{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA359504830",
  "communityStandardTitle": [
    "NM_133433.4(NIPBL):c.6480T>A (p.Asp2160Glu)"
  ],
  "externalRecords": {
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr5:g.37045681T>A?assembly=hg19",
        "id": "chr5:g.37045681T>A"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr5:g.37045579T>A?assembly=hg38",
        "id": "chr5:g.37045579T>A"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "5",
      "coordinates": [
        {
          "allele": "A",
          "end": 37045579,
          "referenceAllele": "T",
          "start": 37045578
        }
      ],
      "hgvs": [
        "NC_000005.10:g.37045579T>A",
        "CM000667.2:g.37045579T>A"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000053"
    },
    {
      "chromosome": "5",
      "coordinates": [
        {
          "allele": "A",
          "end": 37045681,
          "referenceAllele": "T",
          "start": 37045680
        }
      ],
      "hgvs": [
        "NC_000005.9:g.37045681T>A",
        "CM000667.1:g.37045681T>A"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000029"
    },
    {
      "chromosome": "5",
      "coordinates": [
        {
          "allele": "A",
          "end": 37081438,
          "referenceAllele": "T",
          "start": 37081437
        }
      ],
      "hgvs": [
        "NC_000005.8:g.37081438T>A"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000005"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 173697,
          "referenceAllele": "T",
          "start": 173696
        }
      ],
      "hgvs": [
        "NG_006987.1:g.173697T>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS000441"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 173697,
          "referenceAllele": "T",
          "start": 173696
        }
      ],
      "hgvs": [
        "NG_006987.2:g.173697T>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS673476"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 6969,
          "referenceAllele": "T",
          "start": 6968
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028862",
      "geneNCBI_id": 25836,
      "geneSymbol": "NIPBL",
      "hgvs": [
        "ENST00000282516.13:c.6480T>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000282516.8:p.Asp2160Glu",
        "hgvsWellDefined": "ENSP00000282516.8:p.Asp2160Glu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS743670",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000282516.13:c.6480T>A"
          },
          "RefSeq": {
            "hgvs": "NM_133433.4:c.6480T>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000282516.8:p.Asp2160Glu"
          },
          "RefSeq": {
            "hgvs": "NP_597677.2:p.Asp2160Glu"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 6897,
          "referenceAllele": "T",
          "start": 6896
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028862",
      "geneNCBI_id": 25836,
      "geneSymbol": "NIPBL",
      "hgvs": [
        "ENST00000652901.1:c.6480T>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000499536.1:p.Asp2160Glu",
        "hgvsWellDefined": "ENSP00000499536.1:p.Asp2160Glu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS772402"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 6979,
          "referenceAllele": "T",
          "start": 6978
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028862",
      "geneNCBI_id": 25836,
      "geneSymbol": "NIPBL",
      "hgvs": [
        "ENST00000282516.12:c.6480T>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000282516.8:p.Asp2160Glu",
        "hgvsWellDefined": "ENSP00000282516.8:p.Asp2160Glu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS253093"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 6948,
          "referenceAllele": "T",
          "start": 6947
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028862",
      "geneNCBI_id": 25836,
      "geneSymbol": "NIPBL",
      "hgvs": [
        "ENST00000448238.2:c.6480T>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000406266.2:p.Asp2160Glu",
        "hgvsWellDefined": "ENSP00000406266.2:p.Asp2160Glu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS299633"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 22,
          "endIntronDirection": "-",
          "endIntronOffset": 18998,
          "referenceAllele": "T",
          "start": 22,
          "startIntronDirection": "-",
          "startIntronOffset": 18999
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028862",
      "geneNCBI_id": 25836,
      "geneSymbol": "NIPBL",
      "hgvs": [
        "ENST00000621733.1:c.1-18999T>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000480694.1:n.1-18999T>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS405408"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 6979,
          "referenceAllele": "T",
          "start": 6978
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028862",
      "geneNCBI_id": 25836,
      "geneSymbol": "NIPBL",
      "hgvs": [
        "NM_015384.4:c.6480T>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_056199.2:p.Asp2160Glu",
        "hgvsWellDefined": "NP_056199.2:p.Asp2160Glu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS033980"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 6979,
          "referenceAllele": "T",
          "start": 6978
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028862",
      "geneNCBI_id": 25836,
      "geneSymbol": "NIPBL",
      "hgvs": [
        "NM_133433.3:c.6480T>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_597677.2:p.Asp2160Glu",
        "hgvsWellDefined": "NP_597677.2:p.Asp2160Glu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS040510"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 6968,
          "referenceAllele": "T",
          "start": 6967
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028862",
      "geneNCBI_id": 25836,
      "geneSymbol": "NIPBL",
      "hgvs": [
        "XM_005248280.2:c.6480T>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_005248337.1:p.Asp2160Glu",
        "hgvsWellDefined": "XP_005248337.1:p.Asp2160Glu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS058379"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 5807,
          "referenceAllele": "T",
          "start": 5806
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028862",
      "geneNCBI_id": 25836,
      "geneSymbol": "NIPBL",
      "hgvs": [
        "XM_005248282.3:c.5736T>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_005248339.2:p.Asp1912Glu",
        "hgvsWellDefined": "XP_005248339.2:p.Asp1912Glu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS058380"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 6968,
          "referenceAllele": "T",
          "start": 6967
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028862",
      "geneNCBI_id": 25836,
      "geneSymbol": "NIPBL",
      "hgvs": [
        "XM_006714467.2:c.6480T>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_006714530.1:p.Asp2160Glu",
        "hgvsWellDefined": "XP_006714530.1:p.Asp2160Glu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS070673"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 6770,
          "referenceAllele": "T",
          "start": 6769
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028862",
      "geneNCBI_id": 25836,
      "geneSymbol": "NIPBL",
      "hgvs": [
        "XM_006714468.1:c.6282T>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_006714531.1:p.Asp2094Glu",
        "hgvsWellDefined": "XP_006714531.1:p.Asp2094Glu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS070674"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 6587,
          "referenceAllele": "T",
          "start": 6586
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028862",
      "geneNCBI_id": 25836,
      "geneSymbol": "NIPBL",
      "hgvs": [
        "XM_011514014.1:c.6099T>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011512316.1:p.Asp2033Glu",
        "hgvsWellDefined": "XP_011512316.1:p.Asp2033Glu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS081240"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 6968,
          "referenceAllele": "T",
          "start": 6967
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028862",
      "geneNCBI_id": 25836,
      "geneSymbol": "NIPBL",
      "hgvs": [
        "XM_011514015.1:c.6480T>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011512317.1:p.Asp2160Glu",
        "hgvsWellDefined": "XP_011512317.1:p.Asp2160Glu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS081241"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 6968,
          "referenceAllele": "T",
          "start": 6967
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028862",
      "geneNCBI_id": 25836,
      "geneSymbol": "NIPBL",
      "hgvs": [
        "XM_005248280.3:c.6480T>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_005248337.1:p.Asp2160Glu",
        "hgvsWellDefined": "XP_005248337.1:p.Asp2160Glu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS533037"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 6469,
          "referenceAllele": "T",
          "start": 6468
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028862",
      "geneNCBI_id": 25836,
      "geneSymbol": "NIPBL",
      "hgvs": [
        "XM_005248282.5:c.5820T>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_005248339.3:p.Asp1940Glu",
        "hgvsWellDefined": "XP_005248339.3:p.Asp1940Glu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS533038"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 6770,
          "referenceAllele": "T",
          "start": 6769
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028862",
      "geneNCBI_id": 25836,
      "geneSymbol": "NIPBL",
      "hgvs": [
        "XM_006714468.2:c.6282T>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_006714531.1:p.Asp2094Glu",
        "hgvsWellDefined": "XP_006714531.1:p.Asp2094Glu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS538720"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 6968,
          "referenceAllele": "T",
          "start": 6967
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028862",
      "geneNCBI_id": 25836,
      "geneSymbol": "NIPBL",
      "hgvs": [
        "XM_017009329.1:c.6480T>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_016864818.1:p.Asp2160Glu",
        "hgvsWellDefined": "XP_016864818.1:p.Asp2160Glu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS563672"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 6593,
          "referenceAllele": "T",
          "start": 6592
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028862",
      "geneNCBI_id": 25836,
      "geneSymbol": "NIPBL",
      "hgvs": [
        "XM_017009330.2:c.4863T>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_016864819.1:p.Asp1621Glu",
        "hgvsWellDefined": "XP_016864819.1:p.Asp1621Glu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS563673"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 5342,
          "referenceAllele": "T",
          "start": 5341
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028862",
      "geneNCBI_id": 25836,
      "geneSymbol": "NIPBL",
      "hgvs": [
        "XM_017009331.1:c.4854T>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_016864820.1:p.Asp1618Glu",
        "hgvsWellDefined": "XP_016864820.1:p.Asp1618Glu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS563674"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 6969,
          "referenceAllele": "T",
          "start": 6968
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028862",
      "geneNCBI_id": 25836,
      "geneSymbol": "NIPBL",
      "hgvs": [
        "NM_133433.4:c.6480T>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_597677.2:p.Asp2160Glu",
        "hgvsWellDefined": "NP_597677.2:p.Asp2160Glu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS671832",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000282516.13:c.6480T>A"
          },
          "RefSeq": {
            "hgvs": "NM_133433.4:c.6480T>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000282516.8:p.Asp2160Glu"
          },
          "RefSeq": {
            "hgvs": "NP_597677.2:p.Asp2160Glu"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 6969,
          "referenceAllele": "T",
          "start": 6968
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028862",
      "geneNCBI_id": 25836,
      "geneSymbol": "NIPBL",
      "hgvs": [
        "NM_015384.5:c.6480T>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_056199.2:p.Asp2160Glu",
        "hgvsWellDefined": "NP_056199.2:p.Asp2160Glu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS697529"
    }
  ],
  "type": "nucleotide"
}