{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA412171445",
  "communityStandardTitle": [
    "NM_000487.6(ARSA):c.1079T>C (p.Leu360Pro)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=962078[alleleid]",
        "alleleId": 962078,
        "preferredName": "NM_000487.6(ARSA):c.1079T>C (p.Leu360Pro)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/973787",
        "RCV": [
          "RCV001250460",
          "RCV001573988"
        ],
        "variationId": 973787
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr22:g.51064392A>G?assembly=hg19",
        "id": "chr22:g.51064392A>G"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr22:g.50625964A>G?assembly=hg38",
        "id": "chr22:g.50625964A>G"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/2082658031",
        "rs": 2082658031
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "22",
      "coordinates": [
        {
          "allele": "G",
          "end": 50625964,
          "referenceAllele": "A",
          "start": 50625963
        }
      ],
      "hgvs": [
        "NC_000022.11:g.50625964A>G",
        "CM000684.2:g.50625964A>G"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000070"
    },
    {
      "chromosome": "22",
      "coordinates": [
        {
          "allele": "G",
          "end": 51064392,
          "referenceAllele": "A",
          "start": 51064391
        }
      ],
      "hgvs": [
        "NC_000022.10:g.51064392A>G",
        "CM000684.1:g.51064392A>G"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000046"
    },
    {
      "chromosome": "22",
      "coordinates": [
        {
          "allele": "G",
          "end": 49411258,
          "referenceAllele": "A",
          "start": 49411257
        }
      ],
      "hgvs": [
        "NC_000022.9:g.49411258A>G"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000022"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 7216,
          "referenceAllele": "T",
          "start": 7215
        }
      ],
      "hgvs": [
        "NG_009260.2:g.7216T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001525"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1452,
          "referenceAllele": "T",
          "start": 1451
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000713",
      "geneNCBI_id": 410,
      "geneSymbol": "ARSA",
      "hgvs": [
        "ENST00000216124.10:c.1079T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000216124.5:p.Leu360Pro",
        "hgvsWellDefined": "ENSP00000216124.5:p.Leu360Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS740272",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000216124.10:c.1079T>C"
          },
          "RefSeq": {
            "hgvs": "NM_000487.6:c.1079T>C"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000216124.5:p.Leu360Pro"
          },
          "RefSeq": {
            "hgvs": "NP_000478.3:p.Leu360Pro"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1472,
          "referenceAllele": "T",
          "start": 1471
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000713",
      "geneNCBI_id": 410,
      "geneSymbol": "ARSA",
      "hgvs": [
        "ENST00000216124.9:c.1079T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000216124.5:p.Leu360Pro",
        "hgvsWellDefined": "ENSP00000216124.5:p.Leu360Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247952"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1317,
          "referenceAllele": "T",
          "start": 1316
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000713",
      "geneNCBI_id": 410,
      "geneSymbol": "ARSA",
      "hgvs": [
        "ENST00000356098.9:c.1079T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000348406.5:p.Leu360Pro",
        "hgvsWellDefined": "ENSP00000348406.5:p.Leu360Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS263645"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1261,
          "referenceAllele": "T",
          "start": 1260
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000713",
      "geneNCBI_id": 410,
      "geneSymbol": "ARSA",
      "hgvs": [
        "ENST00000395619.3:c.1079T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000378981.3:p.Leu360Pro",
        "hgvsWellDefined": "ENSP00000378981.3:p.Leu360Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS276795"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1350,
          "referenceAllele": "T",
          "start": 1349
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000713",
      "geneNCBI_id": 410,
      "geneSymbol": "ARSA",
      "hgvs": [
        "ENST00000395621.7:c.1079T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000378983.3:p.Leu360Pro",
        "hgvsWellDefined": "ENSP00000378983.3:p.Leu360Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS276797"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1083,
          "referenceAllele": "T",
          "start": 1082
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000713",
      "geneNCBI_id": 410,
      "geneSymbol": "ARSA",
      "hgvs": [
        "ENST00000453344.6:c.821T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000412542.2:p.Leu274Pro",
        "hgvsWellDefined": "ENSP00000412542.2:p.Leu274Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS302061"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825189026",
      "coordinates": [
        {
          "allele": "C",
          "end": 1473,
          "referenceAllele": "T",
          "start": 1472
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000713",
      "geneNCBI_id": 410,
      "geneSymbol": "ARSA",
      "hgvs": [
        "NM_000487.5:c.1079T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_000478.3:p.Leu360Pro",
        "hgvsWellDefined": "NP_000478.3:p.Leu360Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006541"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825518502",
      "coordinates": [
        {
          "allele": "C",
          "end": 1368,
          "referenceAllele": "T",
          "start": 1367
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000713",
      "geneNCBI_id": 410,
      "geneSymbol": "ARSA",
      "hgvs": [
        "NM_001085425.2:c.1079T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001078894.2:p.Leu360Pro",
        "hgvsWellDefined": "NP_001078894.2:p.Leu360Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS010459"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825519210",
      "coordinates": [
        {
          "allele": "C",
          "end": 1320,
          "referenceAllele": "T",
          "start": 1319
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000713",
      "geneNCBI_id": 410,
      "geneSymbol": "ARSA",
      "hgvs": [
        "NM_001085426.2:c.1079T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001078895.2:p.Leu360Pro",
        "hgvsWellDefined": "NP_001078895.2:p.Leu360Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS010460"
    },
    {
      "@id": "http://reg.genome.network/allele/PA1139679285",
      "coordinates": [
        {
          "allele": "C",
          "end": 1275,
          "referenceAllele": "T",
          "start": 1274
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000713",
      "geneNCBI_id": 410,
      "geneSymbol": "ARSA",
      "hgvs": [
        "NM_001085427.2:c.1079T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001078896.2:p.Leu360Pro",
        "hgvsWellDefined": "NP_001078896.2:p.Leu360Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS010461"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825520144",
      "coordinates": [
        {
          "allele": "C",
          "end": 1083,
          "referenceAllele": "T",
          "start": 1082
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000713",
      "geneNCBI_id": 410,
      "geneSymbol": "ARSA",
      "hgvs": [
        "NM_001085428.2:c.821T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001078897.1:p.Leu274Pro",
        "hgvsWellDefined": "NP_001078897.1:p.Leu274Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS010462"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1037,
          "referenceAllele": "T",
          "start": 1036
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000713",
      "geneNCBI_id": 410,
      "geneSymbol": "ARSA",
      "hgvs": [
        "XM_011530690.1:c.821T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011528992.1:p.Leu274Pro",
        "hgvsWellDefined": "XP_011528992.1:p.Leu274Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS097733"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1451,
          "referenceAllele": "T",
          "start": 1450
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000713",
      "geneNCBI_id": 410,
      "geneSymbol": "ARSA",
      "hgvs": [
        "XM_011530691.1:c.1079T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011528993.1:p.Leu360Pro",
        "hgvsWellDefined": "XP_011528993.1:p.Leu360Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS097734"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828065370",
      "coordinates": [
        {
          "allele": "C",
          "end": 1038,
          "referenceAllele": "T",
          "start": 1037
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000713",
      "geneNCBI_id": 410,
      "geneSymbol": "ARSA",
      "hgvs": [
        "NM_001362782.1:c.821T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001349711.1:p.Leu274Pro",
        "hgvsWellDefined": "NP_001349711.1:p.Leu274Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS523060"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1412,
          "referenceAllele": "T",
          "start": 1411
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000713",
      "geneNCBI_id": 410,
      "geneSymbol": "ARSA",
      "hgvs": [
        "XM_011530691.3:c.1079T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011528993.1:p.Leu360Pro",
        "hgvsWellDefined": "XP_011528993.1:p.Leu360Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS550069"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1292,
          "referenceAllele": "T",
          "start": 1291
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000713",
      "geneNCBI_id": 410,
      "geneSymbol": "ARSA",
      "hgvs": [
        "XM_017028800.1:c.1079T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_016884289.1:p.Leu360Pro",
        "hgvsWellDefined": "XP_016884289.1:p.Leu360Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS578460"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1292,
          "referenceAllele": "T",
          "start": 1291
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000713",
      "geneNCBI_id": 410,
      "geneSymbol": "ARSA",
      "hgvs": [
        "XM_024452241.1:c.1079T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_024308009.1:p.Leu360Pro",
        "hgvsWellDefined": "XP_024308009.1:p.Leu360Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS585738"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825189026",
      "coordinates": [
        {
          "allele": "C",
          "end": 1452,
          "referenceAllele": "T",
          "start": 1451
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000713",
      "geneNCBI_id": 410,
      "geneSymbol": "ARSA",
      "hgvs": [
        "NM_000487.6:c.1079T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_000478.3:p.Leu360Pro",
        "hgvsWellDefined": "NP_000478.3:p.Leu360Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS662459",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000216124.10:c.1079T>C"
          },
          "RefSeq": {
            "hgvs": "NM_000487.6:c.1079T>C"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000216124.5:p.Leu360Pro"
          },
          "RefSeq": {
            "hgvs": "NP_000478.3:p.Leu360Pro"
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825518502",
      "coordinates": [
        {
          "allele": "C",
          "end": 1347,
          "referenceAllele": "T",
          "start": 1346
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000713",
      "geneNCBI_id": 410,
      "geneSymbol": "ARSA",
      "hgvs": [
        "NM_001085425.3:c.1079T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001078894.2:p.Leu360Pro",
        "hgvsWellDefined": "NP_001078894.2:p.Leu360Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS676375"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825519210",
      "coordinates": [
        {
          "allele": "C",
          "end": 1299,
          "referenceAllele": "T",
          "start": 1298
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000713",
      "geneNCBI_id": 410,
      "geneSymbol": "ARSA",
      "hgvs": [
        "NM_001085426.3:c.1079T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001078895.2:p.Leu360Pro",
        "hgvsWellDefined": "NP_001078895.2:p.Leu360Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS676376"
    },
    {
      "@id": "http://reg.genome.network/allele/PA1139679285",
      "coordinates": [
        {
          "allele": "C",
          "end": 1254,
          "referenceAllele": "T",
          "start": 1253
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000713",
      "geneNCBI_id": 410,
      "geneSymbol": "ARSA",
      "hgvs": [
        "NM_001085427.3:c.1079T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001078896.2:p.Leu360Pro",
        "hgvsWellDefined": "NP_001078896.2:p.Leu360Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS676377"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825520144",
      "coordinates": [
        {
          "allele": "C",
          "end": 1062,
          "referenceAllele": "T",
          "start": 1061
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000713",
      "geneNCBI_id": 410,
      "geneSymbol": "ARSA",
      "hgvs": [
        "NM_001085428.3:c.821T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001078897.1:p.Leu274Pro",
        "hgvsWellDefined": "NP_001078897.1:p.Leu274Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS676378"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828065370",
      "coordinates": [
        {
          "allele": "C",
          "end": 1017,
          "referenceAllele": "T",
          "start": 1016
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000713",
      "geneNCBI_id": 410,
      "geneSymbol": "ARSA",
      "hgvs": [
        "NM_001362782.2:c.821T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001349711.1:p.Leu274Pro",
        "hgvsWellDefined": "NP_001349711.1:p.Leu274Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS690538"
    }
  ],
  "type": "nucleotide"
}