{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA1825496579",
  "communityStandardTitle": [
    "NM_000497.4(CYP11B1):c.1103C= (p.Ala368=)"
  ],
  "externalRecords": {
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/104894071",
        "rs": 104894071
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "8",
      "coordinates": [
        {
          "allele": "G",
          "end": 142875730,
          "referenceAllele": "G",
          "start": 142875729
        }
      ],
      "hgvs": [
        "NC_000008.11:g.142875730G=",
        "CM000670.2:g.142875730G="
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000056"
    },
    {
      "chromosome": "8",
      "coordinates": [
        {
          "allele": "G",
          "end": 143957146,
          "referenceAllele": "G",
          "start": 143957145
        }
      ],
      "hgvs": [
        "NC_000008.10:g.143957146G=",
        "CM000670.1:g.143957146G="
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000032"
    },
    {
      "chromosome": "8",
      "coordinates": [
        {
          "allele": "G",
          "end": 143954148,
          "referenceAllele": "G",
          "start": 143954147
        }
      ],
      "hgvs": [
        "NC_000008.9:g.143954148G="
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000008"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 9091,
          "referenceAllele": "C",
          "start": 9090
        }
      ],
      "hgvs": [
        "NG_007954.1:g.9091C="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS000722"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1115,
          "referenceAllele": "C",
          "start": 1114
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002591",
      "geneNCBI_id": 1584,
      "geneSymbol": "CYP11B1",
      "hgvs": [
        "ENST00000292427.10:c.1103C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000292427.5:p.Ala368="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS744115",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000292427.10:c.1103C="
          },
          "RefSeq": {
            "hgvs": "NM_000497.4:c.1103C="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000292427.5:p.Ala368="
          },
          "RefSeq": {
            "hgvs": "NP_000488.3:p.Ala368="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1136,
          "referenceAllele": "C",
          "start": 1135
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002591",
      "geneNCBI_id": 1584,
      "geneSymbol": "CYP11B1",
      "hgvs": [
        "ENST00000292427.8:c.1103C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000292427.4:p.Ala368="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS253807"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1498,
          "referenceAllele": "C",
          "start": 1497
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002591",
      "geneNCBI_id": 1584,
      "geneSymbol": "CYP11B1",
      "hgvs": [
        "ENST00000314111.4:n.1498C="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS256901"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1323,
          "referenceAllele": "C",
          "start": 1322
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002591",
      "geneNCBI_id": 1584,
      "geneSymbol": "CYP11B1",
      "hgvs": [
        "ENST00000377675.3:c.1316C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000366903.3:p.Ala439="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS271686"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1114,
          "referenceAllele": "C",
          "start": 1113
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002591",
      "geneNCBI_id": 1584,
      "geneSymbol": "CYP11B1",
      "hgvs": [
        "ENST00000517471.5:c.1103C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000428043.1:p.Ala368="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS345146"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 68,
          "referenceAllele": "C",
          "start": 67
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002591",
      "geneNCBI_id": 1584,
      "geneSymbol": "CYP11B1",
      "hgvs": [
        "ENST00000519285.5:c.68C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000430144.1:p.Ala23="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS346553"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 246,
          "endIntronDirection": "+",
          "endIntronOffset": 34505,
          "referenceAllele": "G",
          "start": 246,
          "startIntronDirection": "+",
          "startIntronOffset": 34504
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004375",
      "geneNCBI_id": 2765,
      "geneSymbol": "GML",
      "hgvs": [
        "ENST00000522728.5:c.181+34505G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000430799.1:n.181+34505G="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS349279"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825201275",
      "coordinates": [
        {
          "allele": "C",
          "end": 1110,
          "referenceAllele": "C",
          "start": 1109
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002591",
      "geneNCBI_id": 1584,
      "geneSymbol": "CYP11B1",
      "hgvs": [
        "NM_000497.3:c.1103C="
      ],
      "proteinEffect": {
        "hgvs": "NP_000488.3:p.Ala368="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006551"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825342574",
      "coordinates": [
        {
          "allele": "C",
          "end": 1110,
          "referenceAllele": "C",
          "start": 1109
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002591",
      "geneNCBI_id": 1584,
      "geneSymbol": "CYP11B1",
      "hgvs": [
        "NM_001026213.1:c.1103C="
      ],
      "proteinEffect": {
        "hgvs": "NP_001021384.1:p.Ala368="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS008905"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1208,
          "referenceAllele": "C",
          "start": 1207
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002591",
      "geneNCBI_id": 1584,
      "geneSymbol": "CYP11B1",
      "hgvs": [
        "XM_011516870.1:c.1181C="
      ],
      "proteinEffect": {
        "hgvs": "XP_011515172.1:p.Ala394="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS084069"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1208,
          "referenceAllele": "C",
          "start": 1207
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002591",
      "geneNCBI_id": 1584,
      "geneSymbol": "CYP11B1",
      "hgvs": [
        "XM_011516871.1:c.1181C="
      ],
      "proteinEffect": {
        "hgvs": "XP_011515173.1:p.Ala394="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS084070"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1136,
          "referenceAllele": "C",
          "start": 1135
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002591",
      "geneNCBI_id": 1584,
      "geneSymbol": "CYP11B1",
      "hgvs": [
        "XM_011516872.1:c.1103C="
      ],
      "proteinEffect": {
        "hgvs": "XP_011515174.1:p.Ala368="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS084071"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1208,
          "referenceAllele": "C",
          "start": 1207
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002591",
      "geneNCBI_id": 1584,
      "geneSymbol": "CYP11B1",
      "hgvs": [
        "XM_011516873.1:c.1181C="
      ],
      "proteinEffect": {
        "hgvs": "XP_011515175.1:p.Ala394="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS084072"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1208,
          "referenceAllele": "C",
          "start": 1207
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002591",
      "geneNCBI_id": 1584,
      "geneSymbol": "CYP11B1",
      "hgvs": [
        "XM_011516874.1:c.1181C="
      ],
      "proteinEffect": {
        "hgvs": "XP_011515176.1:p.Ala394="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS084073"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1027,
          "referenceAllele": "C",
          "start": 1026
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002591",
      "geneNCBI_id": 1584,
      "geneSymbol": "CYP11B1",
      "hgvs": [
        "XM_011516875.1:c.920C="
      ],
      "proteinEffect": {
        "hgvs": "XP_011515177.1:p.Ala307="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS084074"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1208,
          "referenceAllele": "C",
          "start": 1207
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002591",
      "geneNCBI_id": 1584,
      "geneSymbol": "CYP11B1",
      "hgvs": [
        "XM_011516876.1:c.1181C="
      ],
      "proteinEffect": {
        "hgvs": "XP_011515178.1:p.Ala394="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS084075"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 443,
          "endIntronDirection": "+",
          "endIntronOffset": 34505,
          "referenceAllele": "G",
          "start": 443,
          "startIntronDirection": "+",
          "startIntronOffset": 34504
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004375",
      "geneNCBI_id": 2765,
      "geneSymbol": "GML",
      "hgvs": [
        "XM_011516970.1:c.214+34505G="
      ],
      "proteinEffect": {
        "hgvs": "XP_011515272.1:n.214+34505G="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS084169"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825201275",
      "coordinates": [
        {
          "allele": "C",
          "end": 1115,
          "referenceAllele": "C",
          "start": 1114
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002591",
      "geneNCBI_id": 1584,
      "geneSymbol": "CYP11B1",
      "hgvs": [
        "NM_000497.4:c.1103C="
      ],
      "proteinEffect": {
        "hgvs": "NP_000488.3:p.Ala368="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS674869",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000292427.10:c.1103C="
          },
          "RefSeq": {
            "hgvs": "NM_000497.4:c.1103C="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000292427.5:p.Ala368="
          },
          "RefSeq": {
            "hgvs": "NP_000488.3:p.Ala368="
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}