{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA367641771",
  "communityStandardTitle": [
    "NM_000181.4(GUSB):c.1412A>C (p.Lys471Thr)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=562127[alleleid]",
        "alleleId": 562127,
        "preferredName": "NM_000181.4(GUSB):c.1412A>C (p.Lys471Thr)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/568226",
        "RCV": [
          "RCV000688513",
          "RCV003424279"
        ],
        "variationId": 568226
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr7:g.65435333T>G?assembly=hg19",
        "id": "chr7:g.65435333T>G"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr7:g.65970346T>G?assembly=hg38",
        "id": "chr7:g.65970346T>G"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/1302470051",
        "rs": 1302470051
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/7-65435333-T-G?dataset=gnomad_r2_1",
        "id": "7-65435333-T-G",
        "variant": "7:65435333 T / G"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/7-65970346-T-G?dataset=gnomad_r4",
        "id": "7-65970346-T-G",
        "variant": "7:65970346 T / G"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "7",
      "coordinates": [
        {
          "allele": "G",
          "end": 65970346,
          "referenceAllele": "T",
          "start": 65970345
        }
      ],
      "hgvs": [
        "NC_000007.14:g.65970346T>G",
        "CM000669.2:g.65970346T>G"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000055"
    },
    {
      "chromosome": "7",
      "coordinates": [
        {
          "allele": "G",
          "end": 65435333,
          "referenceAllele": "T",
          "start": 65435332
        }
      ],
      "hgvs": [
        "NC_000007.13:g.65435333T>G",
        "CM000669.1:g.65435333T>G"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000031"
    },
    {
      "chromosome": "7",
      "coordinates": [
        {
          "allele": "G",
          "end": 65072768,
          "referenceAllele": "T",
          "start": 65072767
        }
      ],
      "hgvs": [
        "NC_000007.12:g.65072768T>G"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000007"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 16969,
          "referenceAllele": "A",
          "start": 16968
        }
      ],
      "hgvs": [
        "NG_016197.1:g.16969A>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS003003"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1442,
          "referenceAllele": "A",
          "start": 1441
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004696",
      "geneNCBI_id": 2990,
      "geneSymbol": "GUSB",
      "hgvs": [
        "ENST00000304895.9:c.1412A>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000302728.4:p.Lys471Thr",
        "hgvsWellDefined": "ENSP00000302728.4:p.Lys471Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS745155",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000304895.9:c.1412A>C"
          },
          "RefSeq": {
            "hgvs": "NM_000181.4:c.1412A>C"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000302728.4:p.Lys471Thr"
          },
          "RefSeq": {
            "hgvs": "NP_000172.2:p.Lys471Thr"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1543,
          "referenceAllele": "A",
          "start": 1542
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004696",
      "geneNCBI_id": 2990,
      "geneSymbol": "GUSB",
      "hgvs": [
        "ENST00000304895.8:c.1412A>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000302728.4:p.Lys471Thr",
        "hgvsWellDefined": "ENSP00000302728.4:p.Lys471Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS255527"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1002,
          "referenceAllele": "A",
          "start": 1001
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004696",
      "geneNCBI_id": 2990,
      "geneSymbol": "GUSB",
      "hgvs": [
        "ENST00000421103.5:c.974A>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000391390.1:p.Lys325Thr",
        "hgvsWellDefined": "ENSP00000391390.1:p.Lys325Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS286638"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1116,
          "referenceAllele": "A",
          "start": 1115
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004696",
      "geneNCBI_id": 2990,
      "geneSymbol": "GUSB",
      "hgvs": [
        "ENST00000430730.5:c.*679A>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000411859.1:n.*679A>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS291283"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1240,
          "referenceAllele": "A",
          "start": 1239
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004696",
      "geneNCBI_id": 2990,
      "geneSymbol": "GUSB",
      "hgvs": [
        "ENST00000447929.5:c.*792A>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000411262.1:n.*792A>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS299491"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 450,
          "referenceAllele": "A",
          "start": 449
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004696",
      "geneNCBI_id": 2990,
      "geneSymbol": "GUSB",
      "hgvs": [
        "ENST00000462371.1:n.450A>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS306643"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1866,
          "endIntronDirection": "-",
          "endIntronOffset": 2438,
          "referenceAllele": "A",
          "start": 1866,
          "startIntronDirection": "-",
          "startIntronOffset": 2439
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004696",
      "geneNCBI_id": 2990,
      "geneSymbol": "GUSB",
      "hgvs": [
        "ENST00000466883.5:n.1867-2439A>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS310133"
    },
    {
      "@id": "http://reg.genome.network/allele/PA891846370",
      "coordinates": [
        {
          "allele": "C",
          "end": 1543,
          "referenceAllele": "A",
          "start": 1542
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004696",
      "geneNCBI_id": 2990,
      "geneSymbol": "GUSB",
      "hgvs": [
        "NM_000181.3:c.1412A>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_000172.2:p.Lys471Thr",
        "hgvsWellDefined": "NP_000172.2:p.Lys471Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006243"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826687768",
      "coordinates": [
        {
          "allele": "C",
          "end": 1105,
          "referenceAllele": "A",
          "start": 1104
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004696",
      "geneNCBI_id": 2990,
      "geneSymbol": "GUSB",
      "hgvs": [
        "NM_001284290.1:c.974A>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001271219.1:p.Lys325Thr",
        "hgvsWellDefined": "NP_001271219.1:p.Lys325Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS022544"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826822313",
      "coordinates": [
        {
          "allele": "C",
          "end": 1358,
          "referenceAllele": "A",
          "start": 1357
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004696",
      "geneNCBI_id": 2990,
      "geneSymbol": "GUSB",
      "hgvs": [
        "NM_001293104.1:c.842A>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001280033.1:p.Lys281Thr",
        "hgvsWellDefined": "NP_001280033.1:p.Lys281Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS024484"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826822550",
      "coordinates": [
        {
          "allele": "C",
          "end": 1215,
          "referenceAllele": "A",
          "start": 1214
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004696",
      "geneNCBI_id": 2990,
      "geneSymbol": "GUSB",
      "hgvs": [
        "NM_001293105.1:c.755A>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001280034.1:p.Lys252Thr",
        "hgvsWellDefined": "NP_001280034.1:p.Lys252Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS024485"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1522,
          "endIntronDirection": "-",
          "endIntronOffset": 2438,
          "referenceAllele": "A",
          "start": 1522,
          "startIntronDirection": "-",
          "startIntronOffset": 2439
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004696",
      "geneNCBI_id": 2990,
      "geneSymbol": "GUSB",
      "hgvs": [
        "NR_120531.1:n.1523-2439A>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS055408"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1385,
          "referenceAllele": "A",
          "start": 1384
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004696",
      "geneNCBI_id": 2990,
      "geneSymbol": "GUSB",
      "hgvs": [
        "XM_005250297.3:c.1259A>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_005250354.1:p.Lys420Thr",
        "hgvsWellDefined": "XP_005250354.1:p.Lys420Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS059136"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1287,
          "referenceAllele": "A",
          "start": 1286
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004696",
      "geneNCBI_id": 2990,
      "geneSymbol": "GUSB",
      "hgvs": [
        "XM_011516113.1:c.911A>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011514415.1:p.Lys304Thr",
        "hgvsWellDefined": "XP_011514415.1:p.Lys304Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS083316"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1215,
          "referenceAllele": "A",
          "start": 1214
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004696",
      "geneNCBI_id": 2990,
      "geneSymbol": "GUSB",
      "hgvs": [
        "XM_011516114.1:c.740A>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011514416.1:p.Lys247Thr",
        "hgvsWellDefined": "XP_011514416.1:p.Lys247Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS083317"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1498,
          "referenceAllele": "A",
          "start": 1497
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004696",
      "geneNCBI_id": 2990,
      "geneSymbol": "GUSB",
      "hgvs": [
        "XR_927461.1:n.1498A>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS123866"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1304,
          "referenceAllele": "A",
          "start": 1303
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004696",
      "geneNCBI_id": 2990,
      "geneSymbol": "GUSB",
      "hgvs": [
        "XM_005250297.4:c.1259A>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_005250354.1:p.Lys420Thr",
        "hgvsWellDefined": "XP_005250354.1:p.Lys420Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS533417"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1436,
          "referenceAllele": "A",
          "start": 1435
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004696",
      "geneNCBI_id": 2990,
      "geneSymbol": "GUSB",
      "hgvs": [
        "XM_011516114.2:c.740A>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011514416.1:p.Lys247Thr",
        "hgvsWellDefined": "XP_011514416.1:p.Lys247Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS544028"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1134,
          "referenceAllele": "A",
          "start": 1133
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004696",
      "geneNCBI_id": 2990,
      "geneSymbol": "GUSB",
      "hgvs": [
        "XM_017012091.1:c.758A>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_016867580.1:p.Lys253Thr",
        "hgvsWellDefined": "XP_016867580.1:p.Lys253Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS565781"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1121,
          "referenceAllele": "A",
          "start": 1120
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004696",
      "geneNCBI_id": 2990,
      "geneSymbol": "GUSB",
      "hgvs": [
        "XM_017012092.1:c.689A>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_016867581.1:p.Lys230Thr",
        "hgvsWellDefined": "XP_016867581.1:p.Lys230Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS565782"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1283,
          "referenceAllele": "A",
          "start": 1282
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004696",
      "geneNCBI_id": 2990,
      "geneSymbol": "GUSB",
      "hgvs": [
        "XM_017012093.2:c.587A>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_016867582.1:p.Lys196Thr",
        "hgvsWellDefined": "XP_016867582.1:p.Lys196Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS565783"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1283,
          "endIntronDirection": "-",
          "endIntronOffset": 2438,
          "referenceAllele": "A",
          "start": 1283,
          "startIntronDirection": "-",
          "startIntronOffset": 2439
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004696",
      "geneNCBI_id": 2990,
      "geneSymbol": "GUSB",
      "hgvs": [
        "XR_001744658.2:n.1284-2439A>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS593381"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1396,
          "endIntronDirection": "-",
          "endIntronOffset": 2438,
          "referenceAllele": "A",
          "start": 1396,
          "startIntronDirection": "-",
          "startIntronOffset": 2439
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004696",
      "geneNCBI_id": 2990,
      "geneSymbol": "GUSB",
      "hgvs": [
        "XR_001744659.2:n.1397-2439A>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS593382"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1264,
          "referenceAllele": "A",
          "start": 1263
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004696",
      "geneNCBI_id": 2990,
      "geneSymbol": "GUSB",
      "hgvs": [
        "XR_001744660.2:n.1264A>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS593383"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1243,
          "endIntronDirection": "-",
          "endIntronOffset": 2438,
          "referenceAllele": "A",
          "start": 1243,
          "startIntronDirection": "-",
          "startIntronOffset": 2439
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004696",
      "geneNCBI_id": 2990,
      "geneSymbol": "GUSB",
      "hgvs": [
        "XR_001744661.2:n.1244-2439A>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS593384"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1417,
          "referenceAllele": "A",
          "start": 1416
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004696",
      "geneNCBI_id": 2990,
      "geneSymbol": "GUSB",
      "hgvs": [
        "XR_927461.3:n.1417A>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS608548"
    },
    {
      "@id": "http://reg.genome.network/allele/PA891846370",
      "coordinates": [
        {
          "allele": "C",
          "end": 1442,
          "referenceAllele": "A",
          "start": 1441
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004696",
      "geneNCBI_id": 2990,
      "geneSymbol": "GUSB",
      "hgvs": [
        "NM_000181.4:c.1412A>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_000172.2:p.Lys471Thr",
        "hgvsWellDefined": "NP_000172.2:p.Lys471Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS662341",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000304895.9:c.1412A>C"
          },
          "RefSeq": {
            "hgvs": "NM_000181.4:c.1412A>C"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000302728.4:p.Lys471Thr"
          },
          "RefSeq": {
            "hgvs": "NP_000172.2:p.Lys471Thr"
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826687768",
      "coordinates": [
        {
          "allele": "C",
          "end": 1004,
          "referenceAllele": "A",
          "start": 1003
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004696",
      "geneNCBI_id": 2990,
      "geneSymbol": "GUSB",
      "hgvs": [
        "NM_001284290.2:c.974A>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001271219.1:p.Lys325Thr",
        "hgvsWellDefined": "NP_001271219.1:p.Lys325Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS682044"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826822313",
      "coordinates": [
        {
          "allele": "C",
          "end": 1257,
          "referenceAllele": "A",
          "start": 1256
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004696",
      "geneNCBI_id": 2990,
      "geneSymbol": "GUSB",
      "hgvs": [
        "NM_001293104.2:c.842A>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001280033.1:p.Lys281Thr",
        "hgvsWellDefined": "NP_001280033.1:p.Lys281Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS682970"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826822550",
      "coordinates": [
        {
          "allele": "C",
          "end": 1114,
          "referenceAllele": "A",
          "start": 1113
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004696",
      "geneNCBI_id": 2990,
      "geneSymbol": "GUSB",
      "hgvs": [
        "NM_001293105.2:c.755A>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001280034.1:p.Lys252Thr",
        "hgvsWellDefined": "NP_001280034.1:p.Lys252Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS682971"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1421,
          "endIntronDirection": "-",
          "endIntronOffset": 2438,
          "referenceAllele": "A",
          "start": 1421,
          "startIntronDirection": "-",
          "startIntronOffset": 2439
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004696",
      "geneNCBI_id": 2990,
      "geneSymbol": "GUSB",
      "hgvs": [
        "NR_120531.2:n.1422-2439A>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS703205"
    }
  ],
  "type": "nucleotide"
}