{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA1026680030",
  "communityStandardTitle": [
    "NM_000487.6(ARSA):c.*130C>T"
  ],
  "externalRecords": {
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/886057655",
        "rs": 886057655
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/22-50625015-G-A?dataset=gnomad_r3",
        "id": "22-50625015-G-A",
        "variant": "22:50625015 G / A"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/22-50625015-G-A?dataset=gnomad_r4",
        "id": "22-50625015-G-A",
        "variant": "22:50625015 G / A"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "22",
      "coordinates": [
        {
          "allele": "A",
          "end": 50625015,
          "referenceAllele": "G",
          "start": 50625014
        }
      ],
      "hgvs": [
        "NC_000022.11:g.50625015G>A",
        "CM000684.2:g.50625015G>A"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000070"
    },
    {
      "chromosome": "22",
      "coordinates": [
        {
          "allele": "A",
          "end": 51063443,
          "referenceAllele": "G",
          "start": 51063442
        }
      ],
      "hgvs": [
        "NC_000022.10:g.51063443G>A",
        "CM000684.1:g.51063443G>A"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000046"
    },
    {
      "chromosome": "22",
      "coordinates": [
        {
          "allele": "A",
          "end": 49410309,
          "referenceAllele": "G",
          "start": 49410308
        }
      ],
      "hgvs": [
        "NC_000022.9:g.49410309G>A"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000022"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 8165,
          "referenceAllele": "C",
          "start": 8164
        }
      ],
      "hgvs": [
        "NG_009260.2:g.8165C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001525"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2033,
          "referenceAllele": "C",
          "start": 2032
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000713",
      "geneNCBI_id": 410,
      "geneSymbol": "ARSA",
      "hgvs": [
        "ENST00000216124.10:c.*130C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000216124.5:n.*130C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS740272",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000216124.10:c.*130C>T"
          },
          "RefSeq": {
            "hgvs": "NM_000487.6:c.*130C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000216124.5:n.*130C>T"
          },
          "RefSeq": {
            "hgvs": "NP_000478.3:n.*130C>T"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 180,
          "endIntronDirection": "+",
          "endIntronOffset": 348,
          "referenceAllele": "C",
          "start": 180,
          "startIntronDirection": "+",
          "startIntronOffset": 347
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000713",
      "geneNCBI_id": 410,
      "geneSymbol": "ARSA",
      "hgvs": [
        "ENST00000608497.1:c.180+348C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS400049"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2054,
          "referenceAllele": "C",
          "start": 2053
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000713",
      "geneNCBI_id": 410,
      "geneSymbol": "ARSA",
      "hgvs": [
        "NM_000487.5:c.*130C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_000478.3:n.*130C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006541"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1949,
          "referenceAllele": "C",
          "start": 1948
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000713",
      "geneNCBI_id": 410,
      "geneSymbol": "ARSA",
      "hgvs": [
        "NM_001085425.2:c.*130C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001078894.2:n.*130C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS010459"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1901,
          "referenceAllele": "C",
          "start": 1900
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000713",
      "geneNCBI_id": 410,
      "geneSymbol": "ARSA",
      "hgvs": [
        "NM_001085426.2:c.*130C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001078895.2:n.*130C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS010460"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1856,
          "referenceAllele": "C",
          "start": 1855
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000713",
      "geneNCBI_id": 410,
      "geneSymbol": "ARSA",
      "hgvs": [
        "NM_001085427.2:c.*130C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001078896.2:n.*130C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS010461"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1664,
          "referenceAllele": "C",
          "start": 1663
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000713",
      "geneNCBI_id": 410,
      "geneSymbol": "ARSA",
      "hgvs": [
        "NM_001085428.2:c.*130C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001078897.1:n.*130C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS010462"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1619,
          "referenceAllele": "C",
          "start": 1618
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000713",
      "geneNCBI_id": 410,
      "geneSymbol": "ARSA",
      "hgvs": [
        "NM_001362782.1:c.*130C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001349711.1:n.*130C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS523060"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2033,
          "referenceAllele": "C",
          "start": 2032
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000713",
      "geneNCBI_id": 410,
      "geneSymbol": "ARSA",
      "hgvs": [
        "NM_000487.6:c.*130C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_000478.3:n.*130C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS662459",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000216124.10:c.*130C>T"
          },
          "RefSeq": {
            "hgvs": "NM_000487.6:c.*130C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000216124.5:n.*130C>T"
          },
          "RefSeq": {
            "hgvs": "NP_000478.3:n.*130C>T"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1928,
          "referenceAllele": "C",
          "start": 1927
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000713",
      "geneNCBI_id": 410,
      "geneSymbol": "ARSA",
      "hgvs": [
        "NM_001085425.3:c.*130C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001078894.2:n.*130C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS676375"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1880,
          "referenceAllele": "C",
          "start": 1879
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000713",
      "geneNCBI_id": 410,
      "geneSymbol": "ARSA",
      "hgvs": [
        "NM_001085426.3:c.*130C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001078895.2:n.*130C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS676376"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1835,
          "referenceAllele": "C",
          "start": 1834
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000713",
      "geneNCBI_id": 410,
      "geneSymbol": "ARSA",
      "hgvs": [
        "NM_001085427.3:c.*130C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001078896.2:n.*130C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS676377"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1643,
          "referenceAllele": "C",
          "start": 1642
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000713",
      "geneNCBI_id": 410,
      "geneSymbol": "ARSA",
      "hgvs": [
        "NM_001085428.3:c.*130C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001078897.1:n.*130C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS676378"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1598,
          "referenceAllele": "C",
          "start": 1597
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000713",
      "geneNCBI_id": 410,
      "geneSymbol": "ARSA",
      "hgvs": [
        "NM_001362782.2:c.*130C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001349711.1:n.*130C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS690538"
    }
  ],
  "type": "nucleotide"
}