{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA340009",
  "communityStandardTitle": [
    "NM_024312.5(GNPTAB):c.3565C>T (p.Arg1189Ter)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=17803[alleleid]",
        "alleleId": 17803,
        "preferredName": "NM_024312.5(GNPTAB):c.3565C>T (p.Arg1189Ter)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/2764",
        "RCV": [
          "RCV000002891",
          "RCV000002892",
          "RCV000664622",
          "RCV000723447",
          "RCV001193438",
          "RCV003398424"
        ],
        "variationId": 2764
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/12-102147187-G-A",
        "id": "12-102147187-G-A",
        "variant": "12:102147187 G / A"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr12:g.102147187G>A?assembly=hg19",
        "id": "chr12:g.102147187G>A"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr12:g.101753409G>A?assembly=hg38",
        "id": "chr12:g.101753409G>A"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/137852897",
        "rs": 137852897
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/12-102147187-G-A?dataset=gnomad_r2_1",
        "id": "12-102147187-G-A",
        "variant": "12:102147187 G / A"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/12-101753409-G-A?dataset=gnomad_r3",
        "id": "12-101753409-G-A",
        "variant": "12:101753409 G / A"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/12-101753409-G-A?dataset=gnomad_r4",
        "id": "12-101753409-G-A",
        "variant": "12:101753409 G / A"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "12",
      "coordinates": [
        {
          "allele": "A",
          "end": 101753409,
          "referenceAllele": "G",
          "start": 101753408
        }
      ],
      "hgvs": [
        "NC_000012.12:g.101753409G>A",
        "CM000674.2:g.101753409G>A"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000060"
    },
    {
      "chromosome": "12",
      "coordinates": [
        {
          "allele": "A",
          "end": 102147187,
          "referenceAllele": "G",
          "start": 102147186
        }
      ],
      "hgvs": [
        "NC_000012.11:g.102147187G>A",
        "CM000674.1:g.102147187G>A"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000036"
    },
    {
      "chromosome": "12",
      "coordinates": [
        {
          "allele": "A",
          "end": 100671318,
          "referenceAllele": "G",
          "start": 100671317
        }
      ],
      "hgvs": [
        "NC_000012.10:g.100671318G>A"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000012"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 82459,
          "referenceAllele": "C",
          "start": 82458
        }
      ],
      "hgvs": [
        "NG_021243.1:g.82459C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS003506"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3849,
          "referenceAllele": "C",
          "start": 3848
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029670",
      "geneNCBI_id": 79158,
      "geneSymbol": "GNPTAB",
      "hgvs": [
        "ENST00000299314.12:c.3565C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000299314.7:p.Arg1189Ter",
        "hgvsWellDefined": "ENSP00000299314.7:p.Arg1189_Val1256delinsAsnArgPheLeuHisMetHisGluLeuGlnGluTrpArgAlaTyrArgAspLysLeuLysPheTrpThrHisCysValLeuAlaThrLeuIleMetPheThrIlePheSerPhePheAlaGluGlnLeuIleAlaLeuLysArgLysIlePheProArgArgArgIleHisLysGluAlaSerProAsnArgIleArgValTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS744661",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000299314.12:c.3565C>T"
          },
          "RefSeq": {
            "hgvs": "NM_024312.5:c.3565C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000299314.7:p.Arg1189Ter"
          },
          "RefSeq": {
            "hgvs": "NP_077288.2:p.Arg1189Ter"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3828,
          "referenceAllele": "C",
          "start": 3827
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029670",
      "geneNCBI_id": 79158,
      "geneSymbol": "GNPTAB",
      "hgvs": [
        "ENST00000299314.11:c.3565C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000299314.7:p.Arg1189Ter",
        "hgvsWellDefined": "ENSP00000299314.7:p.Arg1189_Val1256delinsAsnArgPheLeuHisMetHisGluLeuGlnGluTrpArgAlaTyrArgAspLysLeuLysPheTrpThrHisCysValLeuAlaThrLeuIleMetPheThrIlePheSerPhePheAlaGluGlnLeuIleAlaLeuLysArgLysIlePheProArgArgArgIleHisLysGluAlaSerProAsnArgIleArgValTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS254703"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 463,
          "referenceAllele": "C",
          "start": 462
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029670",
      "geneNCBI_id": 79158,
      "geneSymbol": "GNPTAB",
      "hgvs": [
        "ENST00000549738.5:c.463C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000450161.1:n.463C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS367641"
    },
    {
      "@id": "http://reg.genome.network/allele/PA340010",
      "coordinates": [
        {
          "allele": "T",
          "end": 3757,
          "referenceAllele": "C",
          "start": 3756
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029670",
      "geneNCBI_id": 79158,
      "geneSymbol": "GNPTAB",
      "hgvs": [
        "NM_024312.4:c.3565C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_077288.2:p.Arg1189Ter",
        "hgvsWellDefined": "NP_077288.2:p.Arg1189_Val1256delinsAsnArgPheLeuHisMetHisGluLeuGlnGluTrpArgAlaTyrArgAspLysLeuLysPheTrpThrHisCysValLeuAlaThrLeuIleMetPheThrIlePheSerPhePheAlaGluGlnLeuIleAlaLeuLysArgLysIlePheProArgArgArgIleHisLysGluAlaSerProAsnArgIleArgValTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS037723"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 4298,
          "referenceAllele": "C",
          "start": 4297
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029670",
      "geneNCBI_id": 79158,
      "geneSymbol": "GNPTAB",
      "hgvs": [
        "XM_011538731.1:c.3484C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011537033.1:p.Arg1162Ter",
        "hgvsWellDefined": "XP_011537033.1:p.Arg1162_Val1229delinsAsnArgPheLeuHisMetHisGluLeuGlnGluTrpArgAlaTyrArgAspLysLeuLysPheTrpThrHisCysValLeuAlaThrLeuIleMetPheThrIlePheSerPhePheAlaGluGlnLeuIleAlaLeuLysArgLysIlePheProArgArgArgIleHisLysGluAlaSerProAsnArgIleArgValTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS105685"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3753,
          "referenceAllele": "C",
          "start": 3752
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029670",
      "geneNCBI_id": 79158,
      "geneSymbol": "GNPTAB",
      "hgvs": [
        "XM_011538731.2:c.3484C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011537033.1:p.Arg1162Ter",
        "hgvsWellDefined": "XP_011537033.1:p.Arg1162_Val1229delinsAsnArgPheLeuHisMetHisGluLeuGlnGluTrpArgAlaTyrArgAspLysLeuLysPheTrpThrHisCysValLeuAlaThrLeuIleMetPheThrIlePheSerPhePheAlaGluGlnLeuIleAlaLeuLysArgLysIlePheProArgArgArgIleHisLysGluAlaSerProAsnArgIleArgValTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS553386"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3654,
          "referenceAllele": "C",
          "start": 3653
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029670",
      "geneNCBI_id": 79158,
      "geneSymbol": "GNPTAB",
      "hgvs": [
        "XM_017019961.1:c.3349C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_016875450.1:p.Arg1117Ter",
        "hgvsWellDefined": "XP_016875450.1:p.Arg1117_Val1184delinsAsnArgPheLeuHisMetHisGluLeuGlnGluTrpArgAlaTyrArgAspLysLeuLysPheTrpThrHisCysValLeuAlaThrLeuIleMetPheThrIlePheSerPhePheAlaGluGlnLeuIleAlaLeuLysArgLysIlePheProArgArgArgIleHisLysGluAlaSerProAsnArgIleArgValTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS571537"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3831,
          "referenceAllele": "C",
          "start": 3830
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029670",
      "geneNCBI_id": 79158,
      "geneSymbol": "GNPTAB",
      "hgvs": [
        "XM_017019962.2:c.2338C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_016875451.1:p.Arg780Ter",
        "hgvsWellDefined": "XP_016875451.1:p.Arg780_Val847delinsAsnArgPheLeuHisMetHisGluLeuGlnGluTrpArgAlaTyrArgAspLysLeuLysPheTrpThrHisCysValLeuAlaThrLeuIleMetPheThrIlePheSerPhePheAlaGluGlnLeuIleAlaLeuLysArgLysIlePheProArgArgArgIleHisLysGluAlaSerProAsnArgIleArgValTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS571538"
    },
    {
      "@id": "http://reg.genome.network/allele/PA340010",
      "coordinates": [
        {
          "allele": "T",
          "end": 3849,
          "referenceAllele": "C",
          "start": 3848
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029670",
      "geneNCBI_id": 79158,
      "geneSymbol": "GNPTAB",
      "hgvs": [
        "NM_024312.5:c.3565C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_077288.2:p.Arg1189Ter",
        "hgvsWellDefined": "NP_077288.2:p.Arg1189_Val1256delinsAsnArgPheLeuHisMetHisGluLeuGlnGluTrpArgAlaTyrArgAspLysLeuLysPheTrpThrHisCysValLeuAlaThrLeuIleMetPheThrIlePheSerPhePheAlaGluGlnLeuIleAlaLeuLysArgLysIlePheProArgArgArgIleHisLysGluAlaSerProAsnArgIleArgValTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS670629",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000299314.12:c.3565C>T"
          },
          "RefSeq": {
            "hgvs": "NM_024312.5:c.3565C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000299314.7:p.Arg1189Ter"
          },
          "RefSeq": {
            "hgvs": "NP_077288.2:p.Arg1189Ter"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}