{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA1172191111",
  "communityStandardTitle": [
    "NM_013410.4(AK4):c.145+19262T>G"
  ],
  "externalRecords": {
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/1109374",
        "rs": 1109374
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "1",
      "coordinates": [
        {
          "allele": "G",
          "end": 65167814,
          "referenceAllele": "T",
          "start": 65167813
        }
      ],
      "hgvs": [
        "NC_000001.11:g.65167814T>G",
        "CM000663.2:g.65167814T>G"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000049"
    },
    {
      "chromosome": "1",
      "coordinates": [
        {
          "allele": "G",
          "end": 65633497,
          "referenceAllele": "T",
          "start": 65633496
        }
      ],
      "hgvs": [
        "NC_000001.10:g.65633497T>G",
        "CM000663.1:g.65633497T>G"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000025"
    },
    {
      "chromosome": "1",
      "coordinates": [
        {
          "allele": "G",
          "end": 65406085,
          "referenceAllele": "T",
          "start": 65406084
        }
      ],
      "hgvs": [
        "NC_000001.9:g.65406085T>G"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000001"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 350,
          "endIntronDirection": "+",
          "endIntronOffset": 19262,
          "referenceAllele": "T",
          "start": 350,
          "startIntronDirection": "+",
          "startIntronOffset": 19261
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000363",
      "geneNCBI_id": 205,
      "geneSymbol": "AK4",
      "hgvs": [
        "ENST00000327299.8:c.145+19262T>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000322175.7:n.145+19262T>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS746822",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000327299.8:c.145+19262T>G"
          },
          "RefSeq": {
            "hgvs": "NM_013410.4:c.145+19262T>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000322175.7:n.145+19262T>G"
          },
          "RefSeq": {
            "hgvs": "NP_037542.1:n.145+19262T>G"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 350,
          "endIntronDirection": "+",
          "endIntronOffset": 19262,
          "referenceAllele": "T",
          "start": 350,
          "startIntronDirection": "+",
          "startIntronOffset": 19261
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000363",
      "geneNCBI_id": 205,
      "geneSymbol": "AK4",
      "hgvs": [
        "ENST00000327299.7:c.145+19262T>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000322175.7:n.145+19262T>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS258741"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 503,
          "endIntronDirection": "+",
          "endIntronOffset": 19262,
          "referenceAllele": "T",
          "start": 503,
          "startIntronDirection": "+",
          "startIntronOffset": 19261
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000363",
      "geneNCBI_id": 205,
      "geneSymbol": "AK4",
      "hgvs": [
        "ENST00000395334.6:c.145+19262T>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000378743.2:n.145+19262T>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS276636"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 664,
          "endIntronDirection": "+",
          "endIntronOffset": 19262,
          "referenceAllele": "T",
          "start": 664,
          "startIntronDirection": "+",
          "startIntronOffset": 19261
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000363",
      "geneNCBI_id": 205,
      "geneSymbol": "AK4",
      "hgvs": [
        "ENST00000470888.6:n.664+19262T>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS313211"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 139,
          "endIntronDirection": "+",
          "endIntronOffset": 18674,
          "referenceAllele": "T",
          "start": 139,
          "startIntronDirection": "+",
          "startIntronOffset": 18673
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000363",
      "geneNCBI_id": 205,
      "geneSymbol": "AK4",
      "hgvs": [
        "ENST00000474968.5:n.139+18674T>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS316360"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 88,
          "endIntronDirection": "+",
          "endIntronOffset": 1795,
          "referenceAllele": "T",
          "start": 88,
          "startIntronDirection": "+",
          "startIntronOffset": 1794
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000363",
      "geneNCBI_id": 205,
      "geneSymbol": "AK4",
      "hgvs": [
        "ENST00000479060.1:n.88+1795T>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS319525"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 392,
          "endIntronDirection": "+",
          "endIntronOffset": 19262,
          "referenceAllele": "T",
          "start": 392,
          "startIntronDirection": "+",
          "startIntronOffset": 19261
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000363",
      "geneNCBI_id": 205,
      "geneSymbol": "AK4",
      "hgvs": [
        "ENST00000497030.5:n.392+19262T>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS333361"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 392,
          "endIntronDirection": "+",
          "endIntronOffset": 19262,
          "referenceAllele": "T",
          "start": 392,
          "startIntronDirection": "+",
          "startIntronOffset": 19261
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000363",
      "geneNCBI_id": 205,
      "geneSymbol": "AK4",
      "hgvs": [
        "ENST00000545314.5:c.145+19262T>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000445912.1:n.145+19262T>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS365046"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 94,
          "endIntronDirection": "+",
          "endIntronOffset": 20051,
          "referenceAllele": "T",
          "start": 94,
          "startIntronDirection": "+",
          "startIntronOffset": 20050
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000363",
      "geneNCBI_id": 205,
      "geneSymbol": "AK4",
      "hgvs": [
        "ENST00000546702.5:c.-12+20051T>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000448458.1:n.-12+20051T>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS365809"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 503,
          "endIntronDirection": "+",
          "endIntronOffset": 19262,
          "referenceAllele": "T",
          "start": 503,
          "startIntronDirection": "+",
          "startIntronOffset": 19261
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000363",
      "geneNCBI_id": 205,
      "geneSymbol": "AK4",
      "hgvs": [
        "NM_001005353.2:c.145+19262T>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001005353.1:n.145+19262T>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS007688"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 386,
          "endIntronDirection": "+",
          "endIntronOffset": 19262,
          "referenceAllele": "T",
          "start": 386,
          "startIntronDirection": "+",
          "startIntronOffset": 19261
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000363",
      "geneNCBI_id": 205,
      "geneSymbol": "AK4",
      "hgvs": [
        "NM_013410.3:c.145+19262T>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_037542.1:n.145+19262T>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS032791"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 392,
          "endIntronDirection": "+",
          "endIntronOffset": 19262,
          "referenceAllele": "T",
          "start": 392,
          "startIntronDirection": "+",
          "startIntronOffset": 19261
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000363",
      "geneNCBI_id": 205,
      "geneSymbol": "AK4",
      "hgvs": [
        "NM_203464.2:c.145+19262T>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_982289.1:n.145+19262T>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS045222"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 138,
          "endIntronDirection": "+",
          "endIntronOffset": 18674,
          "referenceAllele": "T",
          "start": 138,
          "startIntronDirection": "+",
          "startIntronOffset": 18673
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000363",
      "geneNCBI_id": 205,
      "geneSymbol": "AK4",
      "hgvs": [
        "NM_001330616.1:c.-12+18674T>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001317545.1:n.-12+18674T>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS516958"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 324,
          "endIntronDirection": "+",
          "endIntronOffset": 20149,
          "referenceAllele": "T",
          "start": 324,
          "startIntronDirection": "+",
          "startIntronOffset": 20148
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000363",
      "geneNCBI_id": 205,
      "geneSymbol": "AK4",
      "hgvs": [
        "XM_017000613.1:c.-12+20149T>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_016856102.1:n.-12+20149T>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS556951"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 350,
          "endIntronDirection": "+",
          "endIntronOffset": 19262,
          "referenceAllele": "T",
          "start": 350,
          "startIntronDirection": "+",
          "startIntronOffset": 19261
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000363",
      "geneNCBI_id": 205,
      "geneSymbol": "AK4",
      "hgvs": [
        "NM_013410.4:c.145+19262T>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_037542.1:n.145+19262T>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS668151",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000327299.8:c.145+19262T>G"
          },
          "RefSeq": {
            "hgvs": "NM_013410.4:c.145+19262T>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000322175.7:n.145+19262T>G"
          },
          "RefSeq": {
            "hgvs": "NP_037542.1:n.145+19262T>G"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 147,
          "endIntronDirection": "+",
          "endIntronOffset": 18674,
          "referenceAllele": "T",
          "start": 147,
          "startIntronDirection": "+",
          "startIntronOffset": 18673
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000363",
      "geneNCBI_id": 205,
      "geneSymbol": "AK4",
      "hgvs": [
        "NM_001330616.2:c.-12+18674T>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001317545.1:n.-12+18674T>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS687034"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 480,
          "endIntronDirection": "+",
          "endIntronOffset": 19262,
          "referenceAllele": "T",
          "start": 480,
          "startIntronDirection": "+",
          "startIntronOffset": 19261
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000363",
      "geneNCBI_id": 205,
      "geneSymbol": "AK4",
      "hgvs": [
        "NM_001005353.3:c.145+19262T>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001005353.1:n.145+19262T>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS711143"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 389,
          "endIntronDirection": "+",
          "endIntronOffset": 19262,
          "referenceAllele": "T",
          "start": 389,
          "startIntronDirection": "+",
          "startIntronOffset": 19261
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000363",
      "geneNCBI_id": 205,
      "geneSymbol": "AK4",
      "hgvs": [
        "NM_203464.3:c.145+19262T>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_982289.1:n.145+19262T>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS730072"
    }
  ],
  "type": "nucleotide"
}