{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA10079174",
  "communityStandardTitle": [
    "NM_006031.6(PCNT):c.3109G>A (p.Glu1037Lys)"
  ],
  "externalRecords": {
    "COSMIC": [
      {
        "@id": "http://cancer.sanger.ac.uk/cosmic/mutation/overview?id=1031633",
        "active": true,
        "id": "COSM1031633"
      }
    ],
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=3221334[alleleid]",
        "alleleId": 3221334,
        "preferredName": "NM_006031.6(PCNT):c.3109G>A (p.Glu1037Lys)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/3053914",
        "RCV": [
          "RCV003966845"
        ],
        "variationId": 3053914
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/21-47786998-G-A",
        "id": "21-47786998-G-A",
        "variant": "21:47786998 G / A"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr21:g.47786998G>A?assembly=hg19",
        "id": "chr21:g.47786998G>A"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr21:g.46367083G>A?assembly=hg38",
        "id": "chr21:g.46367083G>A"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/119479063",
        "rs": 119479063
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/21-47786998-G-A?dataset=gnomad_r2_1",
        "id": "21-47786998-G-A",
        "variant": "21:47786998 G / A"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/21-46367083-G-A?dataset=gnomad_r3",
        "id": "21-46367083-G-A",
        "variant": "21:46367083 G / A"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/21-46367083-G-A?dataset=gnomad_r4",
        "id": "21-46367083-G-A",
        "variant": "21:46367083 G / A"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "21",
      "coordinates": [
        {
          "allele": "A",
          "end": 46367083,
          "referenceAllele": "G",
          "start": 46367082
        }
      ],
      "hgvs": [
        "NC_000021.9:g.46367083G>A",
        "CM000683.2:g.46367083G>A"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000069"
    },
    {
      "chromosome": "21",
      "coordinates": [
        {
          "allele": "A",
          "end": 47786998,
          "referenceAllele": "G",
          "start": 47786997
        }
      ],
      "hgvs": [
        "NC_000021.8:g.47786998G>A",
        "CM000683.1:g.47786998G>A"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000045"
    },
    {
      "chromosome": "21",
      "coordinates": [
        {
          "allele": "A",
          "end": 46611426,
          "referenceAllele": "G",
          "start": 46611425
        }
      ],
      "hgvs": [
        "NC_000021.7:g.46611426G>A"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000021"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 47963,
          "referenceAllele": "G",
          "start": 47962
        }
      ],
      "hgvs": [
        "NG_008961.1:g.47963G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001332"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 47962,
          "referenceAllele": "G",
          "start": 47961
        }
      ],
      "hgvs": [
        "NG_008961.2:g.47962G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS673512"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3102,
          "referenceAllele": "G",
          "start": 3101
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016068",
      "geneNCBI_id": 5116,
      "geneSymbol": "PCNT",
      "hgvs": [
        "ENST00000466474.6:c.*1605G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000511987.1:n.*1605G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS905134"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3195,
          "referenceAllele": "G",
          "start": 3194
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016068",
      "geneNCBI_id": 5116,
      "geneSymbol": "PCNT",
      "hgvs": [
        "ENST00000695525.1:n.3195G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS907041"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3182,
          "referenceAllele": "G",
          "start": 3181
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016068",
      "geneNCBI_id": 5116,
      "geneSymbol": "PCNT",
      "hgvs": [
        "ENST00000695558.1:c.3109G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000512015.1:p.Glu1037Lys",
        "hgvsWellDefined": "ENSP00000512015.1:p.Glu1037Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS907073"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3355,
          "referenceAllele": "G",
          "start": 3354
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016068",
      "geneNCBI_id": 5116,
      "geneSymbol": "PCNT",
      "hgvs": [
        "ENST00000703224.1:c.*2352G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000515242.1:n.*2352G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS911630"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3182,
          "referenceAllele": "G",
          "start": 3181
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016068",
      "geneNCBI_id": 5116,
      "geneSymbol": "PCNT",
      "hgvs": [
        "ENST00000359568.10:c.3109G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000352572.5:p.Glu1037Lys",
        "hgvsWellDefined": "ENSP00000352572.5:p.Glu1037Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS749214",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000359568.10:c.3109G>A"
          },
          "RefSeq": {
            "hgvs": "NM_006031.6:c.3109G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000352572.5:p.Glu1037Lys"
          },
          "RefSeq": {
            "hgvs": "NP_006022.3:p.Glu1037Lys"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3216,
          "referenceAllele": "G",
          "start": 3215
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016068",
      "geneNCBI_id": 5116,
      "geneSymbol": "PCNT",
      "hgvs": [
        "ENST00000359568.9:c.3109G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000352572.5:p.Glu1037Lys",
        "hgvsWellDefined": "ENSP00000352572.5:p.Glu1037Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS264832"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3378,
          "referenceAllele": "G",
          "start": 3377
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016068",
      "geneNCBI_id": 5116,
      "geneSymbol": "PCNT",
      "hgvs": [
        "ENST00000480896.5:n.3378G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS320934"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2741858166",
      "coordinates": [
        {
          "allele": "A",
          "end": 3378,
          "referenceAllele": "G",
          "start": 3377
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016068",
      "geneNCBI_id": 5116,
      "geneSymbol": "PCNT",
      "hgvs": [
        "NM_001315529.1:c.2755G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001302458.1:p.Glu919Lys",
        "hgvsWellDefined": "NP_001302458.1:p.Glu919Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS026553"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829631717",
      "coordinates": [
        {
          "allele": "A",
          "end": 3216,
          "referenceAllele": "G",
          "start": 3215
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016068",
      "geneNCBI_id": 5116,
      "geneSymbol": "PCNT",
      "hgvs": [
        "NM_006031.5:c.3109G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_006022.3:p.Glu1037Lys",
        "hgvsWellDefined": "NP_006022.3:p.Glu1037Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS031075"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3237,
          "referenceAllele": "G",
          "start": 3236
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016068",
      "geneNCBI_id": 5116,
      "geneSymbol": "PCNT",
      "hgvs": [
        "XM_005261124.3:c.3109G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_005261181.1:p.Glu1037Lys",
        "hgvsWellDefined": "XP_005261181.1:p.Glu1037Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS063041"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3319,
          "referenceAllele": "G",
          "start": 3318
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016068",
      "geneNCBI_id": 5116,
      "geneSymbol": "PCNT",
      "hgvs": [
        "XM_011529593.1:c.3190G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011527895.1:p.Glu1064Lys",
        "hgvsWellDefined": "XP_011527895.1:p.Glu1064Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS096662"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3318,
          "referenceAllele": "G",
          "start": 3317
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016068",
      "geneNCBI_id": 5116,
      "geneSymbol": "PCNT",
      "hgvs": [
        "XM_011529594.1:c.3190G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011527896.1:p.Glu1064Lys",
        "hgvsWellDefined": "XP_011527896.1:p.Glu1064Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS096663"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3216,
          "referenceAllele": "G",
          "start": 3215
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016068",
      "geneNCBI_id": 5116,
      "geneSymbol": "PCNT",
      "hgvs": [
        "XM_005261124.5:c.3109G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_005261181.1:p.Glu1037Lys",
        "hgvsWellDefined": "XP_005261181.1:p.Glu1037Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS535288"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3297,
          "referenceAllele": "G",
          "start": 3296
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016068",
      "geneNCBI_id": 5116,
      "geneSymbol": "PCNT",
      "hgvs": [
        "XM_011529594.3:c.3190G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011527896.1:p.Glu1064Lys",
        "hgvsWellDefined": "XP_011527896.1:p.Glu1064Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS549570"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3216,
          "referenceAllele": "G",
          "start": 3215
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016068",
      "geneNCBI_id": 5116,
      "geneSymbol": "PCNT",
      "hgvs": [
        "XM_017028362.2:c.3109G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_016883851.1:p.Glu1037Lys",
        "hgvsWellDefined": "XP_016883851.1:p.Glu1037Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS578121"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3404,
          "referenceAllele": "G",
          "start": 3403
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016068",
      "geneNCBI_id": 5116,
      "geneSymbol": "PCNT",
      "hgvs": [
        "XM_017028363.1:c.2755G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_016883852.1:p.Glu919Lys",
        "hgvsWellDefined": "XP_016883852.1:p.Glu919Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS578122"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2297,
          "referenceAllele": "G",
          "start": 2296
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016068",
      "geneNCBI_id": 5116,
      "geneSymbol": "PCNT",
      "hgvs": [
        "XM_024452082.1:c.1993G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_024307850.1:p.Glu665Lys",
        "hgvsWellDefined": "XP_024307850.1:p.Glu665Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS585584"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3065,
          "referenceAllele": "G",
          "start": 3064
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016068",
      "geneNCBI_id": 5116,
      "geneSymbol": "PCNT",
      "hgvs": [
        "XM_024452083.1:c.889G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_024307851.1:p.Glu297Lys",
        "hgvsWellDefined": "XP_024307851.1:p.Glu297Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS585585"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829631717",
      "coordinates": [
        {
          "allele": "A",
          "end": 3182,
          "referenceAllele": "G",
          "start": 3181
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016068",
      "geneNCBI_id": 5116,
      "geneSymbol": "PCNT",
      "hgvs": [
        "NM_006031.6:c.3109G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_006022.3:p.Glu1037Lys",
        "hgvsWellDefined": "NP_006022.3:p.Glu1037Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS667259",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000359568.10:c.3109G>A"
          },
          "RefSeq": {
            "hgvs": "NM_006031.6:c.3109G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000352572.5:p.Glu1037Lys"
          },
          "RefSeq": {
            "hgvs": "NP_006022.3:p.Glu1037Lys"
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA2741858166",
      "coordinates": [
        {
          "allele": "A",
          "end": 3599,
          "referenceAllele": "G",
          "start": 3598
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016068",
      "geneNCBI_id": 5116,
      "geneSymbol": "PCNT",
      "hgvs": [
        "NM_001315529.2:c.2755G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001302458.1:p.Glu919Lys",
        "hgvsWellDefined": "NP_001302458.1:p.Glu919Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS684148"
    }
  ],
  "type": "nucleotide"
}