{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA1713924648",
  "communityStandardTitle": [
    "NM_000048.4(ASL):c.1060C= (p.Gln354=)"
  ],
  "externalRecords": {
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/367543005",
        "rs": 367543005
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "7",
      "coordinates": [
        {
          "allele": "C",
          "end": 66089693,
          "referenceAllele": "C",
          "start": 66089692
        }
      ],
      "hgvs": [
        "NC_000007.14:g.66089693C=",
        "CM000669.2:g.66089693C="
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000055"
    },
    {
      "chromosome": "7",
      "coordinates": [
        {
          "allele": "C",
          "end": 65554680,
          "referenceAllele": "C",
          "start": 65554679
        }
      ],
      "hgvs": [
        "NC_000007.13:g.65554680C=",
        "CM000669.1:g.65554680C="
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000031"
    },
    {
      "chromosome": "7",
      "coordinates": [
        {
          "allele": "C",
          "end": 65192115,
          "referenceAllele": "C",
          "start": 65192114
        }
      ],
      "hgvs": [
        "NC_000007.12:g.65192115C="
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000007"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 18905,
          "referenceAllele": "C",
          "start": 18904
        }
      ],
      "hgvs": [
        "NG_009288.1:g.18905C="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001544"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1141,
          "referenceAllele": "C",
          "start": 1140
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000746",
      "geneNCBI_id": 435,
      "geneSymbol": "ASL",
      "hgvs": [
        "ENST00000304874.14:c.1060C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000307188.9:p.Gln354="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS745152",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000304874.14:c.1060C="
          },
          "RefSeq": {
            "hgvs": "NM_000048.4:c.1060C="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000307188.9:p.Gln354="
          },
          "RefSeq": {
            "hgvs": "NP_000039.2:p.Gln354="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1010,
          "referenceAllele": "C",
          "start": 1009
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000746",
      "geneNCBI_id": 435,
      "geneSymbol": "ASL",
      "hgvs": [
        "ENST00000362000.10:c.865C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000354710.6:p.Gln289="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS749575"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1217,
          "referenceAllele": "C",
          "start": 1216
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000746",
      "geneNCBI_id": 435,
      "geneSymbol": "ASL",
      "hgvs": [
        "ENST00000380839.9:c.982C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000370219.4:p.Gln328="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS752449"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1138,
          "referenceAllele": "C",
          "start": 1137
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000746",
      "geneNCBI_id": 435,
      "geneSymbol": "ASL",
      "hgvs": [
        "ENST00000395331.4:c.1000C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000378740.3:p.Gln334="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS753384"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1253,
          "referenceAllele": "C",
          "start": 1252
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000746",
      "geneNCBI_id": 435,
      "geneSymbol": "ASL",
      "hgvs": [
        "ENST00000395332.8:c.1060C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000378741.3:p.Gln354="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS753385"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 147,
          "endIntronDirection": "+",
          "endIntronOffset": 358,
          "referenceAllele": "C",
          "start": 147,
          "startIntronDirection": "+",
          "startIntronOffset": 357
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000746",
      "geneNCBI_id": 435,
      "geneSymbol": "ASL",
      "hgvs": [
        "ENST00000488343.2:c.147+358C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000500864.1:n.147+358C="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS757586"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1119,
          "referenceAllele": "C",
          "start": 1118
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000746",
      "geneNCBI_id": 435,
      "geneSymbol": "ASL",
      "hgvs": [
        "ENST00000671817.1:c.982C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000500462.1:p.Gln328="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS773177"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1099,
          "referenceAllele": "C",
          "start": 1098
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000746",
      "geneNCBI_id": 435,
      "geneSymbol": "ASL",
      "hgvs": [
        "ENST00000672498.1:c.*359C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000500227.1:n.*359C="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS773401"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1819,
          "referenceAllele": "C",
          "start": 1818
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000746",
      "geneNCBI_id": 435,
      "geneSymbol": "ASL",
      "hgvs": [
        "ENST00000672586.1:n.1819C="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS773425"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2084,
          "referenceAllele": "C",
          "start": 2083
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000746",
      "geneNCBI_id": 435,
      "geneSymbol": "ASL",
      "hgvs": [
        "ENST00000672676.1:n.2084C="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS773454"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 872,
          "referenceAllele": "C",
          "start": 871
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000746",
      "geneNCBI_id": 435,
      "geneSymbol": "ASL",
      "hgvs": [
        "ENST00000673149.1:n.872C="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS773598"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 3177,
          "referenceAllele": "C",
          "start": 3176
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000746",
      "geneNCBI_id": 435,
      "geneSymbol": "ASL",
      "hgvs": [
        "ENST00000673350.1:n.3177C="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS773654"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1060,
          "referenceAllele": "C",
          "start": 1059
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000746",
      "geneNCBI_id": 435,
      "geneSymbol": "ASL",
      "hgvs": [
        "ENST00000673518.1:c.982C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000499889.1:p.Gln328="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS773711"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1162,
          "referenceAllele": "C",
          "start": 1161
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000746",
      "geneNCBI_id": 435,
      "geneSymbol": "ASL",
      "hgvs": [
        "ENST00000304874.13:c.1060C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000307188.9:p.Gln354="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS255521"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1198,
          "referenceAllele": "C",
          "start": 1197
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000746",
      "geneNCBI_id": 435,
      "geneSymbol": "ASL",
      "hgvs": [
        "ENST00000380839.8:c.982C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000370219.4:p.Gln328="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS273115"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1198,
          "referenceAllele": "C",
          "start": 1197
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000746",
      "geneNCBI_id": 435,
      "geneSymbol": "ASL",
      "hgvs": [
        "ENST00000395331.3:c.1000C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000378740.3:p.Gln334="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS276634"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1268,
          "referenceAllele": "C",
          "start": 1267
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000746",
      "geneNCBI_id": 435,
      "geneSymbol": "ASL",
      "hgvs": [
        "ENST00000395332.7:c.1060C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000378741.3:p.Gln354="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS276635"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 373,
          "referenceAllele": "C",
          "start": 372
        }
      ],
      "hgvs": [
        "ENST00000450043.2:c.373C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000396527.2:p.Gln125="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS300515"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 179,
          "referenceAllele": "C",
          "start": 178
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000746",
      "geneNCBI_id": 435,
      "geneSymbol": "ASL",
      "hgvs": [
        "ENST00000464970.1:n.179C="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS308672"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 147,
          "endIntronDirection": "+",
          "endIntronOffset": 358,
          "referenceAllele": "C",
          "start": 147,
          "startIntronDirection": "+",
          "startIntronOffset": 357
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000746",
      "geneNCBI_id": 435,
      "geneSymbol": "ASL",
      "hgvs": [
        "ENST00000488343.1:n.147+358C="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS326670"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 541,
          "referenceAllele": "C",
          "start": 540
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000746",
      "geneNCBI_id": 435,
      "geneSymbol": "ASL",
      "hgvs": [
        "ENST00000493708.5:n.541C="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS330805"
    },
    {
      "@id": "http://reg.genome.network/allele/PA3073518294",
      "coordinates": [
        {
          "allele": "C",
          "end": 1171,
          "referenceAllele": "C",
          "start": 1170
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000746",
      "geneNCBI_id": 435,
      "geneSymbol": "ASL",
      "hgvs": [
        "NM_000048.3:c.1060C="
      ],
      "proteinEffect": {
        "hgvs": "NP_000039.2:p.Gln354="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006113"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1295,
          "referenceAllele": "C",
          "start": 1294
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000746",
      "geneNCBI_id": 435,
      "geneSymbol": "ASL",
      "hgvs": [
        "NM_001024943.1:c.1060C="
      ],
      "proteinEffect": {
        "hgvs": "NP_001020114.1:p.Gln354="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS008813"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1235,
          "referenceAllele": "C",
          "start": 1234
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000746",
      "geneNCBI_id": 435,
      "geneSymbol": "ASL",
      "hgvs": [
        "NM_001024944.1:c.1000C="
      ],
      "proteinEffect": {
        "hgvs": "NP_001020115.1:p.Gln334="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS008814"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1217,
          "referenceAllele": "C",
          "start": 1216
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000746",
      "geneNCBI_id": 435,
      "geneSymbol": "ASL",
      "hgvs": [
        "NM_001024946.1:c.982C="
      ],
      "proteinEffect": {
        "hgvs": "NP_001020117.1:p.Gln328="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS008815"
    },
    {
      "@id": "http://reg.genome.network/allele/PA3073518294",
      "coordinates": [
        {
          "allele": "C",
          "end": 1141,
          "referenceAllele": "C",
          "start": 1140
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000746",
      "geneNCBI_id": 435,
      "geneSymbol": "ASL",
      "hgvs": [
        "NM_000048.4:c.1060C="
      ],
      "proteinEffect": {
        "hgvs": "NP_000039.2:p.Gln354="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS674677",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000304874.14:c.1060C="
          },
          "RefSeq": {
            "hgvs": "NM_000048.4:c.1060C="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000307188.9:p.Gln354="
          },
          "RefSeq": {
            "hgvs": "NP_000039.2:p.Gln354="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1323,
          "referenceAllele": "C",
          "start": 1322
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000746",
      "geneNCBI_id": 435,
      "geneSymbol": "ASL",
      "hgvs": [
        "NM_001024943.2:c.1060C="
      ],
      "proteinEffect": {
        "hgvs": "NP_001020114.1:p.Gln354="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS675647"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1263,
          "referenceAllele": "C",
          "start": 1262
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000746",
      "geneNCBI_id": 435,
      "geneSymbol": "ASL",
      "hgvs": [
        "NM_001024944.2:c.1000C="
      ],
      "proteinEffect": {
        "hgvs": "NP_001020115.1:p.Gln334="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS675648"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1245,
          "referenceAllele": "C",
          "start": 1244
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000746",
      "geneNCBI_id": 435,
      "geneSymbol": "ASL",
      "hgvs": [
        "NM_001024946.2:c.982C="
      ],
      "proteinEffect": {
        "hgvs": "NP_001020117.1:p.Gln328="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS675649"
    }
  ],
  "type": "nucleotide"
}