{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA8699543",
  "communityStandardTitle": [
    "NM_000789.4(ACE):c.1459C>T (p.Arg487Cys)"
  ],
  "externalRecords": {
    "COSMIC": [
      {
        "@id": "http://cancer.sanger.ac.uk/cosmic/mutation/overview?id=2794927",
        "active": true,
        "id": "COSM2794927"
      }
    ],
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=878069[alleleid]",
        "alleleId": 878069,
        "preferredName": "NM_000789.4(ACE):c.1459C>T (p.Arg487Cys)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/888834",
        "RCV": [
          "RCV001122411",
          "RCV003727875"
        ],
        "variationId": 888834
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/17-61560506-C-T",
        "id": "17-61560506-C-T",
        "variant": "17:61560506 C / T"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr17:g.61560506C>T?assembly=hg19",
        "id": "chr17:g.61560506C>T"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr17:g.63483145C>T?assembly=hg38",
        "id": "chr17:g.63483145C>T"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/149784122",
        "rs": 149784122
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/17-61560506-C-T?dataset=gnomad_r2_1",
        "id": "17-61560506-C-T",
        "variant": "17:61560506 C / T"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/17-63483145-C-T?dataset=gnomad_r3",
        "id": "17-63483145-C-T",
        "variant": "17:63483145 C / T"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/17-63483145-C-T?dataset=gnomad_r4",
        "id": "17-63483145-C-T",
        "variant": "17:63483145 C / T"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "17",
      "coordinates": [
        {
          "allele": "T",
          "end": 63483145,
          "referenceAllele": "C",
          "start": 63483144
        }
      ],
      "hgvs": [
        "NC_000017.11:g.63483145C>T",
        "CM000679.2:g.63483145C>T"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000065"
    },
    {
      "chromosome": "17",
      "coordinates": [
        {
          "allele": "T",
          "end": 61560506,
          "referenceAllele": "C",
          "start": 61560505
        }
      ],
      "hgvs": [
        "NC_000017.10:g.61560506C>T",
        "CM000679.1:g.61560506C>T"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000041"
    },
    {
      "chromosome": "17",
      "coordinates": [
        {
          "allele": "T",
          "end": 58914238,
          "referenceAllele": "C",
          "start": 58914237
        }
      ],
      "hgvs": [
        "NC_000017.9:g.58914238C>T"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000017"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 11073,
          "referenceAllele": "C",
          "start": 11072
        }
      ],
      "hgvs": [
        "NG_011648.1:g.11073C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001881"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1493,
          "referenceAllele": "C",
          "start": 1492
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002707",
      "geneNCBI_id": 1636,
      "geneSymbol": "ACE",
      "hgvs": [
        "ENST00000290866.10:c.1459C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000290866.4:p.Arg487Cys",
        "hgvsWellDefined": "ENSP00000290866.4:p.Arg487Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS744043",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000290866.10:c.1459C>T"
          },
          "RefSeq": {
            "hgvs": "NM_000789.4:c.1459C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000290866.4:p.Arg487Cys"
          },
          "RefSeq": {
            "hgvs": "NP_000780.1:p.Arg487Cys"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1483,
          "referenceAllele": "C",
          "start": 1482
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002707",
      "geneNCBI_id": 1636,
      "geneSymbol": "ACE",
      "hgvs": [
        "ENST00000290866.9:c.1459C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000290866.4:p.Arg487Cys",
        "hgvsWellDefined": "ENSP00000290866.4:p.Arg487Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS253689"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1493,
          "referenceAllele": "C",
          "start": 1492
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002707",
      "geneNCBI_id": 1636,
      "geneSymbol": "ACE",
      "hgvs": [
        "ENST00000428043.5:c.1459C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000397593.2:p.Arg487Cys",
        "hgvsWellDefined": "ENSP00000397593.2:p.Arg487Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS290004"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1399,
          "referenceAllele": "C",
          "start": 1398
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002707",
      "geneNCBI_id": 1636,
      "geneSymbol": "ACE",
      "hgvs": [
        "ENST00000582678.5:c.*858C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000462995.1:n.*858C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS387385"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1376,
          "endIntronDirection": "-",
          "endIntronOffset": 314,
          "referenceAllele": "C",
          "start": 1376,
          "startIntronDirection": "-",
          "startIntronOffset": 315
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002707",
      "geneNCBI_id": 1636,
      "geneSymbol": "ACE",
      "hgvs": [
        "ENST00000584529.5:n.1377-315C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS388267"
    },
    {
      "@id": "http://reg.genome.network/allele/PA1139681300",
      "coordinates": [
        {
          "allele": "T",
          "end": 1493,
          "referenceAllele": "C",
          "start": 1492
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002707",
      "geneNCBI_id": 1636,
      "geneSymbol": "ACE",
      "hgvs": [
        "NM_000789.3:c.1459C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_000780.1:p.Arg487Cys",
        "hgvsWellDefined": "NP_000780.1:p.Arg487Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006818"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1399,
          "referenceAllele": "C",
          "start": 1398
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002707",
      "geneNCBI_id": 1636,
      "geneSymbol": "ACE",
      "hgvs": [
        "XM_005257110.1:c.910C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005257167.1:p.Arg304Cys",
        "hgvsWellDefined": "XP_005257167.1:p.Arg304Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS061580"
    },
    {
      "@id": "http://reg.genome.network/allele/PA1139681300",
      "coordinates": [
        {
          "allele": "T",
          "end": 1493,
          "referenceAllele": "C",
          "start": 1492
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002707",
      "geneNCBI_id": 1636,
      "geneSymbol": "ACE",
      "hgvs": [
        "NM_000789.4:c.1459C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_000780.1:p.Arg487Cys",
        "hgvsWellDefined": "NP_000780.1:p.Arg487Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS662582",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000290866.10:c.1459C>T"
          },
          "RefSeq": {
            "hgvs": "NM_000789.4:c.1459C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000290866.4:p.Arg487Cys"
          },
          "RefSeq": {
            "hgvs": "NP_000780.1:p.Arg487Cys"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1161,
          "referenceAllele": "C",
          "start": 1160
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002707",
      "geneNCBI_id": 1636,
      "geneSymbol": "ACE",
      "hgvs": [
        "NM_001382700.1:c.892C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001369629.1:p.Arg298Cys",
        "hgvsWellDefined": "NP_001369629.1:p.Arg298Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS722543"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1255,
          "referenceAllele": "C",
          "start": 1254
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002707",
      "geneNCBI_id": 1636,
      "geneSymbol": "ACE",
      "hgvs": [
        "NM_001382701.1:c.607C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001369630.1:p.Arg203Cys",
        "hgvsWellDefined": "NP_001369630.1:p.Arg203Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS722544"
    }
  ],
  "type": "nucleotide"
}