{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA367645384",
  "communityStandardTitle": [
    "NM_000048.4(ASL):c.834-1G>A"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=2838511[alleleid]",
        "alleleId": 2838511,
        "preferredName": "NM_000048.4(ASL):c.834-1G>A"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/2678793",
        "RCV": [
          "RCV003472784"
        ],
        "variationId": 2678793
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr7:g.65554077G>A?assembly=hg19",
        "id": "chr7:g.65554077G>A"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr7:g.66089090G>A?assembly=hg38",
        "id": "chr7:g.66089090G>A"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/768722904",
        "rs": 768722904
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "7",
      "coordinates": [
        {
          "allele": "A",
          "end": 66089090,
          "referenceAllele": "G",
          "start": 66089089
        }
      ],
      "hgvs": [
        "NC_000007.14:g.66089090G>A",
        "CM000669.2:g.66089090G>A"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000055"
    },
    {
      "chromosome": "7",
      "coordinates": [
        {
          "allele": "A",
          "end": 65554077,
          "referenceAllele": "G",
          "start": 65554076
        }
      ],
      "hgvs": [
        "NC_000007.13:g.65554077G>A",
        "CM000669.1:g.65554077G>A"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000031"
    },
    {
      "chromosome": "7",
      "coordinates": [
        {
          "allele": "A",
          "end": 65191512,
          "referenceAllele": "G",
          "start": 65191511
        }
      ],
      "hgvs": [
        "NC_000007.12:g.65191512G>A"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000007"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 18302,
          "referenceAllele": "G",
          "start": 18301
        }
      ],
      "hgvs": [
        "NG_009288.1:g.18302G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001544"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 914,
          "endIntronDirection": "-",
          "endIntronOffset": 0,
          "referenceAllele": "G",
          "start": 914,
          "startIntronDirection": "-",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000746",
      "geneNCBI_id": 435,
      "geneSymbol": "ASL",
      "hgvs": [
        "ENST00000304874.14:c.834-1G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000307188.9:n.834-1G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS745152",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000304874.14:c.834-1G>A"
          },
          "RefSeq": {
            "hgvs": "NM_000048.4:c.834-1G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000307188.9:n.834-1G>A"
          },
          "RefSeq": {
            "hgvs": "NP_000039.2:n.834-1G>A"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 783,
          "endIntronDirection": "-",
          "endIntronOffset": 0,
          "referenceAllele": "G",
          "start": 783,
          "startIntronDirection": "-",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000746",
      "geneNCBI_id": 435,
      "geneSymbol": "ASL",
      "hgvs": [
        "ENST00000362000.10:c.639-1G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000354710.6:n.639-1G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS749575"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 990,
          "endIntronDirection": "-",
          "endIntronOffset": 0,
          "referenceAllele": "G",
          "start": 990,
          "startIntronDirection": "-",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000746",
      "geneNCBI_id": 435,
      "geneSymbol": "ASL",
      "hgvs": [
        "ENST00000380839.9:c.756-1G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000370219.4:n.756-1G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS752449"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 971,
          "endIntronDirection": "-",
          "endIntronOffset": 0,
          "referenceAllele": "G",
          "start": 971,
          "startIntronDirection": "-",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000746",
      "geneNCBI_id": 435,
      "geneSymbol": "ASL",
      "hgvs": [
        "ENST00000395331.4:c.834-1G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000378740.3:n.834-1G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS753384"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1026,
          "endIntronDirection": "-",
          "endIntronOffset": 0,
          "referenceAllele": "G",
          "start": 1026,
          "startIntronDirection": "-",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000746",
      "geneNCBI_id": 435,
      "geneSymbol": "ASL",
      "hgvs": [
        "ENST00000395332.8:c.834-1G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000378741.3:n.834-1G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS753385"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2,
          "endIntronDirection": "-",
          "endIntronOffset": 0,
          "referenceAllele": "G",
          "start": 2,
          "startIntronDirection": "-",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000746",
      "geneNCBI_id": 435,
      "geneSymbol": "ASL",
      "hgvs": [
        "ENST00000488343.2:c.3-1G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000500864.1:n.3-1G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS757586"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 892,
          "endIntronDirection": "-",
          "endIntronOffset": 0,
          "referenceAllele": "G",
          "start": 892,
          "startIntronDirection": "-",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000746",
      "geneNCBI_id": 435,
      "geneSymbol": "ASL",
      "hgvs": [
        "ENST00000671817.1:c.756-1G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000500462.1:n.756-1G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS773177"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 872,
          "endIntronDirection": "-",
          "endIntronOffset": 0,
          "referenceAllele": "G",
          "start": 872,
          "startIntronDirection": "-",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000746",
      "geneNCBI_id": 435,
      "geneSymbol": "ASL",
      "hgvs": [
        "ENST00000672498.1:c.*133-1G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000500227.1:n.*133-1G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS773401"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1592,
          "endIntronDirection": "-",
          "endIntronOffset": 0,
          "referenceAllele": "G",
          "start": 1592,
          "startIntronDirection": "-",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000746",
      "geneNCBI_id": 435,
      "geneSymbol": "ASL",
      "hgvs": [
        "ENST00000672586.1:n.1593-1G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS773425"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1857,
          "endIntronDirection": "-",
          "endIntronOffset": 0,
          "referenceAllele": "G",
          "start": 1857,
          "startIntronDirection": "-",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000746",
      "geneNCBI_id": 435,
      "geneSymbol": "ASL",
      "hgvs": [
        "ENST00000672676.1:n.1858-1G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS773454"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 645,
          "endIntronDirection": "-",
          "endIntronOffset": 0,
          "referenceAllele": "G",
          "start": 645,
          "startIntronDirection": "-",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000746",
      "geneNCBI_id": 435,
      "geneSymbol": "ASL",
      "hgvs": [
        "ENST00000673149.1:n.646-1G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS773598"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2950,
          "endIntronDirection": "-",
          "endIntronOffset": 0,
          "referenceAllele": "G",
          "start": 2950,
          "startIntronDirection": "-",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000746",
      "geneNCBI_id": 435,
      "geneSymbol": "ASL",
      "hgvs": [
        "ENST00000673350.1:n.2951-1G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS773654"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 833,
          "endIntronDirection": "-",
          "endIntronOffset": 0,
          "referenceAllele": "G",
          "start": 833,
          "startIntronDirection": "-",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000746",
      "geneNCBI_id": 435,
      "geneSymbol": "ASL",
      "hgvs": [
        "ENST00000673518.1:c.756-1G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000499889.1:n.756-1G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS773711"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 935,
          "endIntronDirection": "-",
          "endIntronOffset": 0,
          "referenceAllele": "G",
          "start": 935,
          "startIntronDirection": "-",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000746",
      "geneNCBI_id": 435,
      "geneSymbol": "ASL",
      "hgvs": [
        "ENST00000304874.13:c.834-1G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000307188.9:n.834-1G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS255521"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 840,
          "endIntronDirection": "-",
          "endIntronOffset": 0,
          "referenceAllele": "G",
          "start": 840,
          "startIntronDirection": "-",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000746",
      "geneNCBI_id": 435,
      "geneSymbol": "ASL",
      "hgvs": [
        "ENST00000362000.9:c.639-1G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000354710.5:n.639-1G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS265746"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 971,
          "endIntronDirection": "-",
          "endIntronOffset": 0,
          "referenceAllele": "G",
          "start": 971,
          "startIntronDirection": "-",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000746",
      "geneNCBI_id": 435,
      "geneSymbol": "ASL",
      "hgvs": [
        "ENST00000380839.8:c.756-1G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000370219.4:n.756-1G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS273115"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1031,
          "endIntronDirection": "-",
          "endIntronOffset": 0,
          "referenceAllele": "G",
          "start": 1031,
          "startIntronDirection": "-",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000746",
      "geneNCBI_id": 435,
      "geneSymbol": "ASL",
      "hgvs": [
        "ENST00000395331.3:c.834-1G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000378740.3:n.834-1G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS276634"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1041,
          "endIntronDirection": "-",
          "endIntronOffset": 0,
          "referenceAllele": "G",
          "start": 1041,
          "startIntronDirection": "-",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000746",
      "geneNCBI_id": 435,
      "geneSymbol": "ASL",
      "hgvs": [
        "ENST00000395332.7:c.834-1G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000378741.3:n.834-1G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS276635"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 146,
          "endIntronDirection": "-",
          "endIntronOffset": 0,
          "referenceAllele": "G",
          "start": 146,
          "startIntronDirection": "-",
          "startIntronOffset": 1
        }
      ],
      "hgvs": [
        "ENST00000450043.2:c.147-1G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000396527.2:n.147-1G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS300515"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2,
          "referenceAllele": "G",
          "start": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000746",
      "geneNCBI_id": 435,
      "geneSymbol": "ASL",
      "hgvs": [
        "ENST00000488343.1:n.2G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS326670"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 214,
          "endIntronDirection": "-",
          "endIntronOffset": 0,
          "referenceAllele": "G",
          "start": 214,
          "startIntronDirection": "-",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000746",
      "geneNCBI_id": 435,
      "geneSymbol": "ASL",
      "hgvs": [
        "ENST00000493708.5:n.215-1G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS330805"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 944,
          "endIntronDirection": "-",
          "endIntronOffset": 0,
          "referenceAllele": "G",
          "start": 944,
          "startIntronDirection": "-",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000746",
      "geneNCBI_id": 435,
      "geneSymbol": "ASL",
      "hgvs": [
        "NM_000048.3:c.834-1G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_000039.2:n.834-1G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006113"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1068,
          "endIntronDirection": "-",
          "endIntronOffset": 0,
          "referenceAllele": "G",
          "start": 1068,
          "startIntronDirection": "-",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000746",
      "geneNCBI_id": 435,
      "geneSymbol": "ASL",
      "hgvs": [
        "NM_001024943.1:c.834-1G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001020114.1:n.834-1G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS008813"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1068,
          "endIntronDirection": "-",
          "endIntronOffset": 0,
          "referenceAllele": "G",
          "start": 1068,
          "startIntronDirection": "-",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000746",
      "geneNCBI_id": 435,
      "geneSymbol": "ASL",
      "hgvs": [
        "NM_001024944.1:c.834-1G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001020115.1:n.834-1G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS008814"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 990,
          "endIntronDirection": "-",
          "endIntronOffset": 0,
          "referenceAllele": "G",
          "start": 990,
          "startIntronDirection": "-",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000746",
      "geneNCBI_id": 435,
      "geneSymbol": "ASL",
      "hgvs": [
        "NM_001024946.1:c.756-1G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001020117.1:n.756-1G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS008815"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 914,
          "endIntronDirection": "-",
          "endIntronOffset": 0,
          "referenceAllele": "G",
          "start": 914,
          "startIntronDirection": "-",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000746",
      "geneNCBI_id": 435,
      "geneSymbol": "ASL",
      "hgvs": [
        "NM_000048.4:c.834-1G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_000039.2:n.834-1G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS674677",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000304874.14:c.834-1G>A"
          },
          "RefSeq": {
            "hgvs": "NM_000048.4:c.834-1G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000307188.9:n.834-1G>A"
          },
          "RefSeq": {
            "hgvs": "NP_000039.2:n.834-1G>A"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1096,
          "endIntronDirection": "-",
          "endIntronOffset": 0,
          "referenceAllele": "G",
          "start": 1096,
          "startIntronDirection": "-",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000746",
      "geneNCBI_id": 435,
      "geneSymbol": "ASL",
      "hgvs": [
        "NM_001024943.2:c.834-1G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001020114.1:n.834-1G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS675647"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1096,
          "endIntronDirection": "-",
          "endIntronOffset": 0,
          "referenceAllele": "G",
          "start": 1096,
          "startIntronDirection": "-",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000746",
      "geneNCBI_id": 435,
      "geneSymbol": "ASL",
      "hgvs": [
        "NM_001024944.2:c.834-1G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001020115.1:n.834-1G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS675648"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1018,
          "endIntronDirection": "-",
          "endIntronOffset": 0,
          "referenceAllele": "G",
          "start": 1018,
          "startIntronDirection": "-",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000746",
      "geneNCBI_id": 435,
      "geneSymbol": "ASL",
      "hgvs": [
        "NM_001024946.2:c.756-1G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001020117.1:n.756-1G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS675649"
    }
  ],
  "type": "nucleotide"
}