{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA1557697770",
  "communityStandardTitle": [
    "NM_000046.5(ARSB):c.707T= (p.Leu236=)"
  ],
  "externalRecords": {
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/118203940",
        "rs": 118203940
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "5",
      "coordinates": [
        {
          "allele": "A",
          "end": 78955486,
          "referenceAllele": "A",
          "start": 78955485
        }
      ],
      "hgvs": [
        "NC_000005.10:g.78955486A=",
        "CM000667.2:g.78955486A="
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000053"
    },
    {
      "chromosome": "5",
      "coordinates": [
        {
          "allele": "A",
          "end": 78251309,
          "referenceAllele": "A",
          "start": 78251308
        }
      ],
      "hgvs": [
        "NC_000005.9:g.78251309A=",
        "CM000667.1:g.78251309A="
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000029"
    },
    {
      "chromosome": "5",
      "coordinates": [
        {
          "allele": "A",
          "end": 78287065,
          "referenceAllele": "A",
          "start": 78287064
        }
      ],
      "hgvs": [
        "NC_000005.8:g.78287065A="
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000005"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 36049,
          "referenceAllele": "T",
          "start": 36048
        }
      ],
      "hgvs": [
        "NG_007089.1:g.36049T="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS000469"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 769,
          "referenceAllele": "T",
          "start": 768
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000714",
      "geneNCBI_id": 411,
      "geneSymbol": "ARSB",
      "hgvs": [
        "ENST00000264914.10:c.707T="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000264914.4:p.Leu236="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS742745",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000264914.10:c.707T="
          },
          "RefSeq": {
            "hgvs": "NM_000046.5:c.707T="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000264914.4:p.Leu236="
          },
          "RefSeq": {
            "hgvs": "NP_000037.2:p.Leu236="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 708,
          "referenceAllele": "T",
          "start": 707
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000714",
      "geneNCBI_id": 411,
      "geneSymbol": "ARSB",
      "hgvs": [
        "ENST00000565165.2:c.707T="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000456339.2:p.Leu236="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS760452"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1244,
          "referenceAllele": "T",
          "start": 1243
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000714",
      "geneNCBI_id": 411,
      "geneSymbol": "ARSB",
      "hgvs": [
        "ENST00000264914.8:c.707T="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000264914.4:p.Leu236="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS251619"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1206,
          "referenceAllele": "T",
          "start": 1205
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000714",
      "geneNCBI_id": 411,
      "geneSymbol": "ARSB",
      "hgvs": [
        "ENST00000396151.7:c.707T="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000379455.3:p.Leu236="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS277121"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1206,
          "referenceAllele": "T",
          "start": 1205
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000714",
      "geneNCBI_id": 411,
      "geneSymbol": "ARSB",
      "hgvs": [
        "ENST00000565165.1:c.707T="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000456339.1:p.Leu236="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS378576"
    },
    {
      "@id": "http://reg.genome.network/allele/PA3070948341",
      "coordinates": [
        {
          "allele": "T",
          "end": 1993,
          "referenceAllele": "T",
          "start": 1992
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000714",
      "geneNCBI_id": 411,
      "geneSymbol": "ARSB",
      "hgvs": [
        "NM_000046.3:c.707T="
      ],
      "proteinEffect": {
        "hgvs": "NP_000037.2:p.Leu236="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006111"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1062,
          "referenceAllele": "T",
          "start": 1061
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000714",
      "geneNCBI_id": 411,
      "geneSymbol": "ARSB",
      "hgvs": [
        "NM_198709.2:c.707T="
      ],
      "proteinEffect": {
        "hgvs": "NP_942002.1:p.Leu236="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS044709"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 769,
          "referenceAllele": "T",
          "start": 768
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000714",
      "geneNCBI_id": 411,
      "geneSymbol": "ARSB",
      "hgvs": [
        "XM_005248506.3:c.707T="
      ],
      "proteinEffect": {
        "hgvs": "XP_005248563.1:p.Leu236="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS058468"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 769,
          "referenceAllele": "T",
          "start": 768
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000714",
      "geneNCBI_id": 411,
      "geneSymbol": "ARSB",
      "hgvs": [
        "XM_006714615.2:c.707T="
      ],
      "proteinEffect": {
        "hgvs": "XP_006714678.1:p.Leu236="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS070747"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1206,
          "referenceAllele": "T",
          "start": 1205
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000714",
      "geneNCBI_id": 411,
      "geneSymbol": "ARSB",
      "hgvs": [
        "XM_011543390.1:c.707T="
      ],
      "proteinEffect": {
        "hgvs": "XP_011541692.1:p.Leu236="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS110314"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 769,
          "referenceAllele": "T",
          "start": 768
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000714",
      "geneNCBI_id": 411,
      "geneSymbol": "ARSB",
      "hgvs": [
        "XM_011543391.1:c.707T="
      ],
      "proteinEffect": {
        "hgvs": "XP_011541693.1:p.Leu236="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS110315"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 769,
          "referenceAllele": "T",
          "start": 768
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000714",
      "geneNCBI_id": 411,
      "geneSymbol": "ARSB",
      "hgvs": [
        "XM_011543392.1:c.707T="
      ],
      "proteinEffect": {
        "hgvs": "XP_011541694.1:p.Leu236="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS110316"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 769,
          "referenceAllele": "T",
          "start": 768
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000714",
      "geneNCBI_id": 411,
      "geneSymbol": "ARSB",
      "hgvs": [
        "XM_011543393.1:c.707T="
      ],
      "proteinEffect": {
        "hgvs": "XP_011541695.1:p.Leu236="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS110317"
    },
    {
      "@id": "http://reg.genome.network/allele/PA3070948341",
      "coordinates": [
        {
          "allele": "T",
          "end": 1246,
          "referenceAllele": "T",
          "start": 1245
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000714",
      "geneNCBI_id": 411,
      "geneSymbol": "ARSB",
      "hgvs": [
        "NM_000046.4:c.707T="
      ],
      "proteinEffect": {
        "hgvs": "NP_000037.2:p.Leu236="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS510744"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 778,
          "referenceAllele": "T",
          "start": 777
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000714",
      "geneNCBI_id": 411,
      "geneSymbol": "ARSB",
      "hgvs": [
        "XM_011543391.3:c.707T="
      ],
      "proteinEffect": {
        "hgvs": "XP_011541693.1:p.Leu236="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS555208"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 778,
          "referenceAllele": "T",
          "start": 777
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000714",
      "geneNCBI_id": 411,
      "geneSymbol": "ARSB",
      "hgvs": [
        "XM_011543392.3:c.707T="
      ],
      "proteinEffect": {
        "hgvs": "XP_011541694.1:p.Leu236="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS555209"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 778,
          "referenceAllele": "T",
          "start": 777
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000714",
      "geneNCBI_id": 411,
      "geneSymbol": "ARSB",
      "hgvs": [
        "XM_011543393.2:c.707T="
      ],
      "proteinEffect": {
        "hgvs": "XP_011541695.1:p.Leu236="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS555210"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 778,
          "referenceAllele": "T",
          "start": 777
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000714",
      "geneNCBI_id": 411,
      "geneSymbol": "ARSB",
      "hgvs": [
        "XM_017009471.2:c.707T="
      ],
      "proteinEffect": {
        "hgvs": "XP_016864960.1:p.Leu236="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS563786"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 778,
          "referenceAllele": "T",
          "start": 777
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000714",
      "geneNCBI_id": 411,
      "geneSymbol": "ARSB",
      "hgvs": [
        "XR_001742065.2:n.778T="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS591933"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 778,
          "referenceAllele": "T",
          "start": 777
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000714",
      "geneNCBI_id": 411,
      "geneSymbol": "ARSB",
      "hgvs": [
        "XR_001742066.2:n.778T="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS591934"
    },
    {
      "@id": "http://reg.genome.network/allele/PA3070948341",
      "coordinates": [
        {
          "allele": "T",
          "end": 769,
          "referenceAllele": "T",
          "start": 768
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000714",
      "geneNCBI_id": 411,
      "geneSymbol": "ARSB",
      "hgvs": [
        "NM_000046.5:c.707T="
      ],
      "proteinEffect": {
        "hgvs": "NP_000037.2:p.Leu236="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS662300",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000264914.10:c.707T="
          },
          "RefSeq": {
            "hgvs": "NM_000046.5:c.707T="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000264914.4:p.Leu236="
          },
          "RefSeq": {
            "hgvs": "NP_000037.2:p.Leu236="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1077,
          "referenceAllele": "T",
          "start": 1076
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000714",
      "geneNCBI_id": 411,
      "geneSymbol": "ARSB",
      "hgvs": [
        "NM_198709.3:c.707T="
      ],
      "proteinEffect": {
        "hgvs": "NP_942002.1:p.Leu236="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS701393"
    }
  ],
  "type": "nucleotide"
}