{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA10324719",
  "communityStandardTitle": [
    "NM_000487.6(ARSA):c.1493G>T (p.Arg498Leu)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=849461[alleleid]",
        "alleleId": 849461,
        "preferredName": "NM_000487.6(ARSA):c.1493G>T (p.Arg498Leu)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/855587",
        "RCV": [
          "RCV001060881",
          "RCV001759817"
        ],
        "variationId": 855587
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/22-51063610-C-A",
        "id": "22-51063610-C-A",
        "variant": "22:51063610 C / A"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr22:g.51063610C>A?assembly=hg19",
        "id": "chr22:g.51063610C>A"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr22:g.50625182C>A?assembly=hg38",
        "id": "chr22:g.50625182C>A"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/6151428",
        "rs": 6151428
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/22-51063610-C-A?dataset=gnomad_r2_1",
        "id": "22-51063610-C-A",
        "variant": "22:51063610 C / A"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/22-50625182-C-A?dataset=gnomad_r3",
        "id": "22-50625182-C-A",
        "variant": "22:50625182 C / A"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/22-50625182-C-A?dataset=gnomad_r4",
        "id": "22-50625182-C-A",
        "variant": "22:50625182 C / A"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "22",
      "coordinates": [
        {
          "allele": "A",
          "end": 50625182,
          "referenceAllele": "C",
          "start": 50625181
        }
      ],
      "hgvs": [
        "NC_000022.11:g.50625182C>A",
        "CM000684.2:g.50625182C>A"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000070"
    },
    {
      "chromosome": "22",
      "coordinates": [
        {
          "allele": "A",
          "end": 51063610,
          "referenceAllele": "C",
          "start": 51063609
        }
      ],
      "hgvs": [
        "NC_000022.10:g.51063610C>A",
        "CM000684.1:g.51063610C>A"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000046"
    },
    {
      "chromosome": "22",
      "coordinates": [
        {
          "allele": "A",
          "end": 49410476,
          "referenceAllele": "C",
          "start": 49410475
        }
      ],
      "hgvs": [
        "NC_000022.9:g.49410476C>A"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000022"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 7998,
          "referenceAllele": "G",
          "start": 7997
        }
      ],
      "hgvs": [
        "NG_009260.2:g.7998G>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001525"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1866,
          "referenceAllele": "G",
          "start": 1865
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000713",
      "geneNCBI_id": 410,
      "geneSymbol": "ARSA",
      "hgvs": [
        "ENST00000216124.10:c.1493G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000216124.5:p.Arg498Leu",
        "hgvsWellDefined": "ENSP00000216124.5:p.Arg498Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS740272",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000216124.10:c.1493G>T"
          },
          "RefSeq": {
            "hgvs": "NM_000487.6:c.1493G>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000216124.5:p.Arg498Leu"
          },
          "RefSeq": {
            "hgvs": "NP_000478.3:p.Arg498Leu"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1886,
          "referenceAllele": "G",
          "start": 1885
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000713",
      "geneNCBI_id": 410,
      "geneSymbol": "ARSA",
      "hgvs": [
        "ENST00000216124.9:c.1493G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000216124.5:p.Arg498Leu",
        "hgvsWellDefined": "ENSP00000216124.5:p.Arg498Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247952"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1731,
          "referenceAllele": "G",
          "start": 1730
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000713",
      "geneNCBI_id": 410,
      "geneSymbol": "ARSA",
      "hgvs": [
        "ENST00000356098.9:c.1493G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000348406.5:p.Arg498Leu",
        "hgvsWellDefined": "ENSP00000348406.5:p.Arg498Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS263645"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1675,
          "referenceAllele": "G",
          "start": 1674
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000713",
      "geneNCBI_id": 410,
      "geneSymbol": "ARSA",
      "hgvs": [
        "ENST00000395619.3:c.1493G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000378981.3:p.Arg498Leu",
        "hgvsWellDefined": "ENSP00000378981.3:p.Arg498Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS276795"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1764,
          "referenceAllele": "G",
          "start": 1763
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000713",
      "geneNCBI_id": 410,
      "geneSymbol": "ARSA",
      "hgvs": [
        "ENST00000395621.7:c.1493G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000378983.3:p.Arg498Leu",
        "hgvsWellDefined": "ENSP00000378983.3:p.Arg498Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS276797"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1497,
          "referenceAllele": "G",
          "start": 1496
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000713",
      "geneNCBI_id": 410,
      "geneSymbol": "ARSA",
      "hgvs": [
        "ENST00000453344.6:c.1235G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000412542.2:p.Arg412Leu",
        "hgvsWellDefined": "ENSP00000412542.2:p.Arg412Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS302061"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 180,
          "endIntronDirection": "+",
          "endIntronOffset": 181,
          "referenceAllele": "G",
          "start": 180,
          "startIntronDirection": "+",
          "startIntronOffset": 180
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000713",
      "geneNCBI_id": 410,
      "geneSymbol": "ARSA",
      "hgvs": [
        "ENST00000608497.1:c.180+181G>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS400049"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825189292",
      "coordinates": [
        {
          "allele": "T",
          "end": 1887,
          "referenceAllele": "G",
          "start": 1886
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000713",
      "geneNCBI_id": 410,
      "geneSymbol": "ARSA",
      "hgvs": [
        "NM_000487.5:c.1493G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_000478.3:p.Arg498Leu",
        "hgvsWellDefined": "NP_000478.3:p.Arg498Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006541"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825518677",
      "coordinates": [
        {
          "allele": "T",
          "end": 1782,
          "referenceAllele": "G",
          "start": 1781
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000713",
      "geneNCBI_id": 410,
      "geneSymbol": "ARSA",
      "hgvs": [
        "NM_001085425.2:c.1493G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001078894.2:p.Arg498Leu",
        "hgvsWellDefined": "NP_001078894.2:p.Arg498Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS010459"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825519384",
      "coordinates": [
        {
          "allele": "T",
          "end": 1734,
          "referenceAllele": "G",
          "start": 1733
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000713",
      "geneNCBI_id": 410,
      "geneSymbol": "ARSA",
      "hgvs": [
        "NM_001085426.2:c.1493G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001078895.2:p.Arg498Leu",
        "hgvsWellDefined": "NP_001078895.2:p.Arg498Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS010460"
    },
    {
      "@id": "http://reg.genome.network/allele/PA1139679426",
      "coordinates": [
        {
          "allele": "T",
          "end": 1689,
          "referenceAllele": "G",
          "start": 1688
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000713",
      "geneNCBI_id": 410,
      "geneSymbol": "ARSA",
      "hgvs": [
        "NM_001085427.2:c.1493G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001078896.2:p.Arg498Leu",
        "hgvsWellDefined": "NP_001078896.2:p.Arg498Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS010461"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825520319",
      "coordinates": [
        {
          "allele": "T",
          "end": 1497,
          "referenceAllele": "G",
          "start": 1496
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000713",
      "geneNCBI_id": 410,
      "geneSymbol": "ARSA",
      "hgvs": [
        "NM_001085428.2:c.1235G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001078897.1:p.Arg412Leu",
        "hgvsWellDefined": "NP_001078897.1:p.Arg412Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS010462"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1451,
          "referenceAllele": "G",
          "start": 1450
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000713",
      "geneNCBI_id": 410,
      "geneSymbol": "ARSA",
      "hgvs": [
        "XM_011530690.1:c.1235G>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011528992.1:p.Arg412Leu",
        "hgvsWellDefined": "XP_011528992.1:p.Arg412Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS097733"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1762,
          "referenceAllele": "G",
          "start": 1761
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000713",
      "geneNCBI_id": 410,
      "geneSymbol": "ARSA",
      "hgvs": [
        "XM_011530691.1:c.*226G>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011528993.1:n.*226G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS097734"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828065546",
      "coordinates": [
        {
          "allele": "T",
          "end": 1452,
          "referenceAllele": "G",
          "start": 1451
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000713",
      "geneNCBI_id": 410,
      "geneSymbol": "ARSA",
      "hgvs": [
        "NM_001362782.1:c.1235G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001349711.1:p.Arg412Leu",
        "hgvsWellDefined": "NP_001349711.1:p.Arg412Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS523060"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1723,
          "referenceAllele": "G",
          "start": 1722
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000713",
      "geneNCBI_id": 410,
      "geneSymbol": "ARSA",
      "hgvs": [
        "XM_011530691.3:c.*226G>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011528993.1:n.*226G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS550069"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1820,
          "referenceAllele": "G",
          "start": 1819
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000713",
      "geneNCBI_id": 410,
      "geneSymbol": "ARSA",
      "hgvs": [
        "XM_017028800.1:c.1607G>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_016884289.1:p.Arg536Leu",
        "hgvsWellDefined": "XP_016884289.1:p.Arg536Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS578460"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1603,
          "referenceAllele": "G",
          "start": 1602
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000713",
      "geneNCBI_id": 410,
      "geneSymbol": "ARSA",
      "hgvs": [
        "XM_024452241.1:c.*226G>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_024308009.1:n.*226G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS585738"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825189292",
      "coordinates": [
        {
          "allele": "T",
          "end": 1866,
          "referenceAllele": "G",
          "start": 1865
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000713",
      "geneNCBI_id": 410,
      "geneSymbol": "ARSA",
      "hgvs": [
        "NM_000487.6:c.1493G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_000478.3:p.Arg498Leu",
        "hgvsWellDefined": "NP_000478.3:p.Arg498Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS662459",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000216124.10:c.1493G>T"
          },
          "RefSeq": {
            "hgvs": "NM_000487.6:c.1493G>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000216124.5:p.Arg498Leu"
          },
          "RefSeq": {
            "hgvs": "NP_000478.3:p.Arg498Leu"
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825518677",
      "coordinates": [
        {
          "allele": "T",
          "end": 1761,
          "referenceAllele": "G",
          "start": 1760
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000713",
      "geneNCBI_id": 410,
      "geneSymbol": "ARSA",
      "hgvs": [
        "NM_001085425.3:c.1493G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001078894.2:p.Arg498Leu",
        "hgvsWellDefined": "NP_001078894.2:p.Arg498Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS676375"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825519384",
      "coordinates": [
        {
          "allele": "T",
          "end": 1713,
          "referenceAllele": "G",
          "start": 1712
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000713",
      "geneNCBI_id": 410,
      "geneSymbol": "ARSA",
      "hgvs": [
        "NM_001085426.3:c.1493G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001078895.2:p.Arg498Leu",
        "hgvsWellDefined": "NP_001078895.2:p.Arg498Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS676376"
    },
    {
      "@id": "http://reg.genome.network/allele/PA1139679426",
      "coordinates": [
        {
          "allele": "T",
          "end": 1668,
          "referenceAllele": "G",
          "start": 1667
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000713",
      "geneNCBI_id": 410,
      "geneSymbol": "ARSA",
      "hgvs": [
        "NM_001085427.3:c.1493G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001078896.2:p.Arg498Leu",
        "hgvsWellDefined": "NP_001078896.2:p.Arg498Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS676377"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825520319",
      "coordinates": [
        {
          "allele": "T",
          "end": 1476,
          "referenceAllele": "G",
          "start": 1475
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000713",
      "geneNCBI_id": 410,
      "geneSymbol": "ARSA",
      "hgvs": [
        "NM_001085428.3:c.1235G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001078897.1:p.Arg412Leu",
        "hgvsWellDefined": "NP_001078897.1:p.Arg412Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS676378"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828065546",
      "coordinates": [
        {
          "allele": "T",
          "end": 1431,
          "referenceAllele": "G",
          "start": 1430
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000713",
      "geneNCBI_id": 410,
      "geneSymbol": "ARSA",
      "hgvs": [
        "NM_001362782.2:c.1235G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001349711.1:p.Arg412Leu",
        "hgvsWellDefined": "NP_001349711.1:p.Arg412Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS690538"
    }
  ],
  "type": "nucleotide"
}