{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA172669",
  "communityStandardTitle": [
    "NM_133433.4(NIPBL):c.2592T>A (p.Asp864Glu)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=105814[alleleid]",
        "alleleId": 105814,
        "preferredName": "NM_133433.4(NIPBL):c.2592T>A (p.Asp864Glu)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/99925",
        "RCV": [
          "RCV000146552",
          "RCV001157505"
        ],
        "variationId": 99925
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr5:g.36985874T>A?assembly=hg19",
        "id": "chr5:g.36985874T>A"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr5:g.36985772T>A?assembly=hg38",
        "id": "chr5:g.36985772T>A"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/80358365",
        "rs": 80358365
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/5-36985772-T-A?dataset=gnomad_r4",
        "id": "5-36985772-T-A",
        "variant": "5:36985772 T / A"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "5",
      "coordinates": [
        {
          "allele": "A",
          "end": 36985772,
          "referenceAllele": "T",
          "start": 36985771
        }
      ],
      "hgvs": [
        "NC_000005.10:g.36985772T>A",
        "CM000667.2:g.36985772T>A"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000053"
    },
    {
      "chromosome": "5",
      "coordinates": [
        {
          "allele": "A",
          "end": 36985874,
          "referenceAllele": "T",
          "start": 36985873
        }
      ],
      "hgvs": [
        "NC_000005.9:g.36985874T>A",
        "CM000667.1:g.36985874T>A"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000029"
    },
    {
      "chromosome": "5",
      "coordinates": [
        {
          "allele": "A",
          "end": 37021631,
          "referenceAllele": "T",
          "start": 37021630
        }
      ],
      "hgvs": [
        "NC_000005.8:g.37021631T>A"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000005"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 113890,
          "referenceAllele": "T",
          "start": 113889
        }
      ],
      "hgvs": [
        "NG_006987.1:g.113890T>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS000441"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 113890,
          "referenceAllele": "T",
          "start": 113889
        }
      ],
      "hgvs": [
        "NG_006987.2:g.113890T>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS673476"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3081,
          "referenceAllele": "T",
          "start": 3080
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028862",
      "geneNCBI_id": 25836,
      "geneSymbol": "NIPBL",
      "hgvs": [
        "ENST00000282516.13:c.2592T>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000282516.8:p.Asp864Glu",
        "hgvsWellDefined": "ENSP00000282516.8:p.Asp864Glu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS743670",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000282516.13:c.2592T>A"
          },
          "RefSeq": {
            "hgvs": "NM_133433.4:c.2592T>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000282516.8:p.Asp864Glu"
          },
          "RefSeq": {
            "hgvs": "NP_597677.2:p.Asp864Glu"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3009,
          "referenceAllele": "T",
          "start": 3008
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028862",
      "geneNCBI_id": 25836,
      "geneSymbol": "NIPBL",
      "hgvs": [
        "ENST00000652901.1:c.2592T>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000499536.1:p.Asp864Glu",
        "hgvsWellDefined": "ENSP00000499536.1:p.Asp864Glu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS772402"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3091,
          "referenceAllele": "T",
          "start": 3090
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028862",
      "geneNCBI_id": 25836,
      "geneSymbol": "NIPBL",
      "hgvs": [
        "ENST00000282516.12:c.2592T>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000282516.8:p.Asp864Glu",
        "hgvsWellDefined": "ENSP00000282516.8:p.Asp864Glu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS253093"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3060,
          "referenceAllele": "T",
          "start": 3059
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028862",
      "geneNCBI_id": 25836,
      "geneSymbol": "NIPBL",
      "hgvs": [
        "ENST00000448238.2:c.2592T>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000406266.2:p.Asp864Glu",
        "hgvsWellDefined": "ENSP00000406266.2:p.Asp864Glu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS299633"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2212,
          "referenceAllele": "T",
          "start": 2211
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028862",
      "geneNCBI_id": 25836,
      "geneSymbol": "NIPBL",
      "hgvs": [
        "ENST00000504430.5:n.2212T>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS336488"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 22,
          "endIntronDirection": "-",
          "endIntronOffset": 78805,
          "referenceAllele": "T",
          "start": 22,
          "startIntronDirection": "-",
          "startIntronOffset": 78806
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028862",
      "geneNCBI_id": 25836,
      "geneSymbol": "NIPBL",
      "hgvs": [
        "ENST00000621733.1:c.1-78806T>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000480694.1:n.1-78806T>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS405408"
    },
    {
      "@id": "http://reg.genome.network/allele/PA172670",
      "coordinates": [
        {
          "allele": "A",
          "end": 3091,
          "referenceAllele": "T",
          "start": 3090
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028862",
      "geneNCBI_id": 25836,
      "geneSymbol": "NIPBL",
      "hgvs": [
        "NM_015384.4:c.2592T>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_056199.2:p.Asp864Glu",
        "hgvsWellDefined": "NP_056199.2:p.Asp864Glu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS033980"
    },
    {
      "@id": "http://reg.genome.network/allele/PA172671",
      "coordinates": [
        {
          "allele": "A",
          "end": 3091,
          "referenceAllele": "T",
          "start": 3090
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028862",
      "geneNCBI_id": 25836,
      "geneSymbol": "NIPBL",
      "hgvs": [
        "NM_133433.3:c.2592T>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_597677.2:p.Asp864Glu",
        "hgvsWellDefined": "NP_597677.2:p.Asp864Glu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS040510"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3080,
          "referenceAllele": "T",
          "start": 3079
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028862",
      "geneNCBI_id": 25836,
      "geneSymbol": "NIPBL",
      "hgvs": [
        "XM_005248280.2:c.2592T>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_005248337.1:p.Asp864Glu",
        "hgvsWellDefined": "XP_005248337.1:p.Asp864Glu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS058379"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1919,
          "referenceAllele": "T",
          "start": 1918
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028862",
      "geneNCBI_id": 25836,
      "geneSymbol": "NIPBL",
      "hgvs": [
        "XM_005248282.3:c.1848T>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_005248339.2:p.Asp616Glu",
        "hgvsWellDefined": "XP_005248339.2:p.Asp616Glu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS058380"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3080,
          "referenceAllele": "T",
          "start": 3079
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028862",
      "geneNCBI_id": 25836,
      "geneSymbol": "NIPBL",
      "hgvs": [
        "XM_006714467.2:c.2592T>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_006714530.1:p.Asp864Glu",
        "hgvsWellDefined": "XP_006714530.1:p.Asp864Glu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS070673"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3080,
          "referenceAllele": "T",
          "start": 3079
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028862",
      "geneNCBI_id": 25836,
      "geneSymbol": "NIPBL",
      "hgvs": [
        "XM_006714468.1:c.2592T>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_006714531.1:p.Asp864Glu",
        "hgvsWellDefined": "XP_006714531.1:p.Asp864Glu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS070674"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3080,
          "referenceAllele": "T",
          "start": 3079
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028862",
      "geneNCBI_id": 25836,
      "geneSymbol": "NIPBL",
      "hgvs": [
        "XM_011514014.1:c.2592T>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011512316.1:p.Asp864Glu",
        "hgvsWellDefined": "XP_011512316.1:p.Asp864Glu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS081240"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3080,
          "referenceAllele": "T",
          "start": 3079
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028862",
      "geneNCBI_id": 25836,
      "geneSymbol": "NIPBL",
      "hgvs": [
        "XM_011514015.1:c.2592T>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011512317.1:p.Asp864Glu",
        "hgvsWellDefined": "XP_011512317.1:p.Asp864Glu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS081241"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3080,
          "referenceAllele": "T",
          "start": 3079
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028862",
      "geneNCBI_id": 25836,
      "geneSymbol": "NIPBL",
      "hgvs": [
        "XM_005248280.3:c.2592T>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_005248337.1:p.Asp864Glu",
        "hgvsWellDefined": "XP_005248337.1:p.Asp864Glu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS533037"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2581,
          "referenceAllele": "T",
          "start": 2580
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028862",
      "geneNCBI_id": 25836,
      "geneSymbol": "NIPBL",
      "hgvs": [
        "XM_005248282.5:c.1932T>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_005248339.3:p.Asp644Glu",
        "hgvsWellDefined": "XP_005248339.3:p.Asp644Glu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS533038"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3080,
          "referenceAllele": "T",
          "start": 3079
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028862",
      "geneNCBI_id": 25836,
      "geneSymbol": "NIPBL",
      "hgvs": [
        "XM_006714468.2:c.2592T>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_006714531.1:p.Asp864Glu",
        "hgvsWellDefined": "XP_006714531.1:p.Asp864Glu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS538720"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3080,
          "referenceAllele": "T",
          "start": 3079
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028862",
      "geneNCBI_id": 25836,
      "geneSymbol": "NIPBL",
      "hgvs": [
        "XM_017009329.1:c.2592T>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_016864818.1:p.Asp864Glu",
        "hgvsWellDefined": "XP_016864818.1:p.Asp864Glu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS563672"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2705,
          "referenceAllele": "T",
          "start": 2704
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028862",
      "geneNCBI_id": 25836,
      "geneSymbol": "NIPBL",
      "hgvs": [
        "XM_017009330.2:c.975T>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_016864819.1:p.Asp325Glu",
        "hgvsWellDefined": "XP_016864819.1:p.Asp325Glu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS563673"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1983,
          "endIntronDirection": "+",
          "endIntronOffset": 9370,
          "referenceAllele": "T",
          "start": 1983,
          "startIntronDirection": "+",
          "startIntronOffset": 9369
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028862",
      "geneNCBI_id": 25836,
      "geneSymbol": "NIPBL",
      "hgvs": [
        "XM_017009331.1:c.1495+9370T>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_016864820.1:n.1495+9370T>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS563674"
    },
    {
      "@id": "http://reg.genome.network/allele/PA172671",
      "coordinates": [
        {
          "allele": "A",
          "end": 3081,
          "referenceAllele": "T",
          "start": 3080
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028862",
      "geneNCBI_id": 25836,
      "geneSymbol": "NIPBL",
      "hgvs": [
        "NM_133433.4:c.2592T>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_597677.2:p.Asp864Glu",
        "hgvsWellDefined": "NP_597677.2:p.Asp864Glu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS671832",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000282516.13:c.2592T>A"
          },
          "RefSeq": {
            "hgvs": "NM_133433.4:c.2592T>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000282516.8:p.Asp864Glu"
          },
          "RefSeq": {
            "hgvs": "NP_597677.2:p.Asp864Glu"
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA172670",
      "coordinates": [
        {
          "allele": "A",
          "end": 3081,
          "referenceAllele": "T",
          "start": 3080
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028862",
      "geneNCBI_id": 25836,
      "geneSymbol": "NIPBL",
      "hgvs": [
        "NM_015384.5:c.2592T>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_056199.2:p.Asp864Glu",
        "hgvsWellDefined": "NP_056199.2:p.Asp864Glu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS697529"
    }
  ],
  "type": "nucleotide"
}