{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA271971",
  "communityStandardTitle": [
    "NM_133433.4(NIPBL):c.145G>T (p.Glu49Ter)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=168305[alleleid]",
        "alleleId": 168305,
        "preferredName": "NM_133433.4(NIPBL):c.145G>T (p.Glu49Ter)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/159035",
        "RCV": [
          "RCV000146520"
        ],
        "variationId": 159035
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr5:g.36955654G>T?assembly=hg19",
        "id": "chr5:g.36955654G>T"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr5:g.36955552G>T?assembly=hg38",
        "id": "chr5:g.36955552G>T"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/587783886",
        "rs": 587783886
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "5",
      "coordinates": [
        {
          "allele": "T",
          "end": 36955552,
          "referenceAllele": "G",
          "start": 36955551
        }
      ],
      "hgvs": [
        "NC_000005.10:g.36955552G>T",
        "CM000667.2:g.36955552G>T"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000053"
    },
    {
      "chromosome": "5",
      "coordinates": [
        {
          "allele": "T",
          "end": 36955654,
          "referenceAllele": "G",
          "start": 36955653
        }
      ],
      "hgvs": [
        "NC_000005.9:g.36955654G>T",
        "CM000667.1:g.36955654G>T"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000029"
    },
    {
      "chromosome": "5",
      "coordinates": [
        {
          "allele": "T",
          "end": 36991411,
          "referenceAllele": "G",
          "start": 36991410
        }
      ],
      "hgvs": [
        "NC_000005.8:g.36991411G>T"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000005"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 83670,
          "referenceAllele": "G",
          "start": 83669
        }
      ],
      "hgvs": [
        "NG_006987.1:g.83670G>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS000441"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 83670,
          "referenceAllele": "G",
          "start": 83669
        }
      ],
      "hgvs": [
        "NG_006987.2:g.83670G>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS673476"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 634,
          "referenceAllele": "G",
          "start": 633
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028862",
      "geneNCBI_id": 25836,
      "geneSymbol": "NIPBL",
      "hgvs": [
        "ENST00000282516.13:c.145G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000282516.8:p.Glu49Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS743670",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000282516.13:c.145G>T"
          },
          "RefSeq": {
            "hgvs": "NM_133433.4:c.145G>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000282516.8:p.Glu49Ter"
          },
          "RefSeq": {
            "hgvs": "NP_597677.2:p.Glu49Ter"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 562,
          "referenceAllele": "G",
          "start": 561
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028862",
      "geneNCBI_id": 25836,
      "geneSymbol": "NIPBL",
      "hgvs": [
        "ENST00000652901.1:c.145G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000499536.1:p.Glu49Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS772402"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 644,
          "referenceAllele": "G",
          "start": 643
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028862",
      "geneNCBI_id": 25836,
      "geneSymbol": "NIPBL",
      "hgvs": [
        "ENST00000282516.12:c.145G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000282516.8:p.Glu49Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS253093"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 613,
          "referenceAllele": "G",
          "start": 612
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028862",
      "geneNCBI_id": 25836,
      "geneSymbol": "NIPBL",
      "hgvs": [
        "ENST00000448238.2:c.145G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000406266.2:p.Glu49Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS299633"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 124,
          "referenceAllele": "G",
          "start": 123
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028862",
      "geneNCBI_id": 25836,
      "geneSymbol": "NIPBL",
      "hgvs": [
        "ENST00000505998.5:n.124G>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS337643"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 22,
          "endIntronDirection": "+",
          "endIntronOffset": 78530,
          "referenceAllele": "G",
          "start": 22,
          "startIntronDirection": "+",
          "startIntronOffset": 78529
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028862",
      "geneNCBI_id": 25836,
      "geneSymbol": "NIPBL",
      "hgvs": [
        "ENST00000621733.1:c.-1+78530G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000480694.1:n.-1+78530G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS405408"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 644,
          "referenceAllele": "G",
          "start": 643
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028862",
      "geneNCBI_id": 25836,
      "geneSymbol": "NIPBL",
      "hgvs": [
        "NM_015384.4:c.145G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_056199.2:p.Glu49Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS033980"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 644,
          "referenceAllele": "G",
          "start": 643
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028862",
      "geneNCBI_id": 25836,
      "geneSymbol": "NIPBL",
      "hgvs": [
        "NM_133433.3:c.145G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_597677.2:p.Glu49Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS040510"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 633,
          "referenceAllele": "G",
          "start": 632
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028862",
      "geneNCBI_id": 25836,
      "geneSymbol": "NIPBL",
      "hgvs": [
        "XM_005248280.2:c.145G>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005248337.1:p.Glu49Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS058379"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 633,
          "referenceAllele": "G",
          "start": 632
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028862",
      "geneNCBI_id": 25836,
      "geneSymbol": "NIPBL",
      "hgvs": [
        "XM_006714467.2:c.145G>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_006714530.1:p.Glu49Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS070673"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 633,
          "referenceAllele": "G",
          "start": 632
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028862",
      "geneNCBI_id": 25836,
      "geneSymbol": "NIPBL",
      "hgvs": [
        "XM_006714468.1:c.145G>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_006714531.1:p.Glu49Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS070674"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 633,
          "referenceAllele": "G",
          "start": 632
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028862",
      "geneNCBI_id": 25836,
      "geneSymbol": "NIPBL",
      "hgvs": [
        "XM_011514014.1:c.145G>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011512316.1:p.Glu49Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS081240"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 633,
          "referenceAllele": "G",
          "start": 632
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028862",
      "geneNCBI_id": 25836,
      "geneSymbol": "NIPBL",
      "hgvs": [
        "XM_011514015.1:c.145G>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011512317.1:p.Glu49Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS081241"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 633,
          "referenceAllele": "G",
          "start": 632
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028862",
      "geneNCBI_id": 25836,
      "geneSymbol": "NIPBL",
      "hgvs": [
        "XM_005248280.3:c.145G>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005248337.1:p.Glu49Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS533037"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 633,
          "referenceAllele": "G",
          "start": 632
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028862",
      "geneNCBI_id": 25836,
      "geneSymbol": "NIPBL",
      "hgvs": [
        "XM_006714468.2:c.145G>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_006714531.1:p.Glu49Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS538720"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 633,
          "referenceAllele": "G",
          "start": 632
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028862",
      "geneNCBI_id": 25836,
      "geneSymbol": "NIPBL",
      "hgvs": [
        "XM_017009329.1:c.145G>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_016864818.1:p.Glu49Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS563672"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 633,
          "referenceAllele": "G",
          "start": 632
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028862",
      "geneNCBI_id": 25836,
      "geneSymbol": "NIPBL",
      "hgvs": [
        "XM_017009331.1:c.145G>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_016864820.1:p.Glu49Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS563674"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 634,
          "referenceAllele": "G",
          "start": 633
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028862",
      "geneNCBI_id": 25836,
      "geneSymbol": "NIPBL",
      "hgvs": [
        "NM_133433.4:c.145G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_597677.2:p.Glu49Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS671832",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000282516.13:c.145G>T"
          },
          "RefSeq": {
            "hgvs": "NM_133433.4:c.145G>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000282516.8:p.Glu49Ter"
          },
          "RefSeq": {
            "hgvs": "NP_597677.2:p.Glu49Ter"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 634,
          "referenceAllele": "G",
          "start": 633
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028862",
      "geneNCBI_id": 25836,
      "geneSymbol": "NIPBL",
      "hgvs": [
        "NM_015384.5:c.145G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_056199.2:p.Glu49Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS697529"
    }
  ],
  "type": "nucleotide"
}