{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA1417759931",
  "communityStandardTitle": [
    "NM_000055.4(BCHE):c.990G= (p.Met330=)"
  ],
  "externalRecords": {
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/762936157",
        "rs": 762936157
      },
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/1714894343",
        "rs": 1714894343
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "3",
      "coordinates": [
        {
          "allele": "C",
          "end": 165830044,
          "referenceAllele": "C",
          "start": 165830043
        }
      ],
      "hgvs": [
        "NC_000003.12:g.165830044C=",
        "CM000665.2:g.165830044C="
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000051"
    },
    {
      "chromosome": "3",
      "coordinates": [
        {
          "allele": "C",
          "end": 165547832,
          "referenceAllele": "C",
          "start": 165547831
        }
      ],
      "hgvs": [
        "NC_000003.11:g.165547832C=",
        "CM000665.1:g.165547832C="
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000027"
    },
    {
      "chromosome": "3",
      "coordinates": [
        {
          "allele": "C",
          "end": 167030526,
          "referenceAllele": "C",
          "start": 167030525
        }
      ],
      "hgvs": [
        "NC_000003.10:g.167030526C="
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000003"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 12422,
          "referenceAllele": "G",
          "start": 12421
        }
      ],
      "hgvs": [
        "NG_009031.1:g.12422G="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001391"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1108,
          "referenceAllele": "G",
          "start": 1107
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000983",
      "geneNCBI_id": 590,
      "geneSymbol": "BCHE",
      "hgvs": [
        "ENST00000264381.8:c.990G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000264381.3:p.Met330="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS742667",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000264381.8:c.990G="
          },
          "RefSeq": {
            "hgvs": "NM_000055.4:c.990G="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000264381.3:p.Met330="
          },
          "RefSeq": {
            "hgvs": "NP_000046.1:p.Met330="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1157,
          "referenceAllele": "G",
          "start": 1156
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000983",
      "geneNCBI_id": 590,
      "geneSymbol": "BCHE",
      "hgvs": [
        "ENST00000264381.7:c.990G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000264381.3:p.Met330="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS251491"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 107,
          "endIntronDirection": "+",
          "endIntronOffset": 7270,
          "referenceAllele": "G",
          "start": 107,
          "startIntronDirection": "+",
          "startIntronOffset": 7269
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000983",
      "geneNCBI_id": 590,
      "geneSymbol": "BCHE",
      "hgvs": [
        "ENST00000479451.5:c.107+7270G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000418325.1:n.107+7270G="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS319828"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1147,
          "referenceAllele": "G",
          "start": 1146
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000983",
      "geneNCBI_id": 590,
      "geneSymbol": "BCHE",
      "hgvs": [
        "ENST00000482958.1:c.990G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000419804.1:p.Met330="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS322538"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 107,
          "endIntronDirection": "+",
          "endIntronOffset": 7270,
          "referenceAllele": "G",
          "start": 107,
          "startIntronDirection": "+",
          "startIntronOffset": 7269
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000983",
      "geneNCBI_id": 590,
      "geneSymbol": "BCHE",
      "hgvs": [
        "ENST00000488954.1:c.107+7270G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000418504.1:n.107+7270G="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS327115"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1147,
          "referenceAllele": "G",
          "start": 1146
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000983",
      "geneNCBI_id": 590,
      "geneSymbol": "BCHE",
      "hgvs": [
        "ENST00000497011.5:c.990G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000419505.1:p.Met330="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS333345"
    },
    {
      "@id": "http://reg.genome.network/allele/PA3068719843",
      "coordinates": [
        {
          "allele": "G",
          "end": 1150,
          "referenceAllele": "G",
          "start": 1149
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000983",
      "geneNCBI_id": 590,
      "geneSymbol": "BCHE",
      "hgvs": [
        "NM_000055.2:c.990G="
      ],
      "proteinEffect": {
        "hgvs": "NP_000046.1:p.Met330="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006120"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1157,
          "referenceAllele": "G",
          "start": 1156
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000983",
      "geneNCBI_id": 590,
      "geneSymbol": "BCHE",
      "hgvs": [
        "XM_005247685.1:c.1113G="
      ],
      "proteinEffect": {
        "hgvs": "XP_005247742.1:p.Met371="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS058152"
    },
    {
      "@id": "http://reg.genome.network/allele/PA3068719843",
      "coordinates": [
        {
          "allele": "G",
          "end": 1157,
          "referenceAllele": "G",
          "start": 1156
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000983",
      "geneNCBI_id": 590,
      "geneSymbol": "BCHE",
      "hgvs": [
        "NM_000055.3:c.990G="
      ],
      "proteinEffect": {
        "hgvs": "NP_000046.1:p.Met330="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS510746"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 159,
          "endIntronDirection": "+",
          "endIntronOffset": 7270,
          "referenceAllele": "G",
          "start": 159,
          "startIntronDirection": "+",
          "startIntronOffset": 7269
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000983",
      "geneNCBI_id": 590,
      "geneSymbol": "BCHE",
      "hgvs": [
        "NR_137635.1:n.159+7270G="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS529096"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1157,
          "referenceAllele": "G",
          "start": 1156
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000983",
      "geneNCBI_id": 590,
      "geneSymbol": "BCHE",
      "hgvs": [
        "NR_137636.1:n.1157G="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS529097"
    },
    {
      "@id": "http://reg.genome.network/allele/PA3068719843",
      "coordinates": [
        {
          "allele": "G",
          "end": 1108,
          "referenceAllele": "G",
          "start": 1107
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000983",
      "geneNCBI_id": 590,
      "geneSymbol": "BCHE",
      "hgvs": [
        "NM_000055.4:c.990G="
      ],
      "proteinEffect": {
        "hgvs": "NP_000046.1:p.Met330="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS662303",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000264381.8:c.990G="
          },
          "RefSeq": {
            "hgvs": "NM_000055.4:c.990G="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000264381.3:p.Met330="
          },
          "RefSeq": {
            "hgvs": "NP_000046.1:p.Met330="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 110,
          "endIntronDirection": "+",
          "endIntronOffset": 7270,
          "referenceAllele": "G",
          "start": 110,
          "startIntronDirection": "+",
          "startIntronOffset": 7269
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000983",
      "geneNCBI_id": 590,
      "geneSymbol": "BCHE",
      "hgvs": [
        "NR_137635.2:n.110+7270G="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS703980"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1108,
          "referenceAllele": "G",
          "start": 1107
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000983",
      "geneNCBI_id": 590,
      "geneSymbol": "BCHE",
      "hgvs": [
        "NR_137636.2:n.1108G="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS703981"
    }
  ],
  "type": "nucleotide"
}