{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA1825496911",
  "communityStandardTitle": [
    "NM_000497.4(CYP11B1):c.953C= (p.Thr318=)"
  ],
  "externalRecords": {
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/104894061",
        "rs": 104894061
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "8",
      "coordinates": [
        {
          "allele": "G",
          "end": 142876242,
          "referenceAllele": "G",
          "start": 142876241
        }
      ],
      "hgvs": [
        "NC_000008.11:g.142876242G=",
        "CM000670.2:g.142876242G="
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000056"
    },
    {
      "chromosome": "8",
      "coordinates": [
        {
          "allele": "G",
          "end": 143957658,
          "referenceAllele": "G",
          "start": 143957657
        }
      ],
      "hgvs": [
        "NC_000008.10:g.143957658G=",
        "CM000670.1:g.143957658G="
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000032"
    },
    {
      "chromosome": "8",
      "coordinates": [
        {
          "allele": "G",
          "end": 143954660,
          "referenceAllele": "G",
          "start": 143954659
        }
      ],
      "hgvs": [
        "NC_000008.9:g.143954660G="
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000008"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 8579,
          "referenceAllele": "C",
          "start": 8578
        }
      ],
      "hgvs": [
        "NG_007954.1:g.8579C="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS000722"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 965,
          "referenceAllele": "C",
          "start": 964
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002591",
      "geneNCBI_id": 1584,
      "geneSymbol": "CYP11B1",
      "hgvs": [
        "ENST00000292427.10:c.953C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000292427.5:p.Thr318="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS744115",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000292427.10:c.953C="
          },
          "RefSeq": {
            "hgvs": "NM_000497.4:c.953C="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000292427.5:p.Thr318="
          },
          "RefSeq": {
            "hgvs": "NP_000488.3:p.Thr318="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 986,
          "referenceAllele": "C",
          "start": 985
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002591",
      "geneNCBI_id": 1584,
      "geneSymbol": "CYP11B1",
      "hgvs": [
        "ENST00000292427.8:c.953C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000292427.4:p.Thr318="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS253807"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 986,
          "referenceAllele": "C",
          "start": 985
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002591",
      "geneNCBI_id": 1584,
      "geneSymbol": "CYP11B1",
      "hgvs": [
        "ENST00000314111.4:n.986C="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS256901"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1173,
          "referenceAllele": "C",
          "start": 1172
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002591",
      "geneNCBI_id": 1584,
      "geneSymbol": "CYP11B1",
      "hgvs": [
        "ENST00000377675.3:c.1166C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000366903.3:p.Thr389="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS271686"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 964,
          "referenceAllele": "C",
          "start": 963
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002591",
      "geneNCBI_id": 1584,
      "geneSymbol": "CYP11B1",
      "hgvs": [
        "ENST00000517471.5:c.953C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000428043.1:p.Thr318="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS345146"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 246,
          "endIntronDirection": "+",
          "endIntronOffset": 35017,
          "referenceAllele": "G",
          "start": 246,
          "startIntronDirection": "+",
          "startIntronOffset": 35016
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004375",
      "geneNCBI_id": 2765,
      "geneSymbol": "GML",
      "hgvs": [
        "ENST00000522728.5:c.181+35017G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000430799.1:n.181+35017G="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS349279"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825201216",
      "coordinates": [
        {
          "allele": "C",
          "end": 960,
          "referenceAllele": "C",
          "start": 959
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002591",
      "geneNCBI_id": 1584,
      "geneSymbol": "CYP11B1",
      "hgvs": [
        "NM_000497.3:c.953C="
      ],
      "proteinEffect": {
        "hgvs": "NP_000488.3:p.Thr318="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006551"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825342544",
      "coordinates": [
        {
          "allele": "C",
          "end": 960,
          "referenceAllele": "C",
          "start": 959
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002591",
      "geneNCBI_id": 1584,
      "geneSymbol": "CYP11B1",
      "hgvs": [
        "NM_001026213.1:c.953C="
      ],
      "proteinEffect": {
        "hgvs": "NP_001021384.1:p.Thr318="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS008905"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1058,
          "referenceAllele": "C",
          "start": 1057
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002591",
      "geneNCBI_id": 1584,
      "geneSymbol": "CYP11B1",
      "hgvs": [
        "XM_011516870.1:c.1031C="
      ],
      "proteinEffect": {
        "hgvs": "XP_011515172.1:p.Thr344="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS084069"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1058,
          "referenceAllele": "C",
          "start": 1057
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002591",
      "geneNCBI_id": 1584,
      "geneSymbol": "CYP11B1",
      "hgvs": [
        "XM_011516871.1:c.1031C="
      ],
      "proteinEffect": {
        "hgvs": "XP_011515173.1:p.Thr344="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS084070"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 986,
          "referenceAllele": "C",
          "start": 985
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002591",
      "geneNCBI_id": 1584,
      "geneSymbol": "CYP11B1",
      "hgvs": [
        "XM_011516872.1:c.953C="
      ],
      "proteinEffect": {
        "hgvs": "XP_011515174.1:p.Thr318="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS084071"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1058,
          "referenceAllele": "C",
          "start": 1057
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002591",
      "geneNCBI_id": 1584,
      "geneSymbol": "CYP11B1",
      "hgvs": [
        "XM_011516873.1:c.1031C="
      ],
      "proteinEffect": {
        "hgvs": "XP_011515175.1:p.Thr344="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS084072"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1058,
          "referenceAllele": "C",
          "start": 1057
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002591",
      "geneNCBI_id": 1584,
      "geneSymbol": "CYP11B1",
      "hgvs": [
        "XM_011516874.1:c.1031C="
      ],
      "proteinEffect": {
        "hgvs": "XP_011515176.1:p.Thr344="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS084073"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 877,
          "referenceAllele": "C",
          "start": 876
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002591",
      "geneNCBI_id": 1584,
      "geneSymbol": "CYP11B1",
      "hgvs": [
        "XM_011516875.1:c.770C="
      ],
      "proteinEffect": {
        "hgvs": "XP_011515177.1:p.Thr257="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS084074"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1058,
          "referenceAllele": "C",
          "start": 1057
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002591",
      "geneNCBI_id": 1584,
      "geneSymbol": "CYP11B1",
      "hgvs": [
        "XM_011516876.1:c.1031C="
      ],
      "proteinEffect": {
        "hgvs": "XP_011515178.1:p.Thr344="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS084075"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 443,
          "endIntronDirection": "+",
          "endIntronOffset": 35017,
          "referenceAllele": "G",
          "start": 443,
          "startIntronDirection": "+",
          "startIntronOffset": 35016
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004375",
      "geneNCBI_id": 2765,
      "geneSymbol": "GML",
      "hgvs": [
        "XM_011516970.1:c.214+35017G="
      ],
      "proteinEffect": {
        "hgvs": "XP_011515272.1:n.214+35017G="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS084169"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825201216",
      "coordinates": [
        {
          "allele": "C",
          "end": 965,
          "referenceAllele": "C",
          "start": 964
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002591",
      "geneNCBI_id": 1584,
      "geneSymbol": "CYP11B1",
      "hgvs": [
        "NM_000497.4:c.953C="
      ],
      "proteinEffect": {
        "hgvs": "NP_000488.3:p.Thr318="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS674869",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000292427.10:c.953C="
          },
          "RefSeq": {
            "hgvs": "NM_000497.4:c.953C="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000292427.5:p.Thr318="
          },
          "RefSeq": {
            "hgvs": "NP_000488.3:p.Thr318="
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}