{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA359504956",
  "communityStandardTitle": [
    "NM_133433.4(NIPBL):c.6491A>G (p.Asn2164Ser)"
  ],
  "externalRecords": {
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr5:g.37045692A>G?assembly=hg19",
        "id": "chr5:g.37045692A>G"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr5:g.37045590A>G?assembly=hg38",
        "id": "chr5:g.37045590A>G"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "5",
      "coordinates": [
        {
          "allele": "G",
          "end": 37045590,
          "referenceAllele": "A",
          "start": 37045589
        }
      ],
      "hgvs": [
        "NC_000005.10:g.37045590A>G",
        "CM000667.2:g.37045590A>G"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000053"
    },
    {
      "chromosome": "5",
      "coordinates": [
        {
          "allele": "G",
          "end": 37045692,
          "referenceAllele": "A",
          "start": 37045691
        }
      ],
      "hgvs": [
        "NC_000005.9:g.37045692A>G",
        "CM000667.1:g.37045692A>G"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000029"
    },
    {
      "chromosome": "5",
      "coordinates": [
        {
          "allele": "G",
          "end": 37081449,
          "referenceAllele": "A",
          "start": 37081448
        }
      ],
      "hgvs": [
        "NC_000005.8:g.37081449A>G"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000005"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 173708,
          "referenceAllele": "A",
          "start": 173707
        }
      ],
      "hgvs": [
        "NG_006987.1:g.173708A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS000441"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 173708,
          "referenceAllele": "A",
          "start": 173707
        }
      ],
      "hgvs": [
        "NG_006987.2:g.173708A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS673476"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 6980,
          "referenceAllele": "A",
          "start": 6979
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028862",
      "geneNCBI_id": 25836,
      "geneSymbol": "NIPBL",
      "hgvs": [
        "ENST00000282516.13:c.6491A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000282516.8:p.Asn2164Ser",
        "hgvsWellDefined": "ENSP00000282516.8:p.Asn2164Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS743670",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000282516.13:c.6491A>G"
          },
          "RefSeq": {
            "hgvs": "NM_133433.4:c.6491A>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000282516.8:p.Asn2164Ser"
          },
          "RefSeq": {
            "hgvs": "NP_597677.2:p.Asn2164Ser"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 6908,
          "referenceAllele": "A",
          "start": 6907
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028862",
      "geneNCBI_id": 25836,
      "geneSymbol": "NIPBL",
      "hgvs": [
        "ENST00000652901.1:c.6491A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000499536.1:p.Asn2164Ser",
        "hgvsWellDefined": "ENSP00000499536.1:p.Asn2164Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS772402"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 6990,
          "referenceAllele": "A",
          "start": 6989
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028862",
      "geneNCBI_id": 25836,
      "geneSymbol": "NIPBL",
      "hgvs": [
        "ENST00000282516.12:c.6491A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000282516.8:p.Asn2164Ser",
        "hgvsWellDefined": "ENSP00000282516.8:p.Asn2164Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS253093"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 6959,
          "referenceAllele": "A",
          "start": 6958
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028862",
      "geneNCBI_id": 25836,
      "geneSymbol": "NIPBL",
      "hgvs": [
        "ENST00000448238.2:c.6491A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000406266.2:p.Asn2164Ser",
        "hgvsWellDefined": "ENSP00000406266.2:p.Asn2164Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS299633"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 22,
          "endIntronDirection": "-",
          "endIntronOffset": 18987,
          "referenceAllele": "A",
          "start": 22,
          "startIntronDirection": "-",
          "startIntronOffset": 18988
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028862",
      "geneNCBI_id": 25836,
      "geneSymbol": "NIPBL",
      "hgvs": [
        "ENST00000621733.1:c.1-18988A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000480694.1:n.1-18988A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS405408"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 6990,
          "referenceAllele": "A",
          "start": 6989
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028862",
      "geneNCBI_id": 25836,
      "geneSymbol": "NIPBL",
      "hgvs": [
        "NM_015384.4:c.6491A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_056199.2:p.Asn2164Ser",
        "hgvsWellDefined": "NP_056199.2:p.Asn2164Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS033980"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 6990,
          "referenceAllele": "A",
          "start": 6989
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028862",
      "geneNCBI_id": 25836,
      "geneSymbol": "NIPBL",
      "hgvs": [
        "NM_133433.3:c.6491A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_597677.2:p.Asn2164Ser",
        "hgvsWellDefined": "NP_597677.2:p.Asn2164Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS040510"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 6979,
          "referenceAllele": "A",
          "start": 6978
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028862",
      "geneNCBI_id": 25836,
      "geneSymbol": "NIPBL",
      "hgvs": [
        "XM_005248280.2:c.6491A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_005248337.1:p.Asn2164Ser",
        "hgvsWellDefined": "XP_005248337.1:p.Asn2164Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS058379"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 5818,
          "referenceAllele": "A",
          "start": 5817
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028862",
      "geneNCBI_id": 25836,
      "geneSymbol": "NIPBL",
      "hgvs": [
        "XM_005248282.3:c.5747A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_005248339.2:p.Asn1916Ser",
        "hgvsWellDefined": "XP_005248339.2:p.Asn1916Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS058380"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 6979,
          "referenceAllele": "A",
          "start": 6978
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028862",
      "geneNCBI_id": 25836,
      "geneSymbol": "NIPBL",
      "hgvs": [
        "XM_006714467.2:c.6491A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_006714530.1:p.Asn2164Ser",
        "hgvsWellDefined": "XP_006714530.1:p.Asn2164Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS070673"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 6781,
          "referenceAllele": "A",
          "start": 6780
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028862",
      "geneNCBI_id": 25836,
      "geneSymbol": "NIPBL",
      "hgvs": [
        "XM_006714468.1:c.6293A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_006714531.1:p.Asn2098Ser",
        "hgvsWellDefined": "XP_006714531.1:p.Asn2098Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS070674"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 6598,
          "referenceAllele": "A",
          "start": 6597
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028862",
      "geneNCBI_id": 25836,
      "geneSymbol": "NIPBL",
      "hgvs": [
        "XM_011514014.1:c.6110A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011512316.1:p.Asn2037Ser",
        "hgvsWellDefined": "XP_011512316.1:p.Asn2037Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS081240"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 6979,
          "referenceAllele": "A",
          "start": 6978
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028862",
      "geneNCBI_id": 25836,
      "geneSymbol": "NIPBL",
      "hgvs": [
        "XM_011514015.1:c.6491A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011512317.1:p.Asn2164Ser",
        "hgvsWellDefined": "XP_011512317.1:p.Asn2164Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS081241"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 6979,
          "referenceAllele": "A",
          "start": 6978
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028862",
      "geneNCBI_id": 25836,
      "geneSymbol": "NIPBL",
      "hgvs": [
        "XM_005248280.3:c.6491A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_005248337.1:p.Asn2164Ser",
        "hgvsWellDefined": "XP_005248337.1:p.Asn2164Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS533037"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 6480,
          "referenceAllele": "A",
          "start": 6479
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028862",
      "geneNCBI_id": 25836,
      "geneSymbol": "NIPBL",
      "hgvs": [
        "XM_005248282.5:c.5831A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_005248339.3:p.Asn1944Ser",
        "hgvsWellDefined": "XP_005248339.3:p.Asn1944Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS533038"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 6781,
          "referenceAllele": "A",
          "start": 6780
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028862",
      "geneNCBI_id": 25836,
      "geneSymbol": "NIPBL",
      "hgvs": [
        "XM_006714468.2:c.6293A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_006714531.1:p.Asn2098Ser",
        "hgvsWellDefined": "XP_006714531.1:p.Asn2098Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS538720"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 6979,
          "referenceAllele": "A",
          "start": 6978
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028862",
      "geneNCBI_id": 25836,
      "geneSymbol": "NIPBL",
      "hgvs": [
        "XM_017009329.1:c.6491A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_016864818.1:p.Asn2164Ser",
        "hgvsWellDefined": "XP_016864818.1:p.Asn2164Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS563672"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 6604,
          "referenceAllele": "A",
          "start": 6603
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028862",
      "geneNCBI_id": 25836,
      "geneSymbol": "NIPBL",
      "hgvs": [
        "XM_017009330.2:c.4874A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_016864819.1:p.Asn1625Ser",
        "hgvsWellDefined": "XP_016864819.1:p.Asn1625Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS563673"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 5353,
          "referenceAllele": "A",
          "start": 5352
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028862",
      "geneNCBI_id": 25836,
      "geneSymbol": "NIPBL",
      "hgvs": [
        "XM_017009331.1:c.4865A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_016864820.1:p.Asn1622Ser",
        "hgvsWellDefined": "XP_016864820.1:p.Asn1622Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS563674"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 6980,
          "referenceAllele": "A",
          "start": 6979
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028862",
      "geneNCBI_id": 25836,
      "geneSymbol": "NIPBL",
      "hgvs": [
        "NM_133433.4:c.6491A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_597677.2:p.Asn2164Ser",
        "hgvsWellDefined": "NP_597677.2:p.Asn2164Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS671832",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000282516.13:c.6491A>G"
          },
          "RefSeq": {
            "hgvs": "NM_133433.4:c.6491A>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000282516.8:p.Asn2164Ser"
          },
          "RefSeq": {
            "hgvs": "NP_597677.2:p.Asn2164Ser"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 6980,
          "referenceAllele": "A",
          "start": 6979
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028862",
      "geneNCBI_id": 25836,
      "geneSymbol": "NIPBL",
      "hgvs": [
        "NM_015384.5:c.6491A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_056199.2:p.Asn2164Ser",
        "hgvsWellDefined": "NP_056199.2:p.Asn2164Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS697529"
    }
  ],
  "type": "nucleotide"
}