{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA754067095",
  "communityStandardTitle": [
    "NM_000487.6(ARSA):c.*120T>C"
  ],
  "externalRecords": {
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr22:g.51063453A>G?assembly=hg19",
        "id": "chr22:g.51063453A>G"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr22:g.50625025A>G?assembly=hg38",
        "id": "chr22:g.50625025A>G"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/1433107855",
        "rs": 1433107855
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/22-50625025-A-G?dataset=gnomad_r4",
        "id": "22-50625025-A-G",
        "variant": "22:50625025 A / G"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "22",
      "coordinates": [
        {
          "allele": "G",
          "end": 50625025,
          "referenceAllele": "A",
          "start": 50625024
        }
      ],
      "hgvs": [
        "NC_000022.11:g.50625025A>G",
        "CM000684.2:g.50625025A>G"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000070"
    },
    {
      "chromosome": "22",
      "coordinates": [
        {
          "allele": "G",
          "end": 51063453,
          "referenceAllele": "A",
          "start": 51063452
        }
      ],
      "hgvs": [
        "NC_000022.10:g.51063453A>G",
        "CM000684.1:g.51063453A>G"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000046"
    },
    {
      "chromosome": "22",
      "coordinates": [
        {
          "allele": "G",
          "end": 49410319,
          "referenceAllele": "A",
          "start": 49410318
        }
      ],
      "hgvs": [
        "NC_000022.9:g.49410319A>G"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000022"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 8155,
          "referenceAllele": "T",
          "start": 8154
        }
      ],
      "hgvs": [
        "NG_009260.2:g.8155T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001525"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2023,
          "referenceAllele": "T",
          "start": 2022
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000713",
      "geneNCBI_id": 410,
      "geneSymbol": "ARSA",
      "hgvs": [
        "ENST00000216124.10:c.*120T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000216124.5:n.*120T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS740272",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000216124.10:c.*120T>C"
          },
          "RefSeq": {
            "hgvs": "NM_000487.6:c.*120T>C"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000216124.5:n.*120T>C"
          },
          "RefSeq": {
            "hgvs": "NP_000478.3:n.*120T>C"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2043,
          "referenceAllele": "T",
          "start": 2042
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000713",
      "geneNCBI_id": 410,
      "geneSymbol": "ARSA",
      "hgvs": [
        "ENST00000216124.9:c.*120T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000216124.5:n.*120T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247952"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1888,
          "referenceAllele": "T",
          "start": 1887
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000713",
      "geneNCBI_id": 410,
      "geneSymbol": "ARSA",
      "hgvs": [
        "ENST00000356098.9:c.*120T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000348406.5:n.*120T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS263645"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 180,
          "endIntronDirection": "+",
          "endIntronOffset": 338,
          "referenceAllele": "T",
          "start": 180,
          "startIntronDirection": "+",
          "startIntronOffset": 337
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000713",
      "geneNCBI_id": 410,
      "geneSymbol": "ARSA",
      "hgvs": [
        "ENST00000608497.1:c.180+338T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS400049"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2044,
          "referenceAllele": "T",
          "start": 2043
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000713",
      "geneNCBI_id": 410,
      "geneSymbol": "ARSA",
      "hgvs": [
        "NM_000487.5:c.*120T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_000478.3:n.*120T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006541"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1939,
          "referenceAllele": "T",
          "start": 1938
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000713",
      "geneNCBI_id": 410,
      "geneSymbol": "ARSA",
      "hgvs": [
        "NM_001085425.2:c.*120T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001078894.2:n.*120T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS010459"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1891,
          "referenceAllele": "T",
          "start": 1890
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000713",
      "geneNCBI_id": 410,
      "geneSymbol": "ARSA",
      "hgvs": [
        "NM_001085426.2:c.*120T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001078895.2:n.*120T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS010460"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1846,
          "referenceAllele": "T",
          "start": 1845
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000713",
      "geneNCBI_id": 410,
      "geneSymbol": "ARSA",
      "hgvs": [
        "NM_001085427.2:c.*120T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001078896.2:n.*120T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS010461"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1654,
          "referenceAllele": "T",
          "start": 1653
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000713",
      "geneNCBI_id": 410,
      "geneSymbol": "ARSA",
      "hgvs": [
        "NM_001085428.2:c.*120T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001078897.1:n.*120T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS010462"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1608,
          "referenceAllele": "T",
          "start": 1607
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000713",
      "geneNCBI_id": 410,
      "geneSymbol": "ARSA",
      "hgvs": [
        "XM_011530690.1:c.*120T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011528992.1:n.*120T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS097733"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1919,
          "referenceAllele": "T",
          "start": 1918
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000713",
      "geneNCBI_id": 410,
      "geneSymbol": "ARSA",
      "hgvs": [
        "XM_011530691.1:c.*383T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011528993.1:n.*383T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS097734"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1609,
          "referenceAllele": "T",
          "start": 1608
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000713",
      "geneNCBI_id": 410,
      "geneSymbol": "ARSA",
      "hgvs": [
        "NM_001362782.1:c.*120T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001349711.1:n.*120T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS523060"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1880,
          "referenceAllele": "T",
          "start": 1879
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000713",
      "geneNCBI_id": 410,
      "geneSymbol": "ARSA",
      "hgvs": [
        "XM_011530691.3:c.*383T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011528993.1:n.*383T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS550069"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1977,
          "referenceAllele": "T",
          "start": 1976
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000713",
      "geneNCBI_id": 410,
      "geneSymbol": "ARSA",
      "hgvs": [
        "XM_017028800.1:c.*120T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_016884289.1:n.*120T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS578460"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1760,
          "referenceAllele": "T",
          "start": 1759
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000713",
      "geneNCBI_id": 410,
      "geneSymbol": "ARSA",
      "hgvs": [
        "XM_024452241.1:c.*383T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_024308009.1:n.*383T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS585738"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2023,
          "referenceAllele": "T",
          "start": 2022
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000713",
      "geneNCBI_id": 410,
      "geneSymbol": "ARSA",
      "hgvs": [
        "NM_000487.6:c.*120T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_000478.3:n.*120T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS662459",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000216124.10:c.*120T>C"
          },
          "RefSeq": {
            "hgvs": "NM_000487.6:c.*120T>C"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000216124.5:n.*120T>C"
          },
          "RefSeq": {
            "hgvs": "NP_000478.3:n.*120T>C"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1918,
          "referenceAllele": "T",
          "start": 1917
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000713",
      "geneNCBI_id": 410,
      "geneSymbol": "ARSA",
      "hgvs": [
        "NM_001085425.3:c.*120T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001078894.2:n.*120T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS676375"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1870,
          "referenceAllele": "T",
          "start": 1869
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000713",
      "geneNCBI_id": 410,
      "geneSymbol": "ARSA",
      "hgvs": [
        "NM_001085426.3:c.*120T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001078895.2:n.*120T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS676376"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1825,
          "referenceAllele": "T",
          "start": 1824
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000713",
      "geneNCBI_id": 410,
      "geneSymbol": "ARSA",
      "hgvs": [
        "NM_001085427.3:c.*120T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001078896.2:n.*120T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS676377"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1633,
          "referenceAllele": "T",
          "start": 1632
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000713",
      "geneNCBI_id": 410,
      "geneSymbol": "ARSA",
      "hgvs": [
        "NM_001085428.3:c.*120T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001078897.1:n.*120T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS676378"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1588,
          "referenceAllele": "T",
          "start": 1587
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000713",
      "geneNCBI_id": 410,
      "geneSymbol": "ARSA",
      "hgvs": [
        "NM_001362782.2:c.*120T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001349711.1:n.*120T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS690538"
    }
  ],
  "type": "nucleotide"
}