{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA374952114",
  "communityStandardTitle": [
    "NM_000476.3(AK1):c.118G>C (p.Gly40Arg)"
  ],
  "externalRecords": {
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr9:g.130635058C>G?assembly=hg19",
        "id": "chr9:g.130635058C>G"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr9:g.127872779C>G?assembly=hg38",
        "id": "chr9:g.127872779C>G"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "9",
      "coordinates": [
        {
          "allele": "G",
          "end": 127872779,
          "referenceAllele": "C",
          "start": 127872778
        }
      ],
      "hgvs": [
        "NC_000009.12:g.127872779C>G",
        "CM000671.2:g.127872779C>G"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000057"
    },
    {
      "chromosome": "9",
      "coordinates": [
        {
          "allele": "G",
          "end": 130635058,
          "referenceAllele": "C",
          "start": 130635057
        }
      ],
      "hgvs": [
        "NC_000009.11:g.130635058C>G",
        "CM000671.1:g.130635058C>G"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000033"
    },
    {
      "chromosome": "9",
      "coordinates": [
        {
          "allele": "G",
          "end": 129674879,
          "referenceAllele": "C",
          "start": 129674878
        }
      ],
      "hgvs": [
        "NC_000009.10:g.129674879C>G"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000009"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 9965,
          "referenceAllele": "G",
          "start": 9964
        }
      ],
      "hgvs": [
        "NG_011792.1:g.9965G>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001974"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 9965,
          "referenceAllele": "G",
          "start": 9964
        }
      ],
      "hgvs": [
        "NG_011792.2:g.9965G>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS733333"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 618,
          "referenceAllele": "G",
          "start": 617
        }
      ],
      "hgvs": [
        "ENST00000476274.7:n.618G>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS757183"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 397,
          "referenceAllele": "G",
          "start": 396
        }
      ],
      "hgvs": [
        "ENST00000548587.1:n.397G>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS759906"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2953,
          "referenceAllele": "G",
          "start": 2952
        }
      ],
      "hgvs": [
        "ENST00000643029.1:c.*1793G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000496586.1:n.*1793G>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS767050"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2795,
          "referenceAllele": "G",
          "start": 2794
        }
      ],
      "hgvs": [
        "ENST00000643338.1:c.*1682G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000495890.1:n.*1682G>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS767223"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 203,
          "referenceAllele": "G",
          "start": 202
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000361",
      "geneNCBI_id": 203,
      "geneSymbol": "AK1",
      "hgvs": [
        "ENST00000644144.2:c.118G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000494600.1:p.Gly40Arg",
        "hgvsWellDefined": "ENSP00000494600.1:p.Gly40Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS767658",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000644144.2:c.118G>C"
          },
          "RefSeq": {
            "hgvs": "NM_000476.3:c.118G>C"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000494600.1:p.Gly40Arg"
          },
          "RefSeq": {
            "hgvs": "NP_000467.1:p.Gly40Arg"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2858,
          "referenceAllele": "G",
          "start": 2857
        }
      ],
      "hgvs": [
        "ENST00000645007.1:c.*2042G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000494773.1:n.*2042G>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS768118"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1336,
          "referenceAllele": "G",
          "start": 1335
        }
      ],
      "hgvs": [
        "ENST00000646171.1:c.*151G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000495484.1:n.*151G>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS768737"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 262,
          "referenceAllele": "G",
          "start": 261
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000361",
      "geneNCBI_id": 203,
      "geneSymbol": "AK1",
      "hgvs": [
        "ENST00000223836.10:c.166G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000223836.10:p.Gly56Arg",
        "hgvsWellDefined": "ENSP00000223836.10:p.Gly56Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS248459"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 281,
          "referenceAllele": "G",
          "start": 280
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000361",
      "geneNCBI_id": 203,
      "geneSymbol": "AK1",
      "hgvs": [
        "ENST00000373156.5:c.118G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000362249.1:p.Gly40Arg",
        "hgvsWellDefined": "ENSP00000362249.1:p.Gly40Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS269531"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 271,
          "referenceAllele": "G",
          "start": 270
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000361",
      "geneNCBI_id": 203,
      "geneSymbol": "AK1",
      "hgvs": [
        "ENST00000373176.5:c.118G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000362271.1:p.Gly40Arg",
        "hgvsWellDefined": "ENSP00000362271.1:p.Gly40Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS269542"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 29,
          "endIntronDirection": "+",
          "endIntronOffset": 247,
          "referenceAllele": "G",
          "start": 29,
          "startIntronDirection": "+",
          "startIntronOffset": 246
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000361",
      "geneNCBI_id": 203,
      "geneSymbol": "AK1",
      "hgvs": [
        "ENST00000413016.5:c.29+247G>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS282870"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 318,
          "referenceAllele": "G",
          "start": 317
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000361",
      "geneNCBI_id": 203,
      "geneSymbol": "AK1",
      "hgvs": [
        "ENST00000550992.1:c.*138G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000448741.1:n.*138G>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS368392"
    },
    {
      "@id": "http://reg.genome.network/allele/PA112477",
      "coordinates": [
        {
          "allele": "C",
          "end": 271,
          "referenceAllele": "G",
          "start": 270
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000361",
      "geneNCBI_id": 203,
      "geneSymbol": "AK1",
      "hgvs": [
        "NM_000476.2:c.118G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_000467.1:p.Gly40Arg",
        "hgvsWellDefined": "NP_000467.1:p.Gly40Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006530"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 261,
          "referenceAllele": "G",
          "start": 260
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000361",
      "geneNCBI_id": 203,
      "geneSymbol": "AK1",
      "hgvs": [
        "XM_005251786.2:c.166G>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_005251843.1:p.Gly56Arg",
        "hgvsWellDefined": "XP_005251843.1:p.Gly56Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS059675"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 276,
          "referenceAllele": "G",
          "start": 275
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000361",
      "geneNCBI_id": 203,
      "geneSymbol": "AK1",
      "hgvs": [
        "XM_011518348.1:c.118G>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011516650.1:p.Gly40Arg",
        "hgvsWellDefined": "XP_011516650.1:p.Gly40Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS085522"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 322,
          "referenceAllele": "G",
          "start": 321
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000361",
      "geneNCBI_id": 203,
      "geneSymbol": "AK1",
      "hgvs": [
        "XM_011518349.1:c.-63G>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011516651.1:n.-63G>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS085523"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826979855",
      "coordinates": [
        {
          "allele": "C",
          "end": 258,
          "referenceAllele": "G",
          "start": 257
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000361",
      "geneNCBI_id": 203,
      "geneSymbol": "AK1",
      "hgvs": [
        "NM_001318121.1:c.118G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001305050.1:p.Gly40Arg",
        "hgvsWellDefined": "NP_001305050.1:p.Gly40Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS512749"
    },
    {
      "@id": "http://reg.genome.network/allele/PA916022277",
      "coordinates": [
        {
          "allele": "C",
          "end": 266,
          "referenceAllele": "G",
          "start": 265
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000361",
      "geneNCBI_id": 203,
      "geneSymbol": "AK1",
      "hgvs": [
        "NM_001318122.1:c.166G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001305051.1:p.Gly56Arg",
        "hgvsWellDefined": "NP_001305051.1:p.Gly56Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS512750"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 618,
          "referenceAllele": "G",
          "start": 617
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000361",
      "geneNCBI_id": 203,
      "geneSymbol": "AK1",
      "hgvs": [
        "XM_017014428.1:c.118G>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_016869917.1:p.Gly40Arg",
        "hgvsWellDefined": "XP_016869917.1:p.Gly40Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS567397"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 494,
          "referenceAllele": "G",
          "start": 493
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000361",
      "geneNCBI_id": 203,
      "geneSymbol": "AK1",
      "hgvs": [
        "XM_024447439.1:c.97G>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_024303207.1:p.Gly33Arg",
        "hgvsWellDefined": "XP_024303207.1:p.Gly33Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS581021"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 322,
          "referenceAllele": "G",
          "start": 321
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000361",
      "geneNCBI_id": 203,
      "geneSymbol": "AK1",
      "hgvs": [
        "XM_024447440.1:c.-63G>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_024303208.1:n.-63G>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS581022"
    },
    {
      "@id": "http://reg.genome.network/allele/PA916022277",
      "coordinates": [
        {
          "allele": "C",
          "end": 198,
          "referenceAllele": "G",
          "start": 197
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000361",
      "geneNCBI_id": 203,
      "geneSymbol": "AK1",
      "hgvs": [
        "NM_001318122.2:c.166G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001305051.1:p.Gly56Arg",
        "hgvsWellDefined": "NP_001305051.1:p.Gly56Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS684448"
    },
    {
      "@id": "http://reg.genome.network/allele/PA112477",
      "coordinates": [
        {
          "allele": "C",
          "end": 203,
          "referenceAllele": "G",
          "start": 202
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000361",
      "geneNCBI_id": 203,
      "geneSymbol": "AK1",
      "hgvs": [
        "NM_000476.3:c.118G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_000467.1:p.Gly40Arg",
        "hgvsWellDefined": "NP_000467.1:p.Gly40Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS710836",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000644144.2:c.118G>C"
          },
          "RefSeq": {
            "hgvs": "NM_000476.3:c.118G>C"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000494600.1:p.Gly40Arg"
          },
          "RefSeq": {
            "hgvs": "NP_000467.1:p.Gly40Arg"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 3437,
          "referenceAllele": "G",
          "start": 3436
        }
      ],
      "hgvs": [
        "NR_174625.1:n.3437G>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS785057"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 3317,
          "referenceAllele": "G",
          "start": 3316
        }
      ],
      "hgvs": [
        "NR_174626.1:n.3317G>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS785058"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 3317,
          "referenceAllele": "G",
          "start": 3316
        }
      ],
      "hgvs": [
        "NR_174627.1:n.3317G>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS785059"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2695,
          "referenceAllele": "G",
          "start": 2694
        }
      ],
      "hgvs": [
        "NR_174628.1:n.2695G>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS785060"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2640,
          "referenceAllele": "G",
          "start": 2639
        }
      ],
      "hgvs": [
        "NR_174629.1:n.2640G>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS785061"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2676,
          "referenceAllele": "G",
          "start": 2675
        }
      ],
      "hgvs": [
        "NR_174630.1:n.2676G>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS785062"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2621,
          "referenceAllele": "G",
          "start": 2620
        }
      ],
      "hgvs": [
        "NR_174631.1:n.2621G>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS785063"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2710,
          "referenceAllele": "G",
          "start": 2709
        }
      ],
      "hgvs": [
        "NR_174632.1:n.2710G>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS785064"
    }
  ],
  "type": "nucleotide"
}