{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA377399026",
  "communityStandardTitle": [
    "NM_006721.4(ADK):c.953C>T (p.Ala318Val)"
  ],
  "externalRecords": {
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr10:g.76430016C>T?assembly=hg19",
        "id": "chr10:g.76430016C>T"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr10:g.74670258C>T?assembly=hg38",
        "id": "chr10:g.74670258C>T"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/397514452",
        "rs": 397514452
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/10-76430016-C-T?dataset=gnomad_r2_1",
        "id": "10-76430016-C-T",
        "variant": "10:76430016 C / T"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/10-74670258-C-T?dataset=gnomad_r4",
        "id": "10-74670258-C-T",
        "variant": "10:74670258 C / T"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "10",
      "coordinates": [
        {
          "allele": "T",
          "end": 74670258,
          "referenceAllele": "C",
          "start": 74670257
        }
      ],
      "hgvs": [
        "NC_000010.11:g.74670258C>T",
        "CM000672.2:g.74670258C>T"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000058"
    },
    {
      "chromosome": "10",
      "coordinates": [
        {
          "allele": "T",
          "end": 76430016,
          "referenceAllele": "C",
          "start": 76430015
        }
      ],
      "hgvs": [
        "NC_000010.10:g.76430016C>T",
        "CM000672.1:g.76430016C>T"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000034"
    },
    {
      "chromosome": "10",
      "coordinates": [
        {
          "allele": "T",
          "end": 76100022,
          "referenceAllele": "C",
          "start": 76100021
        }
      ],
      "hgvs": [
        "NC_000010.9:g.76100022C>T"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000010"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 524074,
          "referenceAllele": "C",
          "start": 524073
        }
      ],
      "hgvs": [
        "NG_030484.1:g.524074C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS004955"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 524074,
          "referenceAllele": "C",
          "start": 524073
        }
      ],
      "hgvs": [
        "NG_030484.2:g.524074C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS673845"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1008,
          "referenceAllele": "C",
          "start": 1007
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000257",
      "geneNCBI_id": 132,
      "geneSymbol": "ADK",
      "hgvs": [
        "ENST00000286621.7:c.953C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000286621.3:p.Ala318Val",
        "hgvsWellDefined": "ENSP00000286621.3:p.Ala318Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS743858"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1012,
          "referenceAllele": "C",
          "start": 1011
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000257",
      "geneNCBI_id": 132,
      "geneSymbol": "ADK",
      "hgvs": [
        "ENST00000372734.5:c.902C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000361819.3:p.Ala301Val",
        "hgvsWellDefined": "ENSP00000361819.3:p.Ala301Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS751073"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1011,
          "referenceAllele": "C",
          "start": 1010
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000257",
      "geneNCBI_id": 132,
      "geneSymbol": "ADK",
      "hgvs": [
        "ENST00000539909.6:c.953C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000443965.2:p.Ala318Val",
        "hgvsWellDefined": "ENSP00000443965.2:p.Ala318Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS759612",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000539909.6:c.953C>T"
          },
          "RefSeq": {
            "hgvs": "NM_006721.4:c.953C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000443965.2:p.Ala318Val"
          },
          "RefSeq": {
            "hgvs": "NP_006712.2:p.Ala318Val"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1005,
          "referenceAllele": "C",
          "start": 1004
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000257",
      "geneNCBI_id": 132,
      "geneSymbol": "ADK",
      "hgvs": [
        "ENST00000541550.6:c.902C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000438321.2:p.Ala301Val",
        "hgvsWellDefined": "ENSP00000438321.2:p.Ala301Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS759667"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1419,
          "referenceAllele": "C",
          "start": 1418
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000257",
      "geneNCBI_id": 132,
      "geneSymbol": "ADK",
      "hgvs": [
        "ENST00000672394.1:c.677C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000500390.1:p.Ala226Val",
        "hgvsWellDefined": "ENSP00000500390.1:p.Ala226Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS773369"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 859,
          "referenceAllele": "C",
          "start": 858
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000257",
      "geneNCBI_id": 132,
      "geneSymbol": "ADK",
      "hgvs": [
        "ENST00000672429.1:c.782C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000500292.1:p.Ala261Val",
        "hgvsWellDefined": "ENSP00000500292.1:p.Ala261Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS773383"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 502,
          "endIntronDirection": "-",
          "endIntronOffset": 38062,
          "referenceAllele": "C",
          "start": 502,
          "startIntronDirection": "-",
          "startIntronOffset": 38063
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000257",
      "geneNCBI_id": 132,
      "geneSymbol": "ADK",
      "hgvs": [
        "ENST00000672604.1:c.503-38063C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS773430"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1287,
          "referenceAllele": "C",
          "start": 1286
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000257",
      "geneNCBI_id": 132,
      "geneSymbol": "ADK",
      "hgvs": [
        "ENST00000672920.1:c.*698C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000500141.1:n.*698C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS773542"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 958,
          "referenceAllele": "C",
          "start": 957
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000257",
      "geneNCBI_id": 132,
      "geneSymbol": "ADK",
      "hgvs": [
        "ENST00000673027.1:c.848C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000500201.1:p.Ala283Val",
        "hgvsWellDefined": "ENSP00000500201.1:p.Ala283Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS773574"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1558,
          "referenceAllele": "C",
          "start": 1557
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000257",
      "geneNCBI_id": 132,
      "geneSymbol": "ADK",
      "hgvs": [
        "ENST00000673310.1:c.*546C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000500097.1:n.*546C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS773645"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 877,
          "referenceAllele": "C",
          "start": 876
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000257",
      "geneNCBI_id": 132,
      "geneSymbol": "ADK",
      "hgvs": [
        "ENST00000673352.1:c.838C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000500056.1:p.His280Tyr",
        "hgvsWellDefined": "ENSP00000500056.1:p.His280Tyr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS773655"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1003,
          "referenceAllele": "C",
          "start": 1002
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000257",
      "geneNCBI_id": 132,
      "geneSymbol": "ADK",
      "hgvs": [
        "ENST00000286621.6:c.953C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000286621.2:p.Ala318Val",
        "hgvsWellDefined": "ENSP00000286621.2:p.Ala318Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS253379"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1089,
          "referenceAllele": "C",
          "start": 1088
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000257",
      "geneNCBI_id": 132,
      "geneSymbol": "ADK",
      "hgvs": [
        "ENST00000372734.3:c.902C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000361819.3:p.Ala301Val",
        "hgvsWellDefined": "ENSP00000361819.3:p.Ala301Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS269279"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 876,
          "referenceAllele": "C",
          "start": 875
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000257",
      "geneNCBI_id": 132,
      "geneSymbol": "ADK",
      "hgvs": [
        "ENST00000539909.5:c.782C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000443965.1:p.Ala261Val",
        "hgvsWellDefined": "ENSP00000443965.1:p.Ala261Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS362121"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1232,
          "referenceAllele": "C",
          "start": 1231
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000257",
      "geneNCBI_id": 132,
      "geneSymbol": "ADK",
      "hgvs": [
        "ENST00000541550.5:c.848C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000438321.1:p.Ala283Val",
        "hgvsWellDefined": "ENSP00000438321.1:p.Ala283Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS362983"
    },
    {
      "@id": "http://reg.genome.network/allele/PA3076776730",
      "coordinates": [
        {
          "allele": "T",
          "end": 1286,
          "referenceAllele": "C",
          "start": 1285
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000257",
      "geneNCBI_id": 132,
      "geneSymbol": "ADK",
      "hgvs": [
        "NM_001123.3:c.902C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001114.2:p.Ala301Val",
        "hgvsWellDefined": "NP_001114.2:p.Ala301Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS011435"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1232,
          "referenceAllele": "C",
          "start": 1231
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000257",
      "geneNCBI_id": 132,
      "geneSymbol": "ADK",
      "hgvs": [
        "NM_001202449.1:c.848C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001189378.1:p.Ala283Val",
        "hgvsWellDefined": "NP_001189378.1:p.Ala283Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS017406"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 876,
          "referenceAllele": "C",
          "start": 875
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000257",
      "geneNCBI_id": 132,
      "geneSymbol": "ADK",
      "hgvs": [
        "NM_001202450.1:c.782C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001189379.1:p.Ala261Val",
        "hgvsWellDefined": "NP_001189379.1:p.Ala261Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS017407"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1047,
          "referenceAllele": "C",
          "start": 1046
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000257",
      "geneNCBI_id": 132,
      "geneSymbol": "ADK",
      "hgvs": [
        "NM_006721.3:c.953C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_006712.2:p.Ala318Val",
        "hgvsWellDefined": "NP_006712.2:p.Ala318Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS031710"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1200,
          "referenceAllele": "C",
          "start": 1199
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000257",
      "geneNCBI_id": 132,
      "geneSymbol": "ADK",
      "hgvs": [
        "XM_011539297.1:c.869C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011537599.1:p.Ala290Val",
        "hgvsWellDefined": "XP_011537599.1:p.Ala290Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS106247"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 773,
          "referenceAllele": "C",
          "start": 772
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000257",
      "geneNCBI_id": 132,
      "geneSymbol": "ADK",
      "hgvs": [
        "XM_017015699.1:c.758C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_016871188.1:p.Ala253Val",
        "hgvsWellDefined": "XP_016871188.1:p.Ala253Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS568339"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 932,
          "referenceAllele": "C",
          "start": 931
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000257",
      "geneNCBI_id": 132,
      "geneSymbol": "ADK",
      "hgvs": [
        "XM_017015700.1:c.838C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_016871189.1:p.His280Tyr",
        "hgvsWellDefined": "XP_016871189.1:p.His280Tyr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS568340"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1050,
          "referenceAllele": "C",
          "start": 1049
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000257",
      "geneNCBI_id": 132,
      "geneSymbol": "ADK",
      "hgvs": [
        "XM_017015701.1:c.731C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_016871190.1:p.Ala244Val",
        "hgvsWellDefined": "XP_016871190.1:p.Ala244Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS568341"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1106,
          "referenceAllele": "C",
          "start": 1105
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000257",
      "geneNCBI_id": 132,
      "geneSymbol": "ADK",
      "hgvs": [
        "XM_017015702.1:c.787C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_016871191.1:p.His263Tyr",
        "hgvsWellDefined": "XP_016871191.1:p.His263Tyr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS568342"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 705,
          "referenceAllele": "C",
          "start": 704
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000257",
      "geneNCBI_id": 132,
      "geneSymbol": "ADK",
      "hgvs": [
        "XM_017015703.2:c.677C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_016871192.1:p.Ala226Val",
        "hgvsWellDefined": "XP_016871192.1:p.Ala226Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS568343"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 761,
          "referenceAllele": "C",
          "start": 760
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000257",
      "geneNCBI_id": 132,
      "geneSymbol": "ADK",
      "hgvs": [
        "XM_017015705.1:c.667C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_016871194.1:p.His223Tyr",
        "hgvsWellDefined": "XP_016871194.1:p.His223Tyr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS568345"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 896,
          "referenceAllele": "C",
          "start": 895
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000257",
      "geneNCBI_id": 132,
      "geneSymbol": "ADK",
      "hgvs": [
        "NM_001369123.1:c.838C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001356052.1:p.His280Tyr",
        "hgvsWellDefined": "NP_001356052.1:p.His280Tyr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS691560"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 841,
          "referenceAllele": "C",
          "start": 840
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000257",
      "geneNCBI_id": 132,
      "geneSymbol": "ADK",
      "hgvs": [
        "NM_001369124.1:c.731C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001356053.1:p.Ala244Val",
        "hgvsWellDefined": "NP_001356053.1:p.Ala244Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS691561"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1011,
          "referenceAllele": "C",
          "start": 1010
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000257",
      "geneNCBI_id": 132,
      "geneSymbol": "ADK",
      "hgvs": [
        "NM_006721.4:c.953C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_006712.2:p.Ala318Val",
        "hgvsWellDefined": "NP_006712.2:p.Ala318Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS696799",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000539909.6:c.953C>T"
          },
          "RefSeq": {
            "hgvs": "NM_006721.4:c.953C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000443965.2:p.Ala318Val"
          },
          "RefSeq": {
            "hgvs": "NP_006712.2:p.Ala318Val"
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA3076776730",
      "coordinates": [
        {
          "allele": "T",
          "end": 1012,
          "referenceAllele": "C",
          "start": 1011
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000257",
      "geneNCBI_id": 132,
      "geneSymbol": "ADK",
      "hgvs": [
        "NM_001123.4:c.902C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001114.2:p.Ala301Val",
        "hgvsWellDefined": "NP_001114.2:p.Ala301Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS712154"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 958,
          "referenceAllele": "C",
          "start": 957
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000257",
      "geneNCBI_id": 132,
      "geneSymbol": "ADK",
      "hgvs": [
        "NM_001202449.2:c.848C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001189378.1:p.Ala283Val",
        "hgvsWellDefined": "NP_001189378.1:p.Ala283Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS714089"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 840,
          "referenceAllele": "C",
          "start": 839
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000257",
      "geneNCBI_id": 132,
      "geneSymbol": "ADK",
      "hgvs": [
        "NM_001202450.2:c.782C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001189379.1:p.Ala261Val",
        "hgvsWellDefined": "NP_001189379.1:p.Ala261Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS714090"
    }
  ],
  "type": "nucleotide"
}