{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA2410959348",
  "communityStandardTitle": [
    "NM_000487.6(ARSA):c.542T= (p.Ile181=)"
  ],
  "externalRecords": {
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/74315457",
        "rs": 74315457
      },
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/776748338",
        "rs": 776748338
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "22",
      "coordinates": [
        {
          "allele": "A",
          "end": 50626976,
          "referenceAllele": "A",
          "start": 50626975
        }
      ],
      "hgvs": [
        "NC_000022.11:g.50626976A=",
        "CM000684.2:g.50626976A="
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000070"
    },
    {
      "chromosome": "22",
      "coordinates": [
        {
          "allele": "A",
          "end": 51065404,
          "referenceAllele": "A",
          "start": 51065403
        }
      ],
      "hgvs": [
        "NC_000022.10:g.51065404A=",
        "CM000684.1:g.51065404A="
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000046"
    },
    {
      "chromosome": "22",
      "coordinates": [
        {
          "allele": "A",
          "end": 49412270,
          "referenceAllele": "A",
          "start": 49412269
        }
      ],
      "hgvs": [
        "NC_000022.9:g.49412270A="
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000022"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 6204,
          "referenceAllele": "T",
          "start": 6203
        }
      ],
      "hgvs": [
        "NG_009260.2:g.6204T="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001525"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 915,
          "referenceAllele": "T",
          "start": 914
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000713",
      "geneNCBI_id": 410,
      "geneSymbol": "ARSA",
      "hgvs": [
        "ENST00000216124.10:c.542T="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000216124.5:p.Ile181="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS740272",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000216124.10:c.542T="
          },
          "RefSeq": {
            "hgvs": "NM_000487.6:c.542T="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000216124.5:p.Ile181="
          },
          "RefSeq": {
            "hgvs": "NP_000478.3:p.Ile181="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 935,
          "referenceAllele": "T",
          "start": 934
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000713",
      "geneNCBI_id": 410,
      "geneSymbol": "ARSA",
      "hgvs": [
        "ENST00000216124.9:c.542T="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000216124.5:p.Ile181="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247952"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 780,
          "referenceAllele": "T",
          "start": 779
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000713",
      "geneNCBI_id": 410,
      "geneSymbol": "ARSA",
      "hgvs": [
        "ENST00000356098.9:c.542T="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000348406.5:p.Ile181="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS263645"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 724,
          "referenceAllele": "T",
          "start": 723
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000713",
      "geneNCBI_id": 410,
      "geneSymbol": "ARSA",
      "hgvs": [
        "ENST00000395619.3:c.542T="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000378981.3:p.Ile181="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS276795"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 813,
          "referenceAllele": "T",
          "start": 812
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000713",
      "geneNCBI_id": 410,
      "geneSymbol": "ARSA",
      "hgvs": [
        "ENST00000395621.7:c.542T="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000378983.3:p.Ile181="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS276797"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 546,
          "referenceAllele": "T",
          "start": 545
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000713",
      "geneNCBI_id": 410,
      "geneSymbol": "ARSA",
      "hgvs": [
        "ENST00000453344.6:c.284T="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000412542.2:p.Ile95="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS302061"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1046,
          "referenceAllele": "T",
          "start": 1045
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000713",
      "geneNCBI_id": 410,
      "geneSymbol": "ARSA",
      "hgvs": [
        "ENST00000551731.1:n.1046T="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS368834"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825188661",
      "coordinates": [
        {
          "allele": "T",
          "end": 936,
          "referenceAllele": "T",
          "start": 935
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000713",
      "geneNCBI_id": 410,
      "geneSymbol": "ARSA",
      "hgvs": [
        "NM_000487.5:c.542T="
      ],
      "proteinEffect": {
        "hgvs": "NP_000478.3:p.Ile181="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006541"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825518230",
      "coordinates": [
        {
          "allele": "T",
          "end": 831,
          "referenceAllele": "T",
          "start": 830
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000713",
      "geneNCBI_id": 410,
      "geneSymbol": "ARSA",
      "hgvs": [
        "NM_001085425.2:c.542T="
      ],
      "proteinEffect": {
        "hgvs": "NP_001078894.2:p.Ile181="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS010459"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825518938",
      "coordinates": [
        {
          "allele": "T",
          "end": 783,
          "referenceAllele": "T",
          "start": 782
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000713",
      "geneNCBI_id": 410,
      "geneSymbol": "ARSA",
      "hgvs": [
        "NM_001085426.2:c.542T="
      ],
      "proteinEffect": {
        "hgvs": "NP_001078895.2:p.Ile181="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS010460"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825519570",
      "coordinates": [
        {
          "allele": "T",
          "end": 738,
          "referenceAllele": "T",
          "start": 737
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000713",
      "geneNCBI_id": 410,
      "geneSymbol": "ARSA",
      "hgvs": [
        "NM_001085427.2:c.542T="
      ],
      "proteinEffect": {
        "hgvs": "NP_001078896.2:p.Ile181="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS010461"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825519871",
      "coordinates": [
        {
          "allele": "T",
          "end": 546,
          "referenceAllele": "T",
          "start": 545
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000713",
      "geneNCBI_id": 410,
      "geneSymbol": "ARSA",
      "hgvs": [
        "NM_001085428.2:c.284T="
      ],
      "proteinEffect": {
        "hgvs": "NP_001078897.1:p.Ile95="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS010462"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 500,
          "referenceAllele": "T",
          "start": 499
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000713",
      "geneNCBI_id": 410,
      "geneSymbol": "ARSA",
      "hgvs": [
        "XM_011530690.1:c.284T="
      ],
      "proteinEffect": {
        "hgvs": "XP_011528992.1:p.Ile95="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS097733"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 914,
          "referenceAllele": "T",
          "start": 913
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000713",
      "geneNCBI_id": 410,
      "geneSymbol": "ARSA",
      "hgvs": [
        "XM_011530691.1:c.542T="
      ],
      "proteinEffect": {
        "hgvs": "XP_011528993.1:p.Ile181="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS097734"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828065101",
      "coordinates": [
        {
          "allele": "T",
          "end": 501,
          "referenceAllele": "T",
          "start": 500
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000713",
      "geneNCBI_id": 410,
      "geneSymbol": "ARSA",
      "hgvs": [
        "NM_001362782.1:c.284T="
      ],
      "proteinEffect": {
        "hgvs": "NP_001349711.1:p.Ile95="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS523060"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 875,
          "referenceAllele": "T",
          "start": 874
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000713",
      "geneNCBI_id": 410,
      "geneSymbol": "ARSA",
      "hgvs": [
        "XM_011530691.3:c.542T="
      ],
      "proteinEffect": {
        "hgvs": "XP_011528993.1:p.Ile181="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS550069"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 755,
          "referenceAllele": "T",
          "start": 754
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000713",
      "geneNCBI_id": 410,
      "geneSymbol": "ARSA",
      "hgvs": [
        "XM_017028800.1:c.542T="
      ],
      "proteinEffect": {
        "hgvs": "XP_016884289.1:p.Ile181="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS578460"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 755,
          "referenceAllele": "T",
          "start": 754
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000713",
      "geneNCBI_id": 410,
      "geneSymbol": "ARSA",
      "hgvs": [
        "XM_024452241.1:c.542T="
      ],
      "proteinEffect": {
        "hgvs": "XP_024308009.1:p.Ile181="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS585738"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825188661",
      "coordinates": [
        {
          "allele": "T",
          "end": 915,
          "referenceAllele": "T",
          "start": 914
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000713",
      "geneNCBI_id": 410,
      "geneSymbol": "ARSA",
      "hgvs": [
        "NM_000487.6:c.542T="
      ],
      "proteinEffect": {
        "hgvs": "NP_000478.3:p.Ile181="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS662459",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000216124.10:c.542T="
          },
          "RefSeq": {
            "hgvs": "NM_000487.6:c.542T="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000216124.5:p.Ile181="
          },
          "RefSeq": {
            "hgvs": "NP_000478.3:p.Ile181="
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825518230",
      "coordinates": [
        {
          "allele": "T",
          "end": 810,
          "referenceAllele": "T",
          "start": 809
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000713",
      "geneNCBI_id": 410,
      "geneSymbol": "ARSA",
      "hgvs": [
        "NM_001085425.3:c.542T="
      ],
      "proteinEffect": {
        "hgvs": "NP_001078894.2:p.Ile181="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS676375"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825518938",
      "coordinates": [
        {
          "allele": "T",
          "end": 762,
          "referenceAllele": "T",
          "start": 761
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000713",
      "geneNCBI_id": 410,
      "geneSymbol": "ARSA",
      "hgvs": [
        "NM_001085426.3:c.542T="
      ],
      "proteinEffect": {
        "hgvs": "NP_001078895.2:p.Ile181="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS676376"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825519570",
      "coordinates": [
        {
          "allele": "T",
          "end": 717,
          "referenceAllele": "T",
          "start": 716
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000713",
      "geneNCBI_id": 410,
      "geneSymbol": "ARSA",
      "hgvs": [
        "NM_001085427.3:c.542T="
      ],
      "proteinEffect": {
        "hgvs": "NP_001078896.2:p.Ile181="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS676377"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825519871",
      "coordinates": [
        {
          "allele": "T",
          "end": 525,
          "referenceAllele": "T",
          "start": 524
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000713",
      "geneNCBI_id": 410,
      "geneSymbol": "ARSA",
      "hgvs": [
        "NM_001085428.3:c.284T="
      ],
      "proteinEffect": {
        "hgvs": "NP_001078897.1:p.Ile95="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS676378"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828065101",
      "coordinates": [
        {
          "allele": "T",
          "end": 480,
          "referenceAllele": "T",
          "start": 479
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000713",
      "geneNCBI_id": 410,
      "geneSymbol": "ARSA",
      "hgvs": [
        "NM_001362782.2:c.284T="
      ],
      "proteinEffect": {
        "hgvs": "NP_001349711.1:p.Ile95="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS690538"
    }
  ],
  "type": "nucleotide"
}