{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA4517394",
  "communityStandardTitle": [
    "NM_018238.4(AGK):c.327C>T (p.Leu109=)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=501872[alleleid]",
        "alleleId": 501872,
        "preferredName": "NM_018238.4(AGK):c.327C>T (p.Leu109=)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/512456",
        "RCV": [
          "RCV000877491",
          "RCV003767613"
        ],
        "variationId": 512456
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/7-141311024-C-T",
        "id": "7-141311024-C-T",
        "variant": "7:141311024 C / T"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr7:g.141311024C>T?assembly=hg19",
        "id": "chr7:g.141311024C>T"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr7:g.141611224C>T?assembly=hg38",
        "id": "chr7:g.141611224C>T"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/148971840",
        "rs": 148971840
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/7-141311024-C-T?dataset=gnomad_r2_1",
        "id": "7-141311024-C-T",
        "variant": "7:141311024 C / T"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/7-141611224-C-T?dataset=gnomad_r3",
        "id": "7-141611224-C-T",
        "variant": "7:141611224 C / T"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/7-141611224-C-T?dataset=gnomad_r4",
        "id": "7-141611224-C-T",
        "variant": "7:141611224 C / T"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "7",
      "coordinates": [
        {
          "allele": "T",
          "end": 141611224,
          "referenceAllele": "C",
          "start": 141611223
        }
      ],
      "hgvs": [
        "NC_000007.14:g.141611224C>T",
        "CM000669.2:g.141611224C>T"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000055"
    },
    {
      "chromosome": "7",
      "coordinates": [
        {
          "allele": "T",
          "end": 141311024,
          "referenceAllele": "C",
          "start": 141311023
        }
      ],
      "hgvs": [
        "NC_000007.13:g.141311024C>T",
        "CM000669.1:g.141311024C>T"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000031"
    },
    {
      "chromosome": "7",
      "coordinates": [
        {
          "allele": "T",
          "end": 140957493,
          "referenceAllele": "C",
          "start": 140957492
        }
      ],
      "hgvs": [
        "NC_000007.12:g.140957493C>T"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000007"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 64947,
          "referenceAllele": "C",
          "start": 64946
        }
      ],
      "hgvs": [
        "NG_032079.1:g.64947C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS005119"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 357,
          "referenceAllele": "C",
          "start": 356
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021869",
      "geneNCBI_id": 55750,
      "geneSymbol": "AGK",
      "hgvs": [
        "ENST00000647568.1:c.327C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000497039.1:p.Leu109="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS769489"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 217,
          "referenceAllele": "C",
          "start": 216
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021869",
      "geneNCBI_id": 55750,
      "geneSymbol": "AGK",
      "hgvs": [
        "ENST00000647898.1:n.217C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS769677"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 407,
          "referenceAllele": "C",
          "start": 406
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021869",
      "geneNCBI_id": 55750,
      "geneSymbol": "AGK",
      "hgvs": [
        "ENST00000648068.1:c.327C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000498112.1:p.Leu109="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS769773"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 294,
          "referenceAllele": "C",
          "start": 293
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021869",
      "geneNCBI_id": 55750,
      "geneSymbol": "AGK",
      "hgvs": [
        "ENST00000648395.1:c.51C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000497666.1:p.Leu17="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS769957"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 358,
          "referenceAllele": "C",
          "start": 357
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021869",
      "geneNCBI_id": 55750,
      "geneSymbol": "AGK",
      "hgvs": [
        "ENST00000648489.1:n.358C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS770015"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 251,
          "referenceAllele": "C",
          "start": 250
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021869",
      "geneNCBI_id": 55750,
      "geneSymbol": "AGK",
      "hgvs": [
        "ENST00000648690.1:c.51C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000497945.1:p.Leu17="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS770119"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 361,
          "referenceAllele": "C",
          "start": 360
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021869",
      "geneNCBI_id": 55750,
      "geneSymbol": "AGK",
      "hgvs": [
        "ENST00000649014.1:c.327C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000497984.1:p.Leu109="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS770306"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 366,
          "referenceAllele": "C",
          "start": 365
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021869",
      "geneNCBI_id": 55750,
      "geneSymbol": "AGK",
      "hgvs": [
        "ENST00000649286.2:c.327C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000497280.1:p.Leu109="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS770455",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000649286.2:c.327C>T"
          },
          "RefSeq": {
            "hgvs": "NM_018238.4:c.327C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000497280.1:p.Leu109="
          },
          "RefSeq": {
            "hgvs": "NP_060708.1:p.Leu109="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 627,
          "referenceAllele": "C",
          "start": 626
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021869",
      "geneNCBI_id": 55750,
      "geneSymbol": "AGK",
      "hgvs": [
        "ENST00000649365.1:c.*335C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000496835.1:n.*335C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS770495"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 355,
          "referenceAllele": "C",
          "start": 354
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021869",
      "geneNCBI_id": 55750,
      "geneSymbol": "AGK",
      "hgvs": [
        "ENST00000649538.1:n.355C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS770596"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 249,
          "referenceAllele": "C",
          "start": 248
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021869",
      "geneNCBI_id": 55750,
      "geneSymbol": "AGK",
      "hgvs": [
        "ENST00000649790.1:c.51C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000498193.1:p.Leu17="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS770753"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 571,
          "referenceAllele": "C",
          "start": 570
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021869",
      "geneNCBI_id": 55750,
      "geneSymbol": "AGK",
      "hgvs": [
        "ENST00000649914.1:c.315C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000497848.1:p.Leu105="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS770836"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 355,
          "referenceAllele": "C",
          "start": 354
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021869",
      "geneNCBI_id": 55750,
      "geneSymbol": "AGK",
      "hgvs": [
        "ENST00000650006.1:c.327C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000497457.1:p.Leu109="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS770887"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 395,
          "referenceAllele": "C",
          "start": 394
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021869",
      "geneNCBI_id": 55750,
      "geneSymbol": "AGK",
      "hgvs": [
        "ENST00000650365.1:c.*212C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000497358.1:n.*212C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS771078"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 396,
          "referenceAllele": "C",
          "start": 395
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021869",
      "geneNCBI_id": 55750,
      "geneSymbol": "AGK",
      "hgvs": [
        "ENST00000650547.1:c.327C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000496789.1:p.Leu109="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS771177"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 587,
          "referenceAllele": "C",
          "start": 586
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021869",
      "geneNCBI_id": 55750,
      "geneSymbol": "AGK",
      "hgvs": [
        "ENST00000355413.8:c.327C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000347581.4:p.Leu109="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS263421"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 338,
          "referenceAllele": "C",
          "start": 337
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021869",
      "geneNCBI_id": 55750,
      "geneSymbol": "AGK",
      "hgvs": [
        "ENST00000465241.5:n.338C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS308885"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 385,
          "referenceAllele": "C",
          "start": 384
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021869",
      "geneNCBI_id": 55750,
      "geneSymbol": "AGK",
      "hgvs": [
        "ENST00000473247.5:c.243C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000420776.1:p.Leu81="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS315043"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 318,
          "referenceAllele": "C",
          "start": 317
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021869",
      "geneNCBI_id": 55750,
      "geneSymbol": "AGK",
      "hgvs": [
        "ENST00000473884.5:c.*146C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000420540.1:n.*146C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS315523"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 332,
          "referenceAllele": "C",
          "start": 331
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021869",
      "geneNCBI_id": 55750,
      "geneSymbol": "AGK",
      "hgvs": [
        "ENST00000494688.1:c.318C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000418101.1:p.Leu106="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS331557"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 90,
          "referenceAllele": "C",
          "start": 89
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021869",
      "geneNCBI_id": 55750,
      "geneSymbol": "AGK",
      "hgvs": [
        "ENST00000496273.1:n.90C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS332787"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 489,
          "referenceAllele": "C",
          "start": 488
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021869",
      "geneNCBI_id": 55750,
      "geneSymbol": "AGK",
      "hgvs": [
        "ENST00000629555.2:c.318C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000487274.1:p.Leu106="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS407241"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829900956",
      "coordinates": [
        {
          "allele": "T",
          "end": 498,
          "referenceAllele": "C",
          "start": 497
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021869",
      "geneNCBI_id": 55750,
      "geneSymbol": "AGK",
      "hgvs": [
        "NM_018238.3:c.327C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_060708.1:p.Leu109="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS035571"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 394,
          "referenceAllele": "C",
          "start": 393
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021869",
      "geneNCBI_id": 55750,
      "geneSymbol": "AGK",
      "hgvs": [
        "XM_005250023.3:c.327C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005250080.1:p.Leu109="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS059038"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 964,
          "referenceAllele": "C",
          "start": 963
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021869",
      "geneNCBI_id": 55750,
      "geneSymbol": "AGK",
      "hgvs": [
        "XM_011516397.1:c.327C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011514699.1:p.Leu109="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS083599"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828160134",
      "coordinates": [
        {
          "allele": "T",
          "end": 366,
          "referenceAllele": "C",
          "start": 365
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021869",
      "geneNCBI_id": 55750,
      "geneSymbol": "AGK",
      "hgvs": [
        "NM_001364948.1:c.327C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001351877.1:p.Leu109="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS523983"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829900956",
      "coordinates": [
        {
          "allele": "T",
          "end": 366,
          "referenceAllele": "C",
          "start": 365
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021869",
      "geneNCBI_id": 55750,
      "geneSymbol": "AGK",
      "hgvs": [
        "NM_018238.4:c.327C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_060708.1:p.Leu109="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS525887",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000649286.2:c.327C>T"
          },
          "RefSeq": {
            "hgvs": "NM_018238.4:c.327C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000497280.1:p.Leu109="
          },
          "RefSeq": {
            "hgvs": "NP_060708.1:p.Leu109="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 964,
          "referenceAllele": "C",
          "start": 963
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021869",
      "geneNCBI_id": 55750,
      "geneSymbol": "AGK",
      "hgvs": [
        "XM_011516397.3:c.327C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011514699.1:p.Leu109="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS544148"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 518,
          "referenceAllele": "C",
          "start": 517
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021869",
      "geneNCBI_id": 55750,
      "geneSymbol": "AGK",
      "hgvs": [
        "XM_024446835.1:c.327C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_024302603.1:p.Leu109="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS580485"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828160134",
      "coordinates": [
        {
          "allele": "T",
          "end": 366,
          "referenceAllele": "C",
          "start": 365
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021869",
      "geneNCBI_id": 55750,
      "geneSymbol": "AGK",
      "hgvs": [
        "NM_001364948.2:c.327C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001351877.1:p.Leu109="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS690973"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828160134",
      "coordinates": [
        {
          "allele": "T",
          "end": 366,
          "referenceAllele": "C",
          "start": 365
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021869",
      "geneNCBI_id": 55750,
      "geneSymbol": "AGK",
      "hgvs": [
        "NM_001364948.3:c.327C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001351877.1:p.Leu109="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS720881"
    }
  ],
  "type": "nucleotide"
}