{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA325531102",
  "communityStandardTitle": [
    "NM_000487.6(ARSA):c.*127A>T"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=891538[alleleid]",
        "alleleId": 891538,
        "preferredName": "NM_000487.6(ARSA):c.*127A>T"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/900838",
        "RCV": [
          "RCV001146319"
        ],
        "variationId": 900838
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr22:g.51063446T>A?assembly=hg19",
        "id": "chr22:g.51063446T>A"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr22:g.50625018T>A?assembly=hg38",
        "id": "chr22:g.50625018T>A"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/977218325",
        "rs": 977218325
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/22-51063446-T-A?dataset=gnomad_r2_1",
        "id": "22-51063446-T-A",
        "variant": "22:51063446 T / A"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/22-50625018-T-A?dataset=gnomad_r3",
        "id": "22-50625018-T-A",
        "variant": "22:50625018 T / A"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/22-50625018-T-A?dataset=gnomad_r4",
        "id": "22-50625018-T-A",
        "variant": "22:50625018 T / A"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "22",
      "coordinates": [
        {
          "allele": "A",
          "end": 50625018,
          "referenceAllele": "T",
          "start": 50625017
        }
      ],
      "hgvs": [
        "NC_000022.11:g.50625018T>A",
        "CM000684.2:g.50625018T>A"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000070"
    },
    {
      "chromosome": "22",
      "coordinates": [
        {
          "allele": "A",
          "end": 51063446,
          "referenceAllele": "T",
          "start": 51063445
        }
      ],
      "hgvs": [
        "NC_000022.10:g.51063446T>A",
        "CM000684.1:g.51063446T>A"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000046"
    },
    {
      "chromosome": "22",
      "coordinates": [
        {
          "allele": "A",
          "end": 49410312,
          "referenceAllele": "T",
          "start": 49410311
        }
      ],
      "hgvs": [
        "NC_000022.9:g.49410312T>A"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000022"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 8162,
          "referenceAllele": "A",
          "start": 8161
        }
      ],
      "hgvs": [
        "NG_009260.2:g.8162A>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001525"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2030,
          "referenceAllele": "A",
          "start": 2029
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000713",
      "geneNCBI_id": 410,
      "geneSymbol": "ARSA",
      "hgvs": [
        "ENST00000216124.10:c.*127A>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000216124.5:n.*127A>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS740272",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000216124.10:c.*127A>T"
          },
          "RefSeq": {
            "hgvs": "NM_000487.6:c.*127A>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000216124.5:n.*127A>T"
          },
          "RefSeq": {
            "hgvs": "NP_000478.3:n.*127A>T"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2050,
          "referenceAllele": "A",
          "start": 2049
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000713",
      "geneNCBI_id": 410,
      "geneSymbol": "ARSA",
      "hgvs": [
        "ENST00000216124.9:c.*127A>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000216124.5:n.*127A>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247952"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1895,
          "referenceAllele": "A",
          "start": 1894
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000713",
      "geneNCBI_id": 410,
      "geneSymbol": "ARSA",
      "hgvs": [
        "ENST00000356098.9:c.*127A>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000348406.5:n.*127A>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS263645"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 180,
          "endIntronDirection": "+",
          "endIntronOffset": 345,
          "referenceAllele": "A",
          "start": 180,
          "startIntronDirection": "+",
          "startIntronOffset": 344
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000713",
      "geneNCBI_id": 410,
      "geneSymbol": "ARSA",
      "hgvs": [
        "ENST00000608497.1:c.180+345A>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS400049"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2051,
          "referenceAllele": "A",
          "start": 2050
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000713",
      "geneNCBI_id": 410,
      "geneSymbol": "ARSA",
      "hgvs": [
        "NM_000487.5:c.*127A>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_000478.3:n.*127A>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006541"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1946,
          "referenceAllele": "A",
          "start": 1945
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000713",
      "geneNCBI_id": 410,
      "geneSymbol": "ARSA",
      "hgvs": [
        "NM_001085425.2:c.*127A>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001078894.2:n.*127A>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS010459"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1898,
          "referenceAllele": "A",
          "start": 1897
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000713",
      "geneNCBI_id": 410,
      "geneSymbol": "ARSA",
      "hgvs": [
        "NM_001085426.2:c.*127A>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001078895.2:n.*127A>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS010460"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1853,
          "referenceAllele": "A",
          "start": 1852
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000713",
      "geneNCBI_id": 410,
      "geneSymbol": "ARSA",
      "hgvs": [
        "NM_001085427.2:c.*127A>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001078896.2:n.*127A>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS010461"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1661,
          "referenceAllele": "A",
          "start": 1660
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000713",
      "geneNCBI_id": 410,
      "geneSymbol": "ARSA",
      "hgvs": [
        "NM_001085428.2:c.*127A>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001078897.1:n.*127A>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS010462"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1616,
          "referenceAllele": "A",
          "start": 1615
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000713",
      "geneNCBI_id": 410,
      "geneSymbol": "ARSA",
      "hgvs": [
        "NM_001362782.1:c.*127A>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001349711.1:n.*127A>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS523060"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2030,
          "referenceAllele": "A",
          "start": 2029
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000713",
      "geneNCBI_id": 410,
      "geneSymbol": "ARSA",
      "hgvs": [
        "NM_000487.6:c.*127A>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_000478.3:n.*127A>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS662459",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000216124.10:c.*127A>T"
          },
          "RefSeq": {
            "hgvs": "NM_000487.6:c.*127A>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000216124.5:n.*127A>T"
          },
          "RefSeq": {
            "hgvs": "NP_000478.3:n.*127A>T"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1925,
          "referenceAllele": "A",
          "start": 1924
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000713",
      "geneNCBI_id": 410,
      "geneSymbol": "ARSA",
      "hgvs": [
        "NM_001085425.3:c.*127A>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001078894.2:n.*127A>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS676375"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1877,
          "referenceAllele": "A",
          "start": 1876
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000713",
      "geneNCBI_id": 410,
      "geneSymbol": "ARSA",
      "hgvs": [
        "NM_001085426.3:c.*127A>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001078895.2:n.*127A>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS676376"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1832,
          "referenceAllele": "A",
          "start": 1831
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000713",
      "geneNCBI_id": 410,
      "geneSymbol": "ARSA",
      "hgvs": [
        "NM_001085427.3:c.*127A>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001078896.2:n.*127A>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS676377"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1640,
          "referenceAllele": "A",
          "start": 1639
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000713",
      "geneNCBI_id": 410,
      "geneSymbol": "ARSA",
      "hgvs": [
        "NM_001085428.3:c.*127A>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001078897.1:n.*127A>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS676378"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1595,
          "referenceAllele": "A",
          "start": 1594
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000713",
      "geneNCBI_id": 410,
      "geneSymbol": "ARSA",
      "hgvs": [
        "NM_001362782.2:c.*127A>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001349711.1:n.*127A>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS690538"
    }
  ],
  "type": "nucleotide"
}