{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA412177976",
  "communityStandardTitle": [
    "NM_000487.6(ARSA):c.488G>C (p.Cys163Ser)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=1200332[alleleid]",
        "alleleId": 1200332,
        "preferredName": "NM_000487.6(ARSA):c.488G>C (p.Cys163Ser)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/1210332",
        "RCV": [
          "RCV001580606"
        ],
        "variationId": 1210332
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr22:g.51065458C>G?assembly=hg19",
        "id": "chr22:g.51065458C>G"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr22:g.50627030C>G?assembly=hg38",
        "id": "chr22:g.50627030C>G"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/1430695346",
        "rs": 1430695346
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "22",
      "coordinates": [
        {
          "allele": "G",
          "end": 50627030,
          "referenceAllele": "C",
          "start": 50627029
        }
      ],
      "hgvs": [
        "NC_000022.11:g.50627030C>G",
        "CM000684.2:g.50627030C>G"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000070"
    },
    {
      "chromosome": "22",
      "coordinates": [
        {
          "allele": "G",
          "end": 51065458,
          "referenceAllele": "C",
          "start": 51065457
        }
      ],
      "hgvs": [
        "NC_000022.10:g.51065458C>G",
        "CM000684.1:g.51065458C>G"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000046"
    },
    {
      "chromosome": "22",
      "coordinates": [
        {
          "allele": "G",
          "end": 49412324,
          "referenceAllele": "C",
          "start": 49412323
        }
      ],
      "hgvs": [
        "NC_000022.9:g.49412324C>G"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000022"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 6150,
          "referenceAllele": "G",
          "start": 6149
        }
      ],
      "hgvs": [
        "NG_009260.2:g.6150G>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001525"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 861,
          "referenceAllele": "G",
          "start": 860
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000713",
      "geneNCBI_id": 410,
      "geneSymbol": "ARSA",
      "hgvs": [
        "ENST00000216124.10:c.488G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000216124.5:p.Cys163Ser",
        "hgvsWellDefined": "ENSP00000216124.5:p.Cys163Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS740272",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000216124.10:c.488G>C"
          },
          "RefSeq": {
            "hgvs": "NM_000487.6:c.488G>C"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000216124.5:p.Cys163Ser"
          },
          "RefSeq": {
            "hgvs": "NP_000478.3:p.Cys163Ser"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 881,
          "referenceAllele": "G",
          "start": 880
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000713",
      "geneNCBI_id": 410,
      "geneSymbol": "ARSA",
      "hgvs": [
        "ENST00000216124.9:c.488G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000216124.5:p.Cys163Ser",
        "hgvsWellDefined": "ENSP00000216124.5:p.Cys163Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247952"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 726,
          "referenceAllele": "G",
          "start": 725
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000713",
      "geneNCBI_id": 410,
      "geneSymbol": "ARSA",
      "hgvs": [
        "ENST00000356098.9:c.488G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000348406.5:p.Cys163Ser",
        "hgvsWellDefined": "ENSP00000348406.5:p.Cys163Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS263645"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 670,
          "referenceAllele": "G",
          "start": 669
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000713",
      "geneNCBI_id": 410,
      "geneSymbol": "ARSA",
      "hgvs": [
        "ENST00000395619.3:c.488G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000378981.3:p.Cys163Ser",
        "hgvsWellDefined": "ENSP00000378981.3:p.Cys163Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS276795"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 759,
          "referenceAllele": "G",
          "start": 758
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000713",
      "geneNCBI_id": 410,
      "geneSymbol": "ARSA",
      "hgvs": [
        "ENST00000395621.7:c.488G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000378983.3:p.Cys163Ser",
        "hgvsWellDefined": "ENSP00000378983.3:p.Cys163Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS276797"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 492,
          "referenceAllele": "G",
          "start": 491
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000713",
      "geneNCBI_id": 410,
      "geneSymbol": "ARSA",
      "hgvs": [
        "ENST00000453344.6:c.230G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000412542.2:p.Cys77Ser",
        "hgvsWellDefined": "ENSP00000412542.2:p.Cys77Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS302061"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 992,
          "referenceAllele": "G",
          "start": 991
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000713",
      "geneNCBI_id": 410,
      "geneSymbol": "ARSA",
      "hgvs": [
        "ENST00000551731.1:n.992G>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS368834"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825188623",
      "coordinates": [
        {
          "allele": "C",
          "end": 882,
          "referenceAllele": "G",
          "start": 881
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000713",
      "geneNCBI_id": 410,
      "geneSymbol": "ARSA",
      "hgvs": [
        "NM_000487.5:c.488G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_000478.3:p.Cys163Ser",
        "hgvsWellDefined": "NP_000478.3:p.Cys163Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006541"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825518205",
      "coordinates": [
        {
          "allele": "C",
          "end": 777,
          "referenceAllele": "G",
          "start": 776
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000713",
      "geneNCBI_id": 410,
      "geneSymbol": "ARSA",
      "hgvs": [
        "NM_001085425.2:c.488G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001078894.2:p.Cys163Ser",
        "hgvsWellDefined": "NP_001078894.2:p.Cys163Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS010459"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825518914",
      "coordinates": [
        {
          "allele": "C",
          "end": 729,
          "referenceAllele": "G",
          "start": 728
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000713",
      "geneNCBI_id": 410,
      "geneSymbol": "ARSA",
      "hgvs": [
        "NM_001085426.2:c.488G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001078895.2:p.Cys163Ser",
        "hgvsWellDefined": "NP_001078895.2:p.Cys163Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS010460"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825519545",
      "coordinates": [
        {
          "allele": "C",
          "end": 684,
          "referenceAllele": "G",
          "start": 683
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000713",
      "geneNCBI_id": 410,
      "geneSymbol": "ARSA",
      "hgvs": [
        "NM_001085427.2:c.488G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001078896.2:p.Cys163Ser",
        "hgvsWellDefined": "NP_001078896.2:p.Cys163Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS010461"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825519846",
      "coordinates": [
        {
          "allele": "C",
          "end": 492,
          "referenceAllele": "G",
          "start": 491
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000713",
      "geneNCBI_id": 410,
      "geneSymbol": "ARSA",
      "hgvs": [
        "NM_001085428.2:c.230G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001078897.1:p.Cys77Ser",
        "hgvsWellDefined": "NP_001078897.1:p.Cys77Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS010462"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 446,
          "referenceAllele": "G",
          "start": 445
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000713",
      "geneNCBI_id": 410,
      "geneSymbol": "ARSA",
      "hgvs": [
        "XM_011530690.1:c.230G>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011528992.1:p.Cys77Ser",
        "hgvsWellDefined": "XP_011528992.1:p.Cys77Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS097733"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 860,
          "referenceAllele": "G",
          "start": 859
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000713",
      "geneNCBI_id": 410,
      "geneSymbol": "ARSA",
      "hgvs": [
        "XM_011530691.1:c.488G>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011528993.1:p.Cys163Ser",
        "hgvsWellDefined": "XP_011528993.1:p.Cys163Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS097734"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2499252833",
      "coordinates": [
        {
          "allele": "C",
          "end": 447,
          "referenceAllele": "G",
          "start": 446
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000713",
      "geneNCBI_id": 410,
      "geneSymbol": "ARSA",
      "hgvs": [
        "NM_001362782.1:c.230G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001349711.1:p.Cys77Ser",
        "hgvsWellDefined": "NP_001349711.1:p.Cys77Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS523060"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 821,
          "referenceAllele": "G",
          "start": 820
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000713",
      "geneNCBI_id": 410,
      "geneSymbol": "ARSA",
      "hgvs": [
        "XM_011530691.3:c.488G>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011528993.1:p.Cys163Ser",
        "hgvsWellDefined": "XP_011528993.1:p.Cys163Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS550069"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 701,
          "referenceAllele": "G",
          "start": 700
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000713",
      "geneNCBI_id": 410,
      "geneSymbol": "ARSA",
      "hgvs": [
        "XM_017028800.1:c.488G>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_016884289.1:p.Cys163Ser",
        "hgvsWellDefined": "XP_016884289.1:p.Cys163Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS578460"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 701,
          "referenceAllele": "G",
          "start": 700
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000713",
      "geneNCBI_id": 410,
      "geneSymbol": "ARSA",
      "hgvs": [
        "XM_024452241.1:c.488G>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_024308009.1:p.Cys163Ser",
        "hgvsWellDefined": "XP_024308009.1:p.Cys163Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS585738"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825188623",
      "coordinates": [
        {
          "allele": "C",
          "end": 861,
          "referenceAllele": "G",
          "start": 860
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000713",
      "geneNCBI_id": 410,
      "geneSymbol": "ARSA",
      "hgvs": [
        "NM_000487.6:c.488G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_000478.3:p.Cys163Ser",
        "hgvsWellDefined": "NP_000478.3:p.Cys163Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS662459",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000216124.10:c.488G>C"
          },
          "RefSeq": {
            "hgvs": "NM_000487.6:c.488G>C"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000216124.5:p.Cys163Ser"
          },
          "RefSeq": {
            "hgvs": "NP_000478.3:p.Cys163Ser"
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825518205",
      "coordinates": [
        {
          "allele": "C",
          "end": 756,
          "referenceAllele": "G",
          "start": 755
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000713",
      "geneNCBI_id": 410,
      "geneSymbol": "ARSA",
      "hgvs": [
        "NM_001085425.3:c.488G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001078894.2:p.Cys163Ser",
        "hgvsWellDefined": "NP_001078894.2:p.Cys163Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS676375"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825518914",
      "coordinates": [
        {
          "allele": "C",
          "end": 708,
          "referenceAllele": "G",
          "start": 707
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000713",
      "geneNCBI_id": 410,
      "geneSymbol": "ARSA",
      "hgvs": [
        "NM_001085426.3:c.488G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001078895.2:p.Cys163Ser",
        "hgvsWellDefined": "NP_001078895.2:p.Cys163Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS676376"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825519545",
      "coordinates": [
        {
          "allele": "C",
          "end": 663,
          "referenceAllele": "G",
          "start": 662
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000713",
      "geneNCBI_id": 410,
      "geneSymbol": "ARSA",
      "hgvs": [
        "NM_001085427.3:c.488G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001078896.2:p.Cys163Ser",
        "hgvsWellDefined": "NP_001078896.2:p.Cys163Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS676377"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825519846",
      "coordinates": [
        {
          "allele": "C",
          "end": 471,
          "referenceAllele": "G",
          "start": 470
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000713",
      "geneNCBI_id": 410,
      "geneSymbol": "ARSA",
      "hgvs": [
        "NM_001085428.3:c.230G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001078897.1:p.Cys77Ser",
        "hgvsWellDefined": "NP_001078897.1:p.Cys77Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS676378"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2499252833",
      "coordinates": [
        {
          "allele": "C",
          "end": 426,
          "referenceAllele": "G",
          "start": 425
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000713",
      "geneNCBI_id": 410,
      "geneSymbol": "ARSA",
      "hgvs": [
        "NM_001362782.2:c.230G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001349711.1:p.Cys77Ser",
        "hgvsWellDefined": "NP_001349711.1:p.Cys77Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS690538"
    }
  ],
  "type": "nucleotide"
}