{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA2410959358",
  "communityStandardTitle": [
    "NM_000487.6(ARSA):c.511G= (p.Asp171=)"
  ],
  "externalRecords": {
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/74315466",
        "rs": 74315466
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "22",
      "coordinates": [
        {
          "allele": "C",
          "end": 50627007,
          "referenceAllele": "C",
          "start": 50627006
        }
      ],
      "hgvs": [
        "NC_000022.11:g.50627007C=",
        "CM000684.2:g.50627007C="
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000070"
    },
    {
      "chromosome": "22",
      "coordinates": [
        {
          "allele": "C",
          "end": 51065435,
          "referenceAllele": "C",
          "start": 51065434
        }
      ],
      "hgvs": [
        "NC_000022.10:g.51065435C=",
        "CM000684.1:g.51065435C="
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000046"
    },
    {
      "chromosome": "22",
      "coordinates": [
        {
          "allele": "C",
          "end": 49412301,
          "referenceAllele": "C",
          "start": 49412300
        }
      ],
      "hgvs": [
        "NC_000022.9:g.49412301C="
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000022"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 6173,
          "referenceAllele": "G",
          "start": 6172
        }
      ],
      "hgvs": [
        "NG_009260.2:g.6173G="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001525"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 884,
          "referenceAllele": "G",
          "start": 883
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000713",
      "geneNCBI_id": 410,
      "geneSymbol": "ARSA",
      "hgvs": [
        "ENST00000216124.10:c.511G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000216124.5:p.Asp171="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS740272",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000216124.10:c.511G="
          },
          "RefSeq": {
            "hgvs": "NM_000487.6:c.511G="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000216124.5:p.Asp171="
          },
          "RefSeq": {
            "hgvs": "NP_000478.3:p.Asp171="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 904,
          "referenceAllele": "G",
          "start": 903
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000713",
      "geneNCBI_id": 410,
      "geneSymbol": "ARSA",
      "hgvs": [
        "ENST00000216124.9:c.511G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000216124.5:p.Asp171="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247952"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 749,
          "referenceAllele": "G",
          "start": 748
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000713",
      "geneNCBI_id": 410,
      "geneSymbol": "ARSA",
      "hgvs": [
        "ENST00000356098.9:c.511G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000348406.5:p.Asp171="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS263645"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 693,
          "referenceAllele": "G",
          "start": 692
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000713",
      "geneNCBI_id": 410,
      "geneSymbol": "ARSA",
      "hgvs": [
        "ENST00000395619.3:c.511G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000378981.3:p.Asp171="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS276795"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 782,
          "referenceAllele": "G",
          "start": 781
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000713",
      "geneNCBI_id": 410,
      "geneSymbol": "ARSA",
      "hgvs": [
        "ENST00000395621.7:c.511G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000378983.3:p.Asp171="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS276797"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 515,
          "referenceAllele": "G",
          "start": 514
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000713",
      "geneNCBI_id": 410,
      "geneSymbol": "ARSA",
      "hgvs": [
        "ENST00000453344.6:c.253G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000412542.2:p.Asp85="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS302061"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1015,
          "referenceAllele": "G",
          "start": 1014
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000713",
      "geneNCBI_id": 410,
      "geneSymbol": "ARSA",
      "hgvs": [
        "ENST00000551731.1:n.1015G="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS368834"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825188644",
      "coordinates": [
        {
          "allele": "G",
          "end": 905,
          "referenceAllele": "G",
          "start": 904
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000713",
      "geneNCBI_id": 410,
      "geneSymbol": "ARSA",
      "hgvs": [
        "NM_000487.5:c.511G="
      ],
      "proteinEffect": {
        "hgvs": "NP_000478.3:p.Asp171="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006541"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825518219",
      "coordinates": [
        {
          "allele": "G",
          "end": 800,
          "referenceAllele": "G",
          "start": 799
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000713",
      "geneNCBI_id": 410,
      "geneSymbol": "ARSA",
      "hgvs": [
        "NM_001085425.2:c.511G="
      ],
      "proteinEffect": {
        "hgvs": "NP_001078894.2:p.Asp171="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS010459"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825518925",
      "coordinates": [
        {
          "allele": "G",
          "end": 752,
          "referenceAllele": "G",
          "start": 751
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000713",
      "geneNCBI_id": 410,
      "geneSymbol": "ARSA",
      "hgvs": [
        "NM_001085426.2:c.511G="
      ],
      "proteinEffect": {
        "hgvs": "NP_001078895.2:p.Asp171="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS010460"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825519556",
      "coordinates": [
        {
          "allele": "G",
          "end": 707,
          "referenceAllele": "G",
          "start": 706
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000713",
      "geneNCBI_id": 410,
      "geneSymbol": "ARSA",
      "hgvs": [
        "NM_001085427.2:c.511G="
      ],
      "proteinEffect": {
        "hgvs": "NP_001078896.2:p.Asp171="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS010461"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825519858",
      "coordinates": [
        {
          "allele": "G",
          "end": 515,
          "referenceAllele": "G",
          "start": 514
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000713",
      "geneNCBI_id": 410,
      "geneSymbol": "ARSA",
      "hgvs": [
        "NM_001085428.2:c.253G="
      ],
      "proteinEffect": {
        "hgvs": "NP_001078897.1:p.Asp85="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS010462"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 469,
          "referenceAllele": "G",
          "start": 468
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000713",
      "geneNCBI_id": 410,
      "geneSymbol": "ARSA",
      "hgvs": [
        "XM_011530690.1:c.253G="
      ],
      "proteinEffect": {
        "hgvs": "XP_011528992.1:p.Asp85="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS097733"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 883,
          "referenceAllele": "G",
          "start": 882
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000713",
      "geneNCBI_id": 410,
      "geneSymbol": "ARSA",
      "hgvs": [
        "XM_011530691.1:c.511G="
      ],
      "proteinEffect": {
        "hgvs": "XP_011528993.1:p.Asp171="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS097734"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828065097",
      "coordinates": [
        {
          "allele": "G",
          "end": 470,
          "referenceAllele": "G",
          "start": 469
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000713",
      "geneNCBI_id": 410,
      "geneSymbol": "ARSA",
      "hgvs": [
        "NM_001362782.1:c.253G="
      ],
      "proteinEffect": {
        "hgvs": "NP_001349711.1:p.Asp85="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS523060"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 844,
          "referenceAllele": "G",
          "start": 843
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000713",
      "geneNCBI_id": 410,
      "geneSymbol": "ARSA",
      "hgvs": [
        "XM_011530691.3:c.511G="
      ],
      "proteinEffect": {
        "hgvs": "XP_011528993.1:p.Asp171="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS550069"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 724,
          "referenceAllele": "G",
          "start": 723
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000713",
      "geneNCBI_id": 410,
      "geneSymbol": "ARSA",
      "hgvs": [
        "XM_017028800.1:c.511G="
      ],
      "proteinEffect": {
        "hgvs": "XP_016884289.1:p.Asp171="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS578460"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 724,
          "referenceAllele": "G",
          "start": 723
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000713",
      "geneNCBI_id": 410,
      "geneSymbol": "ARSA",
      "hgvs": [
        "XM_024452241.1:c.511G="
      ],
      "proteinEffect": {
        "hgvs": "XP_024308009.1:p.Asp171="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS585738"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825188644",
      "coordinates": [
        {
          "allele": "G",
          "end": 884,
          "referenceAllele": "G",
          "start": 883
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000713",
      "geneNCBI_id": 410,
      "geneSymbol": "ARSA",
      "hgvs": [
        "NM_000487.6:c.511G="
      ],
      "proteinEffect": {
        "hgvs": "NP_000478.3:p.Asp171="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS662459",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000216124.10:c.511G="
          },
          "RefSeq": {
            "hgvs": "NM_000487.6:c.511G="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000216124.5:p.Asp171="
          },
          "RefSeq": {
            "hgvs": "NP_000478.3:p.Asp171="
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825518219",
      "coordinates": [
        {
          "allele": "G",
          "end": 779,
          "referenceAllele": "G",
          "start": 778
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000713",
      "geneNCBI_id": 410,
      "geneSymbol": "ARSA",
      "hgvs": [
        "NM_001085425.3:c.511G="
      ],
      "proteinEffect": {
        "hgvs": "NP_001078894.2:p.Asp171="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS676375"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825518925",
      "coordinates": [
        {
          "allele": "G",
          "end": 731,
          "referenceAllele": "G",
          "start": 730
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000713",
      "geneNCBI_id": 410,
      "geneSymbol": "ARSA",
      "hgvs": [
        "NM_001085426.3:c.511G="
      ],
      "proteinEffect": {
        "hgvs": "NP_001078895.2:p.Asp171="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS676376"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825519556",
      "coordinates": [
        {
          "allele": "G",
          "end": 686,
          "referenceAllele": "G",
          "start": 685
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000713",
      "geneNCBI_id": 410,
      "geneSymbol": "ARSA",
      "hgvs": [
        "NM_001085427.3:c.511G="
      ],
      "proteinEffect": {
        "hgvs": "NP_001078896.2:p.Asp171="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS676377"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825519858",
      "coordinates": [
        {
          "allele": "G",
          "end": 494,
          "referenceAllele": "G",
          "start": 493
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000713",
      "geneNCBI_id": 410,
      "geneSymbol": "ARSA",
      "hgvs": [
        "NM_001085428.3:c.253G="
      ],
      "proteinEffect": {
        "hgvs": "NP_001078897.1:p.Asp85="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS676378"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828065097",
      "coordinates": [
        {
          "allele": "G",
          "end": 449,
          "referenceAllele": "G",
          "start": 448
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000713",
      "geneNCBI_id": 410,
      "geneSymbol": "ARSA",
      "hgvs": [
        "NM_001362782.2:c.253G="
      ],
      "proteinEffect": {
        "hgvs": "NP_001349711.1:p.Asp85="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS690538"
    }
  ],
  "type": "nucleotide"
}