{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA115956",
  "communityStandardTitle": [
    "NM_000487.6(ARSA):c.1283C>T (p.Pro428Leu)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=18091[alleleid]",
        "alleleId": 18091,
        "preferredName": "NM_000487.6(ARSA):c.1283C>T (p.Pro428Leu)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/3052",
        "RCV": [
          "RCV000003197",
          "RCV000003195",
          "RCV000003196",
          "RCV000020314",
          "RCV000392246",
          "RCV001251909"
        ],
        "variationId": 3052
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/22-51063820-G-A",
        "id": "22-51063820-G-A",
        "variant": "22:51063820 G / A"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr22:g.51063820G>A?assembly=hg19",
        "id": "chr22:g.51063820G>A"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr22:g.50625392G>A?assembly=hg38",
        "id": "chr22:g.50625392G>A"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/28940893",
        "rs": 28940893
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/22-51063820-G-A?dataset=gnomad_r2_1",
        "id": "22-51063820-G-A",
        "variant": "22:51063820 G / A"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/22-50625392-G-A?dataset=gnomad_r3",
        "id": "22-50625392-G-A",
        "variant": "22:50625392 G / A"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/22-50625392-G-A?dataset=gnomad_r4",
        "id": "22-50625392-G-A",
        "variant": "22:50625392 G / A"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "22",
      "coordinates": [
        {
          "allele": "A",
          "end": 50625392,
          "referenceAllele": "G",
          "start": 50625391
        }
      ],
      "hgvs": [
        "NC_000022.11:g.50625392G>A",
        "CM000684.2:g.50625392G>A"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000070"
    },
    {
      "chromosome": "22",
      "coordinates": [
        {
          "allele": "A",
          "end": 51063820,
          "referenceAllele": "G",
          "start": 51063819
        }
      ],
      "hgvs": [
        "NC_000022.10:g.51063820G>A",
        "CM000684.1:g.51063820G>A"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000046"
    },
    {
      "chromosome": "22",
      "coordinates": [
        {
          "allele": "A",
          "end": 49410686,
          "referenceAllele": "G",
          "start": 49410685
        }
      ],
      "hgvs": [
        "NC_000022.9:g.49410686G>A"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000022"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 7788,
          "referenceAllele": "C",
          "start": 7787
        }
      ],
      "hgvs": [
        "NG_009260.2:g.7788C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001525"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1656,
          "referenceAllele": "C",
          "start": 1655
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000713",
      "geneNCBI_id": 410,
      "geneSymbol": "ARSA",
      "hgvs": [
        "ENST00000216124.10:c.1283C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000216124.5:p.Pro428Leu",
        "hgvsWellDefined": "ENSP00000216124.5:p.Pro428Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS740272",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000216124.10:c.1283C>T"
          },
          "RefSeq": {
            "hgvs": "NM_000487.6:c.1283C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000216124.5:p.Pro428Leu"
          },
          "RefSeq": {
            "hgvs": "NP_000478.3:p.Pro428Leu"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1676,
          "referenceAllele": "C",
          "start": 1675
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000713",
      "geneNCBI_id": 410,
      "geneSymbol": "ARSA",
      "hgvs": [
        "ENST00000216124.9:c.1283C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000216124.5:p.Pro428Leu",
        "hgvsWellDefined": "ENSP00000216124.5:p.Pro428Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247952"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1521,
          "referenceAllele": "C",
          "start": 1520
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000713",
      "geneNCBI_id": 410,
      "geneSymbol": "ARSA",
      "hgvs": [
        "ENST00000356098.9:c.1283C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000348406.5:p.Pro428Leu",
        "hgvsWellDefined": "ENSP00000348406.5:p.Pro428Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS263645"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1465,
          "referenceAllele": "C",
          "start": 1464
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000713",
      "geneNCBI_id": 410,
      "geneSymbol": "ARSA",
      "hgvs": [
        "ENST00000395619.3:c.1283C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000378981.3:p.Pro428Leu",
        "hgvsWellDefined": "ENSP00000378981.3:p.Pro428Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS276795"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1554,
          "referenceAllele": "C",
          "start": 1553
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000713",
      "geneNCBI_id": 410,
      "geneSymbol": "ARSA",
      "hgvs": [
        "ENST00000395621.7:c.1283C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000378983.3:p.Pro428Leu",
        "hgvsWellDefined": "ENSP00000378983.3:p.Pro428Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS276797"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1287,
          "referenceAllele": "C",
          "start": 1286
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000713",
      "geneNCBI_id": 410,
      "geneSymbol": "ARSA",
      "hgvs": [
        "ENST00000453344.6:c.1025C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000412542.2:p.Pro342Leu",
        "hgvsWellDefined": "ENSP00000412542.2:p.Pro342Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS302061"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 151,
          "referenceAllele": "C",
          "start": 150
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000713",
      "geneNCBI_id": 410,
      "geneSymbol": "ARSA",
      "hgvs": [
        "ENST00000608497.1:c.151C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS400049"
    },
    {
      "@id": "http://reg.genome.network/allele/PA115957",
      "coordinates": [
        {
          "allele": "T",
          "end": 1677,
          "referenceAllele": "C",
          "start": 1676
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000713",
      "geneNCBI_id": 410,
      "geneSymbol": "ARSA",
      "hgvs": [
        "NM_000487.5:c.1283C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_000478.3:p.Pro428Leu",
        "hgvsWellDefined": "NP_000478.3:p.Pro428Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006541"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825518579",
      "coordinates": [
        {
          "allele": "T",
          "end": 1572,
          "referenceAllele": "C",
          "start": 1571
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000713",
      "geneNCBI_id": 410,
      "geneSymbol": "ARSA",
      "hgvs": [
        "NM_001085425.2:c.1283C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001078894.2:p.Pro428Leu",
        "hgvsWellDefined": "NP_001078894.2:p.Pro428Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS010459"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825519286",
      "coordinates": [
        {
          "allele": "T",
          "end": 1524,
          "referenceAllele": "C",
          "start": 1523
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000713",
      "geneNCBI_id": 410,
      "geneSymbol": "ARSA",
      "hgvs": [
        "NM_001085426.2:c.1283C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001078895.2:p.Pro428Leu",
        "hgvsWellDefined": "NP_001078895.2:p.Pro428Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS010460"
    },
    {
      "@id": "http://reg.genome.network/allele/PA915970851",
      "coordinates": [
        {
          "allele": "T",
          "end": 1479,
          "referenceAllele": "C",
          "start": 1478
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000713",
      "geneNCBI_id": 410,
      "geneSymbol": "ARSA",
      "hgvs": [
        "NM_001085427.2:c.1283C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001078896.2:p.Pro428Leu",
        "hgvsWellDefined": "NP_001078896.2:p.Pro428Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS010461"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825520222",
      "coordinates": [
        {
          "allele": "T",
          "end": 1287,
          "referenceAllele": "C",
          "start": 1286
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000713",
      "geneNCBI_id": 410,
      "geneSymbol": "ARSA",
      "hgvs": [
        "NM_001085428.2:c.1025C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001078897.1:p.Pro342Leu",
        "hgvsWellDefined": "NP_001078897.1:p.Pro342Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS010462"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1241,
          "referenceAllele": "C",
          "start": 1240
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000713",
      "geneNCBI_id": 410,
      "geneSymbol": "ARSA",
      "hgvs": [
        "XM_011530690.1:c.1025C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011528992.1:p.Pro342Leu",
        "hgvsWellDefined": "XP_011528992.1:p.Pro342Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS097733"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1552,
          "referenceAllele": "C",
          "start": 1551
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000713",
      "geneNCBI_id": 410,
      "geneSymbol": "ARSA",
      "hgvs": [
        "XM_011530691.1:c.*16C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011528993.1:n.*16C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS097734"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828065447",
      "coordinates": [
        {
          "allele": "T",
          "end": 1242,
          "referenceAllele": "C",
          "start": 1241
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000713",
      "geneNCBI_id": 410,
      "geneSymbol": "ARSA",
      "hgvs": [
        "NM_001362782.1:c.1025C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001349711.1:p.Pro342Leu",
        "hgvsWellDefined": "NP_001349711.1:p.Pro342Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS523060"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1513,
          "referenceAllele": "C",
          "start": 1512
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000713",
      "geneNCBI_id": 410,
      "geneSymbol": "ARSA",
      "hgvs": [
        "XM_011530691.3:c.*16C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011528993.1:n.*16C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS550069"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1610,
          "referenceAllele": "C",
          "start": 1609
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000713",
      "geneNCBI_id": 410,
      "geneSymbol": "ARSA",
      "hgvs": [
        "XM_017028800.1:c.1397C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_016884289.1:p.Pro466Leu",
        "hgvsWellDefined": "XP_016884289.1:p.Pro466Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS578460"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1393,
          "referenceAllele": "C",
          "start": 1392
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000713",
      "geneNCBI_id": 410,
      "geneSymbol": "ARSA",
      "hgvs": [
        "XM_024452241.1:c.*16C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_024308009.1:n.*16C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS585738"
    },
    {
      "@id": "http://reg.genome.network/allele/PA115957",
      "coordinates": [
        {
          "allele": "T",
          "end": 1656,
          "referenceAllele": "C",
          "start": 1655
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000713",
      "geneNCBI_id": 410,
      "geneSymbol": "ARSA",
      "hgvs": [
        "NM_000487.6:c.1283C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_000478.3:p.Pro428Leu",
        "hgvsWellDefined": "NP_000478.3:p.Pro428Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS662459",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000216124.10:c.1283C>T"
          },
          "RefSeq": {
            "hgvs": "NM_000487.6:c.1283C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000216124.5:p.Pro428Leu"
          },
          "RefSeq": {
            "hgvs": "NP_000478.3:p.Pro428Leu"
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825518579",
      "coordinates": [
        {
          "allele": "T",
          "end": 1551,
          "referenceAllele": "C",
          "start": 1550
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000713",
      "geneNCBI_id": 410,
      "geneSymbol": "ARSA",
      "hgvs": [
        "NM_001085425.3:c.1283C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001078894.2:p.Pro428Leu",
        "hgvsWellDefined": "NP_001078894.2:p.Pro428Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS676375"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825519286",
      "coordinates": [
        {
          "allele": "T",
          "end": 1503,
          "referenceAllele": "C",
          "start": 1502
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000713",
      "geneNCBI_id": 410,
      "geneSymbol": "ARSA",
      "hgvs": [
        "NM_001085426.3:c.1283C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001078895.2:p.Pro428Leu",
        "hgvsWellDefined": "NP_001078895.2:p.Pro428Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS676376"
    },
    {
      "@id": "http://reg.genome.network/allele/PA915970851",
      "coordinates": [
        {
          "allele": "T",
          "end": 1458,
          "referenceAllele": "C",
          "start": 1457
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000713",
      "geneNCBI_id": 410,
      "geneSymbol": "ARSA",
      "hgvs": [
        "NM_001085427.3:c.1283C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001078896.2:p.Pro428Leu",
        "hgvsWellDefined": "NP_001078896.2:p.Pro428Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS676377"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825520222",
      "coordinates": [
        {
          "allele": "T",
          "end": 1266,
          "referenceAllele": "C",
          "start": 1265
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000713",
      "geneNCBI_id": 410,
      "geneSymbol": "ARSA",
      "hgvs": [
        "NM_001085428.3:c.1025C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001078897.1:p.Pro342Leu",
        "hgvsWellDefined": "NP_001078897.1:p.Pro342Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS676378"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828065447",
      "coordinates": [
        {
          "allele": "T",
          "end": 1221,
          "referenceAllele": "C",
          "start": 1220
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000713",
      "geneNCBI_id": 410,
      "geneSymbol": "ARSA",
      "hgvs": [
        "NM_001362782.2:c.1025C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001349711.1:p.Pro342Leu",
        "hgvsWellDefined": "NP_001349711.1:p.Pro342Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS690538"
    }
  ],
  "type": "nucleotide"
}