgvs": [
        "ENST00000637718.1:c.323A>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000490133.1:p.Asn108Ile",
        "hgvsWellDefined": "ENSP00000490133.1:p.Asn108Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS764059"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 567,
          "referenceAllele": "A",
          "start": 566
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000735",
      "geneNCBI_id": 427,
      "geneSymbol": "ASAH1",
      "hgvs": [
        "ENST00000637790.2:c.518A>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000490272.1:p.Asn173Ile",
        "hgvsWellDefined": "ENSP00000490272.1:p.Asn173Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS764110",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000637790.2:c.518A>T"
          },
          "RefSeq": {
            "hgvs": "NM_177924.5:c.518A>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000490272.1:p.Asn173Ile"
          },
          "RefSeq": {
            "hgvs": "NP_808592.2:p.Asn173Ile"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 119,
          "referenceAllele": "A",
          "start": 118
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000735",
      "geneNCBI_id": 427,
      "geneSymbol": "ASAH1",
      "hgvs": [
        "ENST00000637857.1:n.119A>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS764163"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 555,
          "referenceAllele": "A",
          "start": 554
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000735",
      "geneNCBI_id": 427,
      "geneSymbol": "ASAH1",
      "hgvs": [
        "ENST00000637922.1:c.323A>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000490071.1:p.Asn108Ile",
        "hgvsWellDefined": "ENSP00000490071.1:p.Asn108Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS764211"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 651,
          "referenceAllele": "A",
          "start": 650
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000735",
      "geneNCBI_id": 427,
      "geneSymbol": "ASAH1",
      "hgvs": [
        "ENST00000637991.1:c.491A>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000489901.1:p.Asn164Ile",
        "hgvsWellDefined": "ENSP00000489901.1:p.Asn164Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS764261"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 735,
          "referenceAllele": "A",
          "start": 734
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000735",
      "geneNCBI_id": 427,
      "geneSymbol": "ASAH1",
      "hgvs": [
        "ENST00000638028.1:n.735A>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS764285"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 574,
          "referenceAllele": "A",
          "start": 573
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000735",
      "geneNCBI_id": 427,
      "geneSymbol": "ASAH1",
      "hgvs": [
        "ENST00000638069.1:n.574A>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS764318"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 830,
          "referenceAllele": "A",
          "start": 829
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000735",
      "geneNCBI_id": 427,
      "geneSymbol": "ASAH1",
      "hgvs": [
        "ENST00000262097.10:c.518A>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000262097.6:p.Asn173Ile",
        "hgvsWellDefined": "ENSP00000262097.6:p.Asn173Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS250926"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 684,
          "referenceAllele": "A",
          "start": 683
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000735",
      "geneNCBI_id": 427,
      "geneSymbol": "ASAH1",
      "hgvs": [
        "ENST00000314146.10:c.500A>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000326970.10:p.Asn167Ile",
        "hgvsWellDefined": "ENSP00000326970.10:p.Asn167Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS256912"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 733,
          "referenceAllele": "A",
          "start": 732
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000735",
      "geneNCBI_id": 427,
      "geneSymbol": "ASAH1",
      "hgvs": [
        "ENST00000381733.8:c.566A>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000371152.4:p.Asn189Ile",
        "hgvsWellDefined": "ENSP00000371152.4:p.Asn189Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS273483"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 455,
          "referenceAllele": "A",
          "start": 454
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000735",
      "geneNCBI_id": 427,
      "geneSymbol": "ASAH1",
      "hgvs": [
        "ENST00000517409.1:n.455A>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS345092"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 388,
          "endIntronDirection": "-",
          "endIntronOffset": 41,
          "referenceAllele": "A",
          "start": 388,
          "startIntronDirection": "-",
          "startIntronOffset": 42
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000735",
      "geneNCBI_id": 427,
      "geneSymbol": "ASAH1",
      "hgvs": [
        "ENST00000519468.5:n.389-42A>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS346705"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 532,
          "referenceAllele": "A",
          "start": 531
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000735",
      "geneNCBI_id": 427,
      "geneSymbol": "ASAH1",
      "hgvs": [
        "ENST00000519545.5:n.532A>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS346770"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 755,
          "referenceAllele": "A",
          "start": 754
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000735",
      "geneNCBI_id": 427,
      "geneSymbol": "ASAH1",
      "hgvs": [
        "ENST00000520781.5:c.443A>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000427751.1:p.Asn148Ile",
        "hgvsWellDefined": "ENSP00000427751.1:p.Asn148Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS347754"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 371,
          "referenceAllele": "A",
          "start": 370
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000735",
      "geneNCBI_id": 427,
      "geneSymbol": "ASAH1",
      "hgvs": [
        "ENST00000523593.5:n.371A>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS349940"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825624599",
      "coordinates": [
        {
          "allele": "T",
          "end": 697,
          "referenceAllele": "A",
          "start": 696
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000735",
      "geneNCBI_id": 427,
      "geneSymbol": "ASAH1",
      "hgvs": [
        "NM_001127505.1:c.500A>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001120977.1:p.Asn167Ile",
        "hgvsWellDefined": "NP_001120977.1:p.Asn167Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS011631"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825624599",
      "coordinates": [
        {
          "allele": "T",
          "end": 697,
          "referenceAllele": "A",
          "start": 696
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000735",
      "geneNCBI_id": 427,
      "geneSymbol": "ASAH1",
      "hgvs": [
        "NM_001127505.2:c.500A>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001120977.1:p.Asn167Ile",
        "hgvsWellDefined": "NP_001120977.1:p.Asn167Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS011632"
    },
    {
      "@id": "http://reg.genome.network/allele/PA916011556",
      "coordinates": [
        {
          "allele": "T",
          "end": 763,
          "referenceAllele": "A",
          "start": 762
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000735",
      "geneNCBI_id": 427,
      "geneSymbol": "ASAH1",
      "hgvs": [
        "NM_004315.4:c.566A>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_004306.3:p.Asn189Ile",
        "hgvsWellDefined": "NP_004306.3:p.Asn189Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS029484"
    },
    {
      "@id": "http://reg.genome.network/allele/PA916011556",
      "coordinates": [
        {
          "allele": "T",
          "end": 763,
          "referenceAllele": "A",
          "start": 762
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000735",
      "geneNCBI_id": 427,
      "geneSymbol": "ASAH1",
      "hgvs": [
        "NM_004315.5:c.566A>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_004306.3:p.Asn189Ile",
        "hgvsWellDefined": "NP_004306.3:p.Asn189Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS029485"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2830368893",
      "coordinates": [
        {
          "allele": "T",
          "end": 830,
          "referenceAllele": "A",
          "start": 829
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000735",
      "geneNCBI_id": 427,
      "geneSymbol": "ASAH1",
      "hgvs": [
        "NM_177924.3:c.518A>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_808592.2:p.Asn173Ile",
        "hgvsWellDefined": "NP_808592.2:p.Asn173Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS043383"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2830368893",
      "coordinates": [
        {
          "allele": "T",
          "end": 830,
          "referenceAllele": "A",
          "start": 829
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000735",
      "geneNCBI_id": 427,
      "geneSymbol": "ASAH1",
      "hgvs": [
        "NM_177924.4:c.518A>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_808592.2:p.Asn173Ile",
        "hgvsWellDefined": "NP_808592.2:p.Asn173Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS043384"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 591,
          "referenceAllele": "A",
          "start": 590
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000735",
      "geneNCBI_id": 427,
      "geneSymbol": "ASAH1",
      "hgvs": [
        "XM_005273504.2:c.452A>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005273561.1:p.Asn151Ile",
        "hgvsWellDefined": "XP_005273561.1:p.Asn151Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS067626"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828108498",
      "coordinates": [
        {
          "allele": "T",
          "end": 515,
          "referenceAllele": "A",
          "start": 514
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000735",
      "geneNCBI_id": 427,
      "geneSymbol": "ASAH1",
      "hgvs": [
        "NM_001363743.1:c.323A>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001350672.1:p.Asn108Ile",
        "hgvsWellDefined": "NP_001350672.1:p.Asn108Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS523526"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 591,
          "referenceAllele": "A",
          "start": 590
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000735",
      "geneNCBI_id": 427,
      "geneSymbol": "ASAH1",
      "hgvs": [
        "XM_005273504.3:c.452A>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005273561.1:p.Asn151Ile",
        "hgvsWellDefined": "XP_005273561.1:p.Asn151Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS537465"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2830368893",
      "coordinates": [
        {
          "allele": "T",
          "end": 567,
          "referenceAllele": "A",
          "start": 566
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000735",
      "geneNCBI_id": 427,
      "geneSymbol": "ASAH1",
      "hgvs": [
        "NM_177924.5:c.518A>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_808592.2:p.Asn173Ile",
        "hgvsWellDefined": "NP_808592.2:p.Asn173Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS672816",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000637790.2:c.518A>T"
          },
          "RefSeq": {
            "hgvs": "NM_177924.5:c.518A>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000490272.1:p.Asn173Ile"
          },
          "RefSeq": {
            "hgvs": "NP_808592.2:p.Asn173Ile"
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825624599",
      "coordinates": [
        {
          "allele": "T",
          "end": 660,
          "referenceAllele": "A",
          "start": 659
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000735",
      "geneNCBI_id": 427,
      "geneSymbol": "ASAH1",
      "hgvs": [
        "NM_001127505.3:c.500A>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001120977.1:p.Asn167Ile",
        "hgvsWellDefined": "NP_001120977.1:p.Asn167Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS676901"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828108498",
      "coordinates": [
        {
          "allele": "T",
          "end": 515,
          "referenceAllele": "A",
          "start": 514
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000735",
      "geneNCBI_id": 427,
      "geneSymbol": "ASAH1",
      "hgvs": [
        "NM_001363743.2:c.323A>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001350672.1:p.Asn108Ile",
        "hgvsWellDefined": "NP_001350672.1:p.Asn108Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS690762"
    },
    {
      "@id": "http://reg.genome.network/allele/PA916011556",
      "coordinates": [
        {
          "allele": "T",
          "end": 726,
          "referenceAllele": "A",
          "start": 725
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000735",
      "geneNCBI_id": 427,
      "geneSymbol": "ASAH1",
      "hgvs": [
        "NM_004315.6:c.566A>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_004306.3:p.Asn189Ile",
        "hgvsWellDefined": "NP_004306.3:p.Asn189Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS696102"
    }
  ],
  "type": "nucleotide"
}