{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA45506756",
  "communityStandardTitle": [
    "NM_000104.4(CYP1B1):c.1093G>C (p.Gly365Arg)"
  ],
  "externalRecords": {
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr2:g.38298404C>G?assembly=hg19",
        "id": "chr2:g.38298404C>G"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr2:g.38071261C>G?assembly=hg38",
        "id": "chr2:g.38071261C>G"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/55771538",
        "rs": 55771538
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "2",
      "coordinates": [
        {
          "allele": "G",
          "end": 38071261,
          "referenceAllele": "C",
          "start": 38071260
        }
      ],
      "hgvs": [
        "NC_000002.12:g.38071261C>G",
        "CM000664.2:g.38071261C>G"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000050"
    },
    {
      "chromosome": "2",
      "coordinates": [
        {
          "allele": "G",
          "end": 38298404,
          "referenceAllele": "C",
          "start": 38298403
        }
      ],
      "hgvs": [
        "NC_000002.11:g.38298404C>G",
        "CM000664.1:g.38298404C>G"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000026"
    },
    {
      "chromosome": "2",
      "coordinates": [
        {
          "allele": "G",
          "end": 38151908,
          "referenceAllele": "C",
          "start": 38151907
        }
      ],
      "hgvs": [
        "NC_000002.10:g.38151908C>G"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000002"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 9841,
          "referenceAllele": "G",
          "start": 9840
        }
      ],
      "hgvs": [
        "NG_008386.2:g.9841G>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001070"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1269,
          "referenceAllele": "G",
          "start": 1268
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002597",
      "geneNCBI_id": 1545,
      "geneSymbol": "CYP1B1",
      "hgvs": [
        "ENST00000490576.2:c.1093G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000478839.2:p.Gly365Arg",
        "hgvsWellDefined": "ENSP00000478839.2:p.Gly365Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914164"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1466,
          "referenceAllele": "G",
          "start": 1465
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002597",
      "geneNCBI_id": 1545,
      "geneSymbol": "CYP1B1",
      "hgvs": [
        "ENST00000610745.5:c.1093G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000478561.1:p.Gly365Arg",
        "hgvsWellDefined": "ENSP00000478561.1:p.Gly365Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS761798",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000610745.5:c.1093G>C"
          },
          "RefSeq": {
            "hgvs": "NM_000104.4:c.1093G>C"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000478561.1:p.Gly365Arg"
          },
          "RefSeq": {
            "hgvs": "NP_000095.2:p.Gly365Arg"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 471,
          "referenceAllele": "G",
          "start": 470
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002597",
      "geneNCBI_id": 1545,
      "geneSymbol": "CYP1B1",
      "hgvs": [
        "ENST00000492443.1:n.471G>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS329824"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 284,
          "referenceAllele": "G",
          "start": 283
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002597",
      "geneNCBI_id": 1545,
      "geneSymbol": "CYP1B1",
      "hgvs": [
        "ENST00000494864.1:c.-21G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000479876.1:n.-21G>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS331691"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1496,
          "referenceAllele": "G",
          "start": 1495
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002597",
      "geneNCBI_id": 1545,
      "geneSymbol": "CYP1B1",
      "hgvs": [
        "ENST00000610745.4:c.1093G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000478561.1:p.Gly365Arg",
        "hgvsWellDefined": "ENSP00000478561.1:p.Gly365Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS400554"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 488,
          "referenceAllele": "G",
          "start": 487
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002597",
      "geneNCBI_id": 1545,
      "geneSymbol": "CYP1B1",
      "hgvs": [
        "ENST00000613082.1:n.488G>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS401593"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1395,
          "referenceAllele": "G",
          "start": 1394
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002597",
      "geneNCBI_id": 1545,
      "geneSymbol": "CYP1B1",
      "hgvs": [
        "ENST00000614273.1:c.1093G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000483678.1:p.Gly365Arg",
        "hgvsWellDefined": "ENSP00000483678.1:p.Gly365Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS402114"
    },
    {
      "@id": "http://reg.genome.network/allele/PA3057313041",
      "coordinates": [
        {
          "allele": "C",
          "end": 1496,
          "referenceAllele": "G",
          "start": 1495
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002597",
      "geneNCBI_id": 1545,
      "geneSymbol": "CYP1B1",
      "hgvs": [
        "NM_000104.3:c.1093G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_000095.2:p.Gly365Arg",
        "hgvsWellDefined": "NP_000095.2:p.Gly365Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006168"
    },
    {
      "@id": "http://reg.genome.network/allele/PA3057313041",
      "coordinates": [
        {
          "allele": "C",
          "end": 1466,
          "referenceAllele": "G",
          "start": 1465
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002597",
      "geneNCBI_id": 1545,
      "geneSymbol": "CYP1B1",
      "hgvs": [
        "NM_000104.4:c.1093G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_000095.2:p.Gly365Arg",
        "hgvsWellDefined": "NP_000095.2:p.Gly365Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS710800",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000610745.5:c.1093G>C"
          },
          "RefSeq": {
            "hgvs": "NM_000104.4:c.1093G>C"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000478561.1:p.Gly365Arg"
          },
          "RefSeq": {
            "hgvs": "NP_000095.2:p.Gly365Arg"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}