{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA444095458",
  "communityStandardTitle": [
    "NM_133433.4(NIPBL):c.1278A>C (p.Thr426=)"
  ],
  "externalRecords": {
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr5:g.36976287A>C?assembly=hg19",
        "id": "chr5:g.36976287A>C"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "5",
      "coordinates": [
        {
          "allele": "C",
          "end": 36976185,
          "referenceAllele": "A",
          "start": 36976184
        }
      ],
      "hgvs": [
        "NC_000005.10:g.36976185A>C",
        "CM000667.2:g.36976185A>C"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000053"
    },
    {
      "chromosome": "5",
      "coordinates": [
        {
          "allele": "C",
          "end": 36976287,
          "referenceAllele": "A",
          "start": 36976286
        }
      ],
      "hgvs": [
        "NC_000005.9:g.36976287A>C",
        "CM000667.1:g.36976287A>C"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000029"
    },
    {
      "chromosome": "5",
      "coordinates": [
        {
          "allele": "C",
          "end": 37012044,
          "referenceAllele": "A",
          "start": 37012043
        }
      ],
      "hgvs": [
        "NC_000005.8:g.37012044A>C"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000005"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 104303,
          "referenceAllele": "A",
          "start": 104302
        }
      ],
      "hgvs": [
        "NG_006987.1:g.104303A>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS000441"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 104303,
          "referenceAllele": "A",
          "start": 104302
        }
      ],
      "hgvs": [
        "NG_006987.2:g.104303A>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS673476"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1767,
          "referenceAllele": "A",
          "start": 1766
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028862",
      "geneNCBI_id": 25836,
      "geneSymbol": "NIPBL",
      "hgvs": [
        "ENST00000282516.13:c.1278A>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000282516.8:p.Thr426="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS743670",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000282516.13:c.1278A>C"
          },
          "RefSeq": {
            "hgvs": "NM_133433.4:c.1278A>C"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000282516.8:p.Thr426="
          },
          "RefSeq": {
            "hgvs": "NP_597677.2:p.Thr426="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1695,
          "referenceAllele": "A",
          "start": 1694
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028862",
      "geneNCBI_id": 25836,
      "geneSymbol": "NIPBL",
      "hgvs": [
        "ENST00000652901.1:c.1278A>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000499536.1:p.Thr426="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS772402"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1777,
          "referenceAllele": "A",
          "start": 1776
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028862",
      "geneNCBI_id": 25836,
      "geneSymbol": "NIPBL",
      "hgvs": [
        "ENST00000282516.12:c.1278A>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000282516.8:p.Thr426="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS253093"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1746,
          "referenceAllele": "A",
          "start": 1745
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028862",
      "geneNCBI_id": 25836,
      "geneSymbol": "NIPBL",
      "hgvs": [
        "ENST00000448238.2:c.1278A>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000406266.2:p.Thr426="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS299633"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 898,
          "referenceAllele": "A",
          "start": 897
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028862",
      "geneNCBI_id": 25836,
      "geneSymbol": "NIPBL",
      "hgvs": [
        "ENST00000504430.5:n.898A>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS336488"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 22,
          "endIntronDirection": "-",
          "endIntronOffset": 88392,
          "referenceAllele": "A",
          "start": 22,
          "startIntronDirection": "-",
          "startIntronOffset": 88393
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028862",
      "geneNCBI_id": 25836,
      "geneSymbol": "NIPBL",
      "hgvs": [
        "ENST00000621733.1:c.1-88393A>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000480694.1:n.1-88393A>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS405408"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829821487",
      "coordinates": [
        {
          "allele": "C",
          "end": 1777,
          "referenceAllele": "A",
          "start": 1776
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028862",
      "geneNCBI_id": 25836,
      "geneSymbol": "NIPBL",
      "hgvs": [
        "NM_015384.4:c.1278A>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_056199.2:p.Thr426="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS033980"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2830227819",
      "coordinates": [
        {
          "allele": "C",
          "end": 1777,
          "referenceAllele": "A",
          "start": 1776
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028862",
      "geneNCBI_id": 25836,
      "geneSymbol": "NIPBL",
      "hgvs": [
        "NM_133433.3:c.1278A>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_597677.2:p.Thr426="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS040510"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1766,
          "referenceAllele": "A",
          "start": 1765
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028862",
      "geneNCBI_id": 25836,
      "geneSymbol": "NIPBL",
      "hgvs": [
        "XM_005248280.2:c.1278A>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_005248337.1:p.Thr426="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS058379"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 605,
          "referenceAllele": "A",
          "start": 604
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028862",
      "geneNCBI_id": 25836,
      "geneSymbol": "NIPBL",
      "hgvs": [
        "XM_005248282.3:c.534A>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_005248339.2:p.Thr178="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS058380"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1766,
          "referenceAllele": "A",
          "start": 1765
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028862",
      "geneNCBI_id": 25836,
      "geneSymbol": "NIPBL",
      "hgvs": [
        "XM_006714467.2:c.1278A>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_006714530.1:p.Thr426="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS070673"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1766,
          "referenceAllele": "A",
          "start": 1765
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028862",
      "geneNCBI_id": 25836,
      "geneSymbol": "NIPBL",
      "hgvs": [
        "XM_006714468.1:c.1278A>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_006714531.1:p.Thr426="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS070674"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1766,
          "referenceAllele": "A",
          "start": 1765
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028862",
      "geneNCBI_id": 25836,
      "geneSymbol": "NIPBL",
      "hgvs": [
        "XM_011514014.1:c.1278A>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011512316.1:p.Thr426="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS081240"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1766,
          "referenceAllele": "A",
          "start": 1765
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028862",
      "geneNCBI_id": 25836,
      "geneSymbol": "NIPBL",
      "hgvs": [
        "XM_011514015.1:c.1278A>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011512317.1:p.Thr426="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS081241"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1766,
          "referenceAllele": "A",
          "start": 1765
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028862",
      "geneNCBI_id": 25836,
      "geneSymbol": "NIPBL",
      "hgvs": [
        "XM_005248280.3:c.1278A>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_005248337.1:p.Thr426="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS533037"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1267,
          "referenceAllele": "A",
          "start": 1266
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028862",
      "geneNCBI_id": 25836,
      "geneSymbol": "NIPBL",
      "hgvs": [
        "XM_005248282.5:c.618A>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_005248339.3:p.Thr206="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS533038"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1766,
          "referenceAllele": "A",
          "start": 1765
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028862",
      "geneNCBI_id": 25836,
      "geneSymbol": "NIPBL",
      "hgvs": [
        "XM_006714468.2:c.1278A>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_006714531.1:p.Thr426="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS538720"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1766,
          "referenceAllele": "A",
          "start": 1765
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028862",
      "geneNCBI_id": 25836,
      "geneSymbol": "NIPBL",
      "hgvs": [
        "XM_017009329.1:c.1278A>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_016864818.1:p.Thr426="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS563672"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1766,
          "referenceAllele": "A",
          "start": 1765
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028862",
      "geneNCBI_id": 25836,
      "geneSymbol": "NIPBL",
      "hgvs": [
        "XM_017009331.1:c.1278A>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_016864820.1:p.Thr426="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS563674"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2830227819",
      "coordinates": [
        {
          "allele": "C",
          "end": 1767,
          "referenceAllele": "A",
          "start": 1766
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028862",
      "geneNCBI_id": 25836,
      "geneSymbol": "NIPBL",
      "hgvs": [
        "NM_133433.4:c.1278A>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_597677.2:p.Thr426="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS671832",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000282516.13:c.1278A>C"
          },
          "RefSeq": {
            "hgvs": "NM_133433.4:c.1278A>C"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000282516.8:p.Thr426="
          },
          "RefSeq": {
            "hgvs": "NP_597677.2:p.Thr426="
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829821487",
      "coordinates": [
        {
          "allele": "C",
          "end": 1767,
          "referenceAllele": "A",
          "start": 1766
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028862",
      "geneNCBI_id": 25836,
      "geneSymbol": "NIPBL",
      "hgvs": [
        "NM_015384.5:c.1278A>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_056199.2:p.Thr426="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS697529"
    }
  ],
  "type": "nucleotide"
}