{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA16618200",
  "communityStandardTitle": [
    "NM_133433.4(NIPBL):c.775G>A (p.Gly259Arg)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=406744[alleleid]",
        "alleleId": 406744,
        "preferredName": "NM_133433.4(NIPBL):c.775G>A (p.Gly259Arg)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/421167",
        "RCV": [
          "RCV000486290"
        ],
        "variationId": 421167
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr5:g.36972050G>A?assembly=hg19",
        "id": "chr5:g.36972050G>A"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr5:g.36971948G>A?assembly=hg38",
        "id": "chr5:g.36971948G>A"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/1064794954",
        "rs": 1064794954
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/5-36971948-G-A?dataset=gnomad_r4",
        "id": "5-36971948-G-A",
        "variant": "5:36971948 G / A"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "5",
      "coordinates": [
        {
          "allele": "A",
          "end": 36971948,
          "referenceAllele": "G",
          "start": 36971947
        }
      ],
      "hgvs": [
        "NC_000005.10:g.36971948G>A",
        "CM000667.2:g.36971948G>A"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000053"
    },
    {
      "chromosome": "5",
      "coordinates": [
        {
          "allele": "A",
          "end": 36972050,
          "referenceAllele": "G",
          "start": 36972049
        }
      ],
      "hgvs": [
        "NC_000005.9:g.36972050G>A",
        "CM000667.1:g.36972050G>A"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000029"
    },
    {
      "chromosome": "5",
      "coordinates": [
        {
          "allele": "A",
          "end": 37007807,
          "referenceAllele": "G",
          "start": 37007806
        }
      ],
      "hgvs": [
        "NC_000005.8:g.37007807G>A"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000005"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 100066,
          "referenceAllele": "G",
          "start": 100065
        }
      ],
      "hgvs": [
        "NG_006987.1:g.100066G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS000441"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 100066,
          "referenceAllele": "G",
          "start": 100065
        }
      ],
      "hgvs": [
        "NG_006987.2:g.100066G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS673476"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1264,
          "referenceAllele": "G",
          "start": 1263
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028862",
      "geneNCBI_id": 25836,
      "geneSymbol": "NIPBL",
      "hgvs": [
        "ENST00000282516.13:c.775G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000282516.8:p.Gly259Arg",
        "hgvsWellDefined": "ENSP00000282516.8:p.Gly259Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS743670",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000282516.13:c.775G>A"
          },
          "RefSeq": {
            "hgvs": "NM_133433.4:c.775G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000282516.8:p.Gly259Arg"
          },
          "RefSeq": {
            "hgvs": "NP_597677.2:p.Gly259Arg"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1192,
          "referenceAllele": "G",
          "start": 1191
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028862",
      "geneNCBI_id": 25836,
      "geneSymbol": "NIPBL",
      "hgvs": [
        "ENST00000652901.1:c.775G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000499536.1:p.Gly259Arg",
        "hgvsWellDefined": "ENSP00000499536.1:p.Gly259Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS772402"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1274,
          "referenceAllele": "G",
          "start": 1273
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028862",
      "geneNCBI_id": 25836,
      "geneSymbol": "NIPBL",
      "hgvs": [
        "ENST00000282516.12:c.775G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000282516.8:p.Gly259Arg",
        "hgvsWellDefined": "ENSP00000282516.8:p.Gly259Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS253093"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1243,
          "referenceAllele": "G",
          "start": 1242
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028862",
      "geneNCBI_id": 25836,
      "geneSymbol": "NIPBL",
      "hgvs": [
        "ENST00000448238.2:c.775G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000406266.2:p.Gly259Arg",
        "hgvsWellDefined": "ENSP00000406266.2:p.Gly259Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS299633"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 395,
          "referenceAllele": "G",
          "start": 394
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028862",
      "geneNCBI_id": 25836,
      "geneSymbol": "NIPBL",
      "hgvs": [
        "ENST00000504430.5:n.395G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS336488"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 754,
          "referenceAllele": "G",
          "start": 753
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028862",
      "geneNCBI_id": 25836,
      "geneSymbol": "NIPBL",
      "hgvs": [
        "ENST00000505998.5:n.754G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS337643"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 22,
          "endIntronDirection": "-",
          "endIntronOffset": 92629,
          "referenceAllele": "G",
          "start": 22,
          "startIntronDirection": "-",
          "startIntronOffset": 92630
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028862",
      "geneNCBI_id": 25836,
      "geneSymbol": "NIPBL",
      "hgvs": [
        "ENST00000621733.1:c.1-92630G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000480694.1:n.1-92630G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS405408"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829821391",
      "coordinates": [
        {
          "allele": "A",
          "end": 1274,
          "referenceAllele": "G",
          "start": 1273
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028862",
      "geneNCBI_id": 25836,
      "geneSymbol": "NIPBL",
      "hgvs": [
        "NM_015384.4:c.775G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_056199.2:p.Gly259Arg",
        "hgvsWellDefined": "NP_056199.2:p.Gly259Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS033980"
    },
    {
      "@id": "http://reg.genome.network/allele/PA645466892",
      "coordinates": [
        {
          "allele": "A",
          "end": 1274,
          "referenceAllele": "G",
          "start": 1273
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028862",
      "geneNCBI_id": 25836,
      "geneSymbol": "NIPBL",
      "hgvs": [
        "NM_133433.3:c.775G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_597677.2:p.Gly259Arg",
        "hgvsWellDefined": "NP_597677.2:p.Gly259Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS040510"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1263,
          "referenceAllele": "G",
          "start": 1262
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028862",
      "geneNCBI_id": 25836,
      "geneSymbol": "NIPBL",
      "hgvs": [
        "XM_005248280.2:c.775G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_005248337.1:p.Gly259Arg",
        "hgvsWellDefined": "XP_005248337.1:p.Gly259Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS058379"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 102,
          "referenceAllele": "G",
          "start": 101
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028862",
      "geneNCBI_id": 25836,
      "geneSymbol": "NIPBL",
      "hgvs": [
        "XM_005248282.3:c.31G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_005248339.2:p.Gly11Arg",
        "hgvsWellDefined": "XP_005248339.2:p.Gly11Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS058380"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1263,
          "referenceAllele": "G",
          "start": 1262
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028862",
      "geneNCBI_id": 25836,
      "geneSymbol": "NIPBL",
      "hgvs": [
        "XM_006714467.2:c.775G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_006714530.1:p.Gly259Arg",
        "hgvsWellDefined": "XP_006714530.1:p.Gly259Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS070673"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1263,
          "referenceAllele": "G",
          "start": 1262
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028862",
      "geneNCBI_id": 25836,
      "geneSymbol": "NIPBL",
      "hgvs": [
        "XM_006714468.1:c.775G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_006714531.1:p.Gly259Arg",
        "hgvsWellDefined": "XP_006714531.1:p.Gly259Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS070674"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1263,
          "referenceAllele": "G",
          "start": 1262
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028862",
      "geneNCBI_id": 25836,
      "geneSymbol": "NIPBL",
      "hgvs": [
        "XM_011514014.1:c.775G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011512316.1:p.Gly259Arg",
        "hgvsWellDefined": "XP_011512316.1:p.Gly259Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS081240"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1263,
          "referenceAllele": "G",
          "start": 1262
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028862",
      "geneNCBI_id": 25836,
      "geneSymbol": "NIPBL",
      "hgvs": [
        "XM_011514015.1:c.775G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011512317.1:p.Gly259Arg",
        "hgvsWellDefined": "XP_011512317.1:p.Gly259Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS081241"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1263,
          "referenceAllele": "G",
          "start": 1262
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028862",
      "geneNCBI_id": 25836,
      "geneSymbol": "NIPBL",
      "hgvs": [
        "XM_005248280.3:c.775G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_005248337.1:p.Gly259Arg",
        "hgvsWellDefined": "XP_005248337.1:p.Gly259Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS533037"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 764,
          "referenceAllele": "G",
          "start": 763
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028862",
      "geneNCBI_id": 25836,
      "geneSymbol": "NIPBL",
      "hgvs": [
        "XM_005248282.5:c.115G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_005248339.3:p.Gly39Arg",
        "hgvsWellDefined": "XP_005248339.3:p.Gly39Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS533038"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1263,
          "referenceAllele": "G",
          "start": 1262
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028862",
      "geneNCBI_id": 25836,
      "geneSymbol": "NIPBL",
      "hgvs": [
        "XM_006714468.2:c.775G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_006714531.1:p.Gly259Arg",
        "hgvsWellDefined": "XP_006714531.1:p.Gly259Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS538720"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1263,
          "referenceAllele": "G",
          "start": 1262
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028862",
      "geneNCBI_id": 25836,
      "geneSymbol": "NIPBL",
      "hgvs": [
        "XM_017009329.1:c.775G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_016864818.1:p.Gly259Arg",
        "hgvsWellDefined": "XP_016864818.1:p.Gly259Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS563672"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1263,
          "referenceAllele": "G",
          "start": 1262
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028862",
      "geneNCBI_id": 25836,
      "geneSymbol": "NIPBL",
      "hgvs": [
        "XM_017009331.1:c.775G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_016864820.1:p.Gly259Arg",
        "hgvsWellDefined": "XP_016864820.1:p.Gly259Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS563674"
    },
    {
      "@id": "http://reg.genome.network/allele/PA645466892",
      "coordinates": [
        {
          "allele": "A",
          "end": 1264,
          "referenceAllele": "G",
          "start": 1263
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028862",
      "geneNCBI_id": 25836,
      "geneSymbol": "NIPBL",
      "hgvs": [
        "NM_133433.4:c.775G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_597677.2:p.Gly259Arg",
        "hgvsWellDefined": "NP_597677.2:p.Gly259Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS671832",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000282516.13:c.775G>A"
          },
          "RefSeq": {
            "hgvs": "NM_133433.4:c.775G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000282516.8:p.Gly259Arg"
          },
          "RefSeq": {
            "hgvs": "NP_597677.2:p.Gly259Arg"
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829821391",
      "coordinates": [
        {
          "allele": "A",
          "end": 1264,
          "referenceAllele": "G",
          "start": 1263
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028862",
      "geneNCBI_id": 25836,
      "geneSymbol": "NIPBL",
      "hgvs": [
        "NM_015384.5:c.775G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_056199.2:p.Gly259Arg",
        "hgvsWellDefined": "NP_056199.2:p.Gly259Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS697529"
    }
  ],
  "type": "nucleotide"
}