{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA325107",
  "communityStandardTitle": [
    "NM_001079866.2(BCS1L):c.126A>G (p.Ala42=)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=210768[alleleid]",
        "alleleId": 210768,
        "preferredName": "NM_001079866.2(BCS1L):c.126A>G (p.Ala42=)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/214156",
        "RCV": [
          "RCV000200525",
          "RCV000886562",
          "RCV001140092",
          "RCV001140093",
          "RCV001140853"
        ],
        "variationId": 214156
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/2-219525836-A-G",
        "id": "2-219525836-A-G",
        "variant": "2:219525836 A / G"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr2:g.219525836A>G?assembly=hg19",
        "id": "chr2:g.219525836A>G"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr2:g.218661113A>G?assembly=hg38",
        "id": "chr2:g.218661113A>G"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/144200704",
        "rs": 144200704
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/2-219525836-A-G?dataset=gnomad_r2_1",
        "id": "2-219525836-A-G",
        "variant": "2:219525836 A / G"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/2-218661113-A-G?dataset=gnomad_r3",
        "id": "2-218661113-A-G",
        "variant": "2:218661113 A / G"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/2-218661113-A-G?dataset=gnomad_r4",
        "id": "2-218661113-A-G",
        "variant": "2:218661113 A / G"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "2",
      "coordinates": [
        {
          "allele": "G",
          "end": 218661113,
          "referenceAllele": "A",
          "start": 218661112
        }
      ],
      "hgvs": [
        "NC_000002.12:g.218661113A>G",
        "CM000664.2:g.218661113A>G"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000050"
    },
    {
      "chromosome": "2",
      "coordinates": [
        {
          "allele": "G",
          "end": 219525836,
          "referenceAllele": "A",
          "start": 219525835
        }
      ],
      "hgvs": [
        "NC_000002.11:g.219525836A>G",
        "CM000664.1:g.219525836A>G"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000026"
    },
    {
      "chromosome": "2",
      "coordinates": [
        {
          "allele": "G",
          "end": 219234080,
          "referenceAllele": "A",
          "start": 219234079
        }
      ],
      "hgvs": [
        "NC_000002.10:g.219234080A>G"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000002"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 6458,
          "referenceAllele": "A",
          "start": 6457
        }
      ],
      "hgvs": [
        "NG_008018.1:g.6458A>G",
        "LRG_539:g.6458A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS000778"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 3428,
          "referenceAllele": "T",
          "start": 3427
        }
      ],
      "hgvs": [
        "NG_033099.1:g.3428T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS005426"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 236,
          "referenceAllele": "A",
          "start": 235
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001020",
      "geneNCBI_id": 617,
      "geneSymbol": "BCS1L",
      "hgvs": [
        "ENST00000359273.8:c.126A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000352219.3:p.Ala42="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS749177",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000359273.8:c.126A>G"
          },
          "RefSeq": {
            "hgvs": "NM_001079866.2:c.126A>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000352219.3:p.Ala42="
          },
          "RefSeq": {
            "hgvs": "NP_001073335.1:p.Ala42="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 445,
          "referenceAllele": "A",
          "start": 444
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001020",
      "geneNCBI_id": 617,
      "geneSymbol": "BCS1L",
      "hgvs": [
        "ENST00000392111.7:c.126A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000375959.2:p.Ala42="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS752967"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 533,
          "referenceAllele": "A",
          "start": 532
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001020",
      "geneNCBI_id": 617,
      "geneSymbol": "BCS1L",
      "hgvs": [
        "ENST00000643945.1:c.126A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000496514.1:p.Ala42="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS767558"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 263,
          "referenceAllele": "A",
          "start": 262
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001020",
      "geneNCBI_id": 617,
      "geneSymbol": "BCS1L",
      "hgvs": [
        "ENST00000359273.7:c.126A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000352219.3:p.Ala42="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS264738"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 392,
          "referenceAllele": "A",
          "start": 391
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001020",
      "geneNCBI_id": 617,
      "geneSymbol": "BCS1L",
      "hgvs": [
        "ENST00000392109.5:c.126A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000375957.1:p.Ala42="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS274926"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 335,
          "referenceAllele": "A",
          "start": 334
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001020",
      "geneNCBI_id": 617,
      "geneSymbol": "BCS1L",
      "hgvs": [
        "ENST00000392110.6:c.126A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000375958.2:p.Ala42="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS274927"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 393,
          "referenceAllele": "A",
          "start": 392
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001020",
      "geneNCBI_id": 617,
      "geneSymbol": "BCS1L",
      "hgvs": [
        "ENST00000392111.6:c.126A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000375959.2:p.Ala42="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS274928"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 239,
          "referenceAllele": "A",
          "start": 238
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001020",
      "geneNCBI_id": 617,
      "geneSymbol": "BCS1L",
      "hgvs": [
        "ENST00000412366.5:c.126A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000406494.1:p.Ala42="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS282575"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 378,
          "referenceAllele": "A",
          "start": 377
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001020",
      "geneNCBI_id": 617,
      "geneSymbol": "BCS1L",
      "hgvs": [
        "ENST00000423377.5:c.126A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000397293.1:p.Ala42="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS287731"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 700,
          "referenceAllele": "A",
          "start": 699
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001020",
      "geneNCBI_id": 617,
      "geneSymbol": "BCS1L",
      "hgvs": [
        "ENST00000428880.5:c.126A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000391007.1:p.Ala42="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS290411"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 544,
          "referenceAllele": "A",
          "start": 543
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001020",
      "geneNCBI_id": 617,
      "geneSymbol": "BCS1L",
      "hgvs": [
        "ENST00000430322.5:c.126A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000398957.1:p.Ala42="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS291088"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 825,
          "referenceAllele": "A",
          "start": 824
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001020",
      "geneNCBI_id": 617,
      "geneSymbol": "BCS1L",
      "hgvs": [
        "ENST00000431802.5:c.126A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000413908.1:p.Ala42="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS291787"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 331,
          "referenceAllele": "A",
          "start": 330
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001020",
      "geneNCBI_id": 617,
      "geneSymbol": "BCS1L",
      "hgvs": [
        "ENST00000439945.5:c.126A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000404999.1:p.Ala42="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS295653"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 88,
          "endIntronDirection": "-",
          "endIntronOffset": 292,
          "referenceAllele": "A",
          "start": 88,
          "startIntronDirection": "-",
          "startIntronOffset": 293
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001020",
      "geneNCBI_id": 617,
      "geneSymbol": "BCS1L",
      "hgvs": [
        "ENST00000443791.5:c.-40-293A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000412729.1:n.-40-293A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS297511"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 323,
          "referenceAllele": "A",
          "start": 322
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001020",
      "geneNCBI_id": 617,
      "geneSymbol": "BCS1L",
      "hgvs": [
        "ENST00000456050.5:c.126A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000395440.1:p.Ala42="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS303316"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 50,
          "referenceAllele": "A",
          "start": 49
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001020",
      "geneNCBI_id": 617,
      "geneSymbol": "BCS1L",
      "hgvs": [
        "ENST00000471576.5:n.50A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS313745"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 247,
          "referenceAllele": "A",
          "start": 246
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001020",
      "geneNCBI_id": 617,
      "geneSymbol": "BCS1L",
      "hgvs": [
        "ENST00000493376.1:n.247A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS330537"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825459044",
      "coordinates": [
        {
          "allele": "G",
          "end": 263,
          "referenceAllele": "A",
          "start": 262
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001020",
      "geneNCBI_id": 617,
      "geneSymbol": "BCS1L",
      "hgvs": [
        "NM_001079866.1:c.126A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001073335.1:p.Ala42="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS010118"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826439848",
      "coordinates": [
        {
          "allele": "G",
          "end": 393,
          "referenceAllele": "A",
          "start": 392
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001020",
      "geneNCBI_id": 617,
      "geneSymbol": "BCS1L",
      "hgvs": [
        "NM_001257342.1:c.126A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001244271.1:p.Ala42="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS019606"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826440692",
      "coordinates": [
        {
          "allele": "G",
          "end": 445,
          "referenceAllele": "A",
          "start": 444
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001020",
      "geneNCBI_id": 617,
      "geneSymbol": "BCS1L",
      "hgvs": [
        "NM_001257343.1:c.126A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001244272.1:p.Ala42="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS019607"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826441314",
      "coordinates": [
        {
          "allele": "G",
          "end": 320,
          "referenceAllele": "A",
          "start": 319
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001020",
      "geneNCBI_id": 617,
      "geneSymbol": "BCS1L",
      "hgvs": [
        "NM_001257344.1:c.126A>G",
        "LRG_539t2:c.126A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001244273.1:p.Ala42="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS019608"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829530991",
      "coordinates": [
        {
          "allele": "G",
          "end": 472,
          "referenceAllele": "A",
          "start": 471
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001020",
      "geneNCBI_id": 617,
      "geneSymbol": "BCS1L",
      "hgvs": [
        "NM_004328.4:c.126A>G",
        "LRG_539t1:c.126A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_004319.1:p.Ala42="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS029497"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 820,
          "referenceAllele": "A",
          "start": 819
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001020",
      "geneNCBI_id": 617,
      "geneSymbol": "BCS1L",
      "hgvs": [
        "XM_005246747.3:c.126A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_005246804.1:p.Ala42="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS057772"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 80,
          "endIntronDirection": "-",
          "endIntronOffset": 645,
          "referenceAllele": "A",
          "start": 80,
          "startIntronDirection": "-",
          "startIntronOffset": 646
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001020",
      "geneNCBI_id": 617,
      "geneSymbol": "BCS1L",
      "hgvs": [
        "XM_005246749.3:c.-41-646A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_005246806.1:n.-41-646A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS057774"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 878,
          "referenceAllele": "A",
          "start": 877
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001020",
      "geneNCBI_id": 617,
      "geneSymbol": "BCS1L",
      "hgvs": [
        "XM_006712678.1:c.126A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_006712741.1:p.Ala42="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS069766"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 352,
          "referenceAllele": "A",
          "start": 351
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001020",
      "geneNCBI_id": 617,
      "geneSymbol": "BCS1L",
      "hgvs": [
        "XM_011511587.1:c.126A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011509889.1:p.Ala42="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS078848"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 83,
          "endIntronDirection": "-",
          "endIntronOffset": 292,
          "referenceAllele": "A",
          "start": 83,
          "startIntronDirection": "-",
          "startIntronOffset": 293
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001020",
      "geneNCBI_id": 617,
      "geneSymbol": "BCS1L",
      "hgvs": [
        "XM_011511588.1:c.-40-293A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011509890.1:n.-40-293A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS078849"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1068,
          "referenceAllele": "A",
          "start": 1067
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001020",
      "geneNCBI_id": 617,
      "geneSymbol": "BCS1L",
      "hgvs": [
        "XR_427105.1:n.1068A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS117616"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 88,
          "endIntronDirection": "-",
          "endIntronOffset": 292,
          "referenceAllele": "A",
          "start": 88,
          "startIntronDirection": "-",
          "startIntronOffset": 293
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001020",
      "geneNCBI_id": 617,
      "geneSymbol": "BCS1L",
      "hgvs": [
        "NM_001318836.1:c.-40-293A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001305765.1:n.-40-293A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS513071"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827054523",
      "coordinates": [
        {
          "allele": "G",
          "end": 435,
          "referenceAllele": "A",
          "start": 434
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001020",
      "geneNCBI_id": 617,
      "geneSymbol": "BCS1L",
      "hgvs": [
        "NM_001320717.1:c.126A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001307646.1:p.Ala42="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS513754"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 872,
          "referenceAllele": "A",
          "start": 871
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001020",
      "geneNCBI_id": 617,
      "geneSymbol": "BCS1L",
      "hgvs": [
        "XM_005246748.3:c.-351A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_005246805.1:n.-351A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS532688"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 634,
          "referenceAllele": "A",
          "start": 633
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001020",
      "geneNCBI_id": 617,
      "geneSymbol": "BCS1L",
      "hgvs": [
        "XM_017004631.1:c.126A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_016860120.1:p.Ala42="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS560093"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 359,
          "referenceAllele": "A",
          "start": 358
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001020",
      "geneNCBI_id": 617,
      "geneSymbol": "BCS1L",
      "hgvs": [
        "XM_017004632.1:c.126A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_016860121.1:p.Ala42="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS560094"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1138,
          "referenceAllele": "A",
          "start": 1137
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001020",
      "geneNCBI_id": 617,
      "geneSymbol": "BCS1L",
      "hgvs": [
        "XM_017004633.2:c.-351A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_016860122.1:n.-351A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS560095"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 202,
          "referenceAllele": "A",
          "start": 201
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001020",
      "geneNCBI_id": 617,
      "geneSymbol": "BCS1L",
      "hgvs": [
        "XM_017004634.2:c.-351A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_016860123.1:n.-351A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS560096"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1138,
          "referenceAllele": "A",
          "start": 1137
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001020",
      "geneNCBI_id": 617,
      "geneSymbol": "BCS1L",
      "hgvs": [
        "XR_427105.3:n.1138A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS606395"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825459044",
      "coordinates": [
        {
          "allele": "G",
          "end": 236,
          "referenceAllele": "A",
          "start": 235
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001020",
      "geneNCBI_id": 617,
      "geneSymbol": "BCS1L",
      "hgvs": [
        "NM_001079866.2:c.126A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001073335.1:p.Ala42="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS676231",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000359273.8:c.126A>G"
          },
          "RefSeq": {
            "hgvs": "NM_001079866.2:c.126A>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000352219.3:p.Ala42="
          },
          "RefSeq": {
            "hgvs": "NP_001073335.1:p.Ala42="
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826439848",
      "coordinates": [
        {
          "allele": "G",
          "end": 366,
          "referenceAllele": "A",
          "start": 365
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001020",
      "geneNCBI_id": 617,
      "geneSymbol": "BCS1L",
      "hgvs": [
        "NM_001257342.2:c.126A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001244271.1:p.Ala42="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS680721"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826440692",
      "coordinates": [
        {
          "allele": "G",
          "end": 418,
          "referenceAllele": "A",
          "start": 417
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001020",
      "geneNCBI_id": 617,
      "geneSymbol": "BCS1L",
      "hgvs": [
        "NM_001257343.2:c.126A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001244272.1:p.Ala42="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS680722"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826441314",
      "coordinates": [
        {
          "allele": "G",
          "end": 293,
          "referenceAllele": "A",
          "start": 292
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001020",
      "geneNCBI_id": 617,
      "geneSymbol": "BCS1L",
      "hgvs": [
        "NM_001257344.2:c.126A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001244273.1:p.Ala42="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS680723"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 61,
          "endIntronDirection": "-",
          "endIntronOffset": 292,
          "referenceAllele": "A",
          "start": 61,
          "startIntronDirection": "-",
          "startIntronOffset": 293
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001020",
      "geneNCBI_id": 617,
      "geneSymbol": "BCS1L",
      "hgvs": [
        "NM_001318836.2:c.-40-293A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001305765.1:n.-40-293A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS684623"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827054523",
      "coordinates": [
        {
          "allele": "G",
          "end": 408,
          "referenceAllele": "A",
          "start": 407
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001020",
      "geneNCBI_id": 617,
      "geneSymbol": "BCS1L",
      "hgvs": [
        "NM_001320717.2:c.126A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001307646.1:p.Ala42="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS685015"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828487666",
      "coordinates": [
        {
          "allele": "G",
          "end": 351,
          "referenceAllele": "A",
          "start": 350
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001020",
      "geneNCBI_id": 617,
      "geneSymbol": "BCS1L",
      "hgvs": [
        "NM_001371443.1:c.126A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001358372.1:p.Ala42="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS692910"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828487974",
      "coordinates": [
        {
          "allele": "G",
          "end": 621,
          "referenceAllele": "A",
          "start": 620
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001020",
      "geneNCBI_id": 617,
      "geneSymbol": "BCS1L",
      "hgvs": [
        "NM_001371444.1:c.126A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001358373.1:p.Ala42="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS692911"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828488284",
      "coordinates": [
        {
          "allele": "G",
          "end": 1241,
          "referenceAllele": "A",
          "start": 1240
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001020",
      "geneNCBI_id": 617,
      "geneSymbol": "BCS1L",
      "hgvs": [
        "NM_001371446.1:c.126A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001358375.1:p.Ala42="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS692913"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828488592",
      "coordinates": [
        {
          "allele": "G",
          "end": 218,
          "referenceAllele": "A",
          "start": 217
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001020",
      "geneNCBI_id": 617,
      "geneSymbol": "BCS1L",
      "hgvs": [
        "NM_001371447.1:c.126A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001358376.1:p.Ala42="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS692914"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828488900",
      "coordinates": [
        {
          "allele": "G",
          "end": 419,
          "referenceAllele": "A",
          "start": 418
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001020",
      "geneNCBI_id": 617,
      "geneSymbol": "BCS1L",
      "hgvs": [
        "NM_001371448.1:c.126A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001358377.1:p.Ala42="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS692915"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828489208",
      "coordinates": [
        {
          "allele": "G",
          "end": 533,
          "referenceAllele": "A",
          "start": 532
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001020",
      "geneNCBI_id": 617,
      "geneSymbol": "BCS1L",
      "hgvs": [
        "NM_001371449.1:c.126A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001358378.1:p.Ala42="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS692916"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828489516",
      "coordinates": [
        {
          "allele": "G",
          "end": 914,
          "referenceAllele": "A",
          "start": 913
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001020",
      "geneNCBI_id": 617,
      "geneSymbol": "BCS1L",
      "hgvs": [
        "NM_001371450.1:c.126A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001358379.1:p.Ala42="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS692917"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1066,
          "endIntronDirection": "-",
          "endIntronOffset": 292,
          "referenceAllele": "A",
          "start": 1066,
          "startIntronDirection": "-",
          "startIntronOffset": 293
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001020",
      "geneNCBI_id": 617,
      "geneSymbol": "BCS1L",
      "hgvs": [
        "NM_001371451.1:c.-40-293A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001358380.1:n.-40-293A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS692918"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 61,
          "endIntronDirection": "-",
          "endIntronOffset": 645,
          "referenceAllele": "A",
          "start": 61,
          "startIntronDirection": "-",
          "startIntronOffset": 646
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001020",
      "geneNCBI_id": 617,
      "geneSymbol": "BCS1L",
      "hgvs": [
        "NM_001371452.1:c.-41-646A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001358381.1:n.-41-646A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS692919"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1138,
          "referenceAllele": "A",
          "start": 1137
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001020",
      "geneNCBI_id": 617,
      "geneSymbol": "BCS1L",
      "hgvs": [
        "NM_001371453.1:c.-351A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001358382.1:n.-351A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS692920"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 914,
          "referenceAllele": "A",
          "start": 913
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001020",
      "geneNCBI_id": 617,
      "geneSymbol": "BCS1L",
      "hgvs": [
        "NM_001371454.1:c.-351A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001358383.1:n.-351A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS692921"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 236,
          "referenceAllele": "A",
          "start": 235
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001020",
      "geneNCBI_id": 617,
      "geneSymbol": "BCS1L",
      "hgvs": [
        "NM_001371455.1:c.-351A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001358384.1:n.-351A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS692922"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 366,
          "referenceAllele": "A",
          "start": 365
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001020",
      "geneNCBI_id": 617,
      "geneSymbol": "BCS1L",
      "hgvs": [
        "NM_001371456.1:c.-351A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001358385.1:n.-351A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS692923"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828472676",
      "coordinates": [
        {
          "allele": "G",
          "end": 1431,
          "referenceAllele": "A",
          "start": 1430
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001020",
      "geneNCBI_id": 617,
      "geneSymbol": "BCS1L",
      "hgvs": [
        "NM_001374085.1:c.126A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001361014.1:p.Ala42="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS693181"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1431,
          "referenceAllele": "A",
          "start": 1430
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001020",
      "geneNCBI_id": 617,
      "geneSymbol": "BCS1L",
      "hgvs": [
        "NM_001374086.1:c.-351A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001361015.1:n.-351A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS693182"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829530991",
      "coordinates": [
        {
          "allele": "G",
          "end": 445,
          "referenceAllele": "A",
          "start": 444
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001020",
      "geneNCBI_id": 617,
      "geneSymbol": "BCS1L",
      "hgvs": [
        "NM_004328.5:c.126A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_004319.1:p.Ala42="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS696107"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1138,
          "referenceAllele": "A",
          "start": 1137
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001020",
      "geneNCBI_id": 617,
      "geneSymbol": "BCS1L",
      "hgvs": [
        "NR_163955.1:n.1138A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS705640"
    }
  ],
  "type": "nucleotide"
}