{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA294803",
  "communityStandardTitle": [
    "NM_022455.5(NSD1):c.1558G>A (p.Ala520Thr)"
  ],
  "externalRecords": {
    "COSMIC": [
      {
        "@id": "http://cancer.sanger.ac.uk/cosmic/mutation/overview?id=4384056",
        "active": true,
        "id": "COSM4384056"
      },
      {
        "@id": "http://cancer.sanger.ac.uk/cosmic/mutation/overview?id=4384057",
        "active": true,
        "id": "COSM4384057"
      }
    ],
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=168124[alleleid]",
        "alleleId": 168124,
        "preferredName": "NM_022455.5(NSD1):c.1558G>A (p.Ala520Thr)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/159269",
        "RCV": [
          "RCV003231173",
          "RCV001719919",
          "RCV002312966"
        ],
        "variationId": 159269
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/5-176636958-G-A",
        "id": "5-176636958-G-A",
        "variant": "5:176636958 G / A"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr5:g.176636958G>A?assembly=hg19",
        "id": "chr5:g.176636958G>A"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr5:g.177209957G>A?assembly=hg38",
        "id": "chr5:g.177209957G>A"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/559617787",
        "rs": 559617787
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/5-176636958-G-A?dataset=gnomad_r2_1",
        "id": "5-176636958-G-A",
        "variant": "5:176636958 G / A"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/5-177209957-G-A?dataset=gnomad_r3",
        "id": "5-177209957-G-A",
        "variant": "5:177209957 G / A"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/5-177209957-G-A?dataset=gnomad_r4",
        "id": "5-177209957-G-A",
        "variant": "5:177209957 G / A"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "5",
      "coordinates": [
        {
          "allele": "A",
          "end": 177209957,
          "referenceAllele": "G",
          "start": 177209956
        }
      ],
      "hgvs": [
        "NC_000005.10:g.177209957G>A",
        "CM000667.2:g.177209957G>A"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000053"
    },
    {
      "chromosome": "5",
      "coordinates": [
        {
          "allele": "A",
          "end": 176636958,
          "referenceAllele": "G",
          "start": 176636957
        }
      ],
      "hgvs": [
        "NC_000005.9:g.176636958G>A",
        "CM000667.1:g.176636958G>A"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000029"
    },
    {
      "chromosome": "5",
      "coordinates": [
        {
          "allele": "A",
          "end": 176569564,
          "referenceAllele": "G",
          "start": 176569563
        }
      ],
      "hgvs": [
        "NC_000005.8:g.176569564G>A"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000005"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 81879,
          "referenceAllele": "G",
          "start": 81878
        }
      ],
      "hgvs": [
        "NG_009821.1:g.81879G>A",
        "LRG_512:g.81879G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001658"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 940,
          "referenceAllele": "G",
          "start": 939
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014234",
      "geneNCBI_id": 64324,
      "geneSymbol": "NSD1",
      "hgvs": [
        "ENST00000508896.7:c.685G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000423372.3:p.Ala229Thr",
        "hgvsWellDefined": "ENSP00000423372.3:p.Ala229Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914192"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 852,
          "referenceAllele": "G",
          "start": 851
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014234",
      "geneNCBI_id": 64324,
      "geneSymbol": "NSD1",
      "hgvs": [
        "ENST00000347982.9:c.685G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000343209.5:p.Ala229Thr",
        "hgvsWellDefined": "ENSP00000343209.5:p.Ala229Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS824051"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 911,
          "referenceAllele": "G",
          "start": 910
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014234",
      "geneNCBI_id": 64324,
      "geneSymbol": "NSD1",
      "hgvs": [
        "ENST00000354179.9:c.685G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000346111.5:p.Ala229Thr",
        "hgvsWellDefined": "ENSP00000346111.5:p.Ala229Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS824070"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 940,
          "referenceAllele": "G",
          "start": 939
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014234",
      "geneNCBI_id": 64324,
      "geneSymbol": "NSD1",
      "hgvs": [
        "ENST00000508896.6:c.685G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000423372.2:p.Ala229Thr",
        "hgvsWellDefined": "ENSP00000423372.2:p.Ala229Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS825543"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 612,
          "endIntronDirection": "+",
          "endIntronOffset": 5665,
          "referenceAllele": "G",
          "start": 612,
          "startIntronDirection": "+",
          "startIntronOffset": 5664
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014234",
      "geneNCBI_id": 64324,
      "geneSymbol": "NSD1",
      "hgvs": [
        "ENST00000510954.6:n.612+5665G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS825574"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 790,
          "referenceAllele": "G",
          "start": 789
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014234",
      "geneNCBI_id": 64324,
      "geneSymbol": "NSD1",
      "hgvs": [
        "ENST00000638627.3:c.502G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000492679.3:p.Ala168Thr",
        "hgvsWellDefined": "ENSP00000492679.3:p.Ala168Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS826677"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1006,
          "referenceAllele": "G",
          "start": 1005
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014234",
      "geneNCBI_id": 64324,
      "geneSymbol": "NSD1",
      "hgvs": [
        "ENST00000644863.2:c.502G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000496157.2:p.Ala168Thr",
        "hgvsWellDefined": "ENSP00000496157.2:p.Ala168Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS826737"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1141,
          "referenceAllele": "G",
          "start": 1140
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014234",
      "geneNCBI_id": 64324,
      "geneSymbol": "NSD1",
      "hgvs": [
        "ENST00000685206.1:n.1141G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS829942"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 870,
          "referenceAllele": "G",
          "start": 869
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014234",
      "geneNCBI_id": 64324,
      "geneSymbol": "NSD1",
      "hgvs": [
        "ENST00000686993.1:c.685G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000510020.1:p.Ala229Thr",
        "hgvsWellDefined": "ENSP00000510020.1:p.Ala229Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS830852"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1267,
          "referenceAllele": "G",
          "start": 1266
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014234",
      "geneNCBI_id": 64324,
      "geneSymbol": "NSD1",
      "hgvs": [
        "ENST00000687453.1:c.1249G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000508426.1:p.Ala417Thr",
        "hgvsWellDefined": "ENSP00000508426.1:p.Ala417Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS831094"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 955,
          "referenceAllele": "G",
          "start": 954
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014234",
      "geneNCBI_id": 64324,
      "geneSymbol": "NSD1",
      "hgvs": [
        "ENST00000688613.1:n.955G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS831725"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1760,
          "referenceAllele": "G",
          "start": 1759
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014234",
      "geneNCBI_id": 64324,
      "geneSymbol": "NSD1",
      "hgvs": [
        "ENST00000689326.1:c.1558G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000509594.1:p.Ala520Thr",
        "hgvsWellDefined": "ENSP00000509594.1:p.Ala520Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS832114"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 888,
          "referenceAllele": "G",
          "start": 887
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014234",
      "geneNCBI_id": 64324,
      "geneSymbol": "NSD1",
      "hgvs": [
        "ENST00000689345.1:c.685G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000509711.1:p.Ala229Thr",
        "hgvsWellDefined": "ENSP00000509711.1:p.Ala229Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS832121"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1705,
          "referenceAllele": "G",
          "start": 1704
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014234",
      "geneNCBI_id": 64324,
      "geneSymbol": "NSD1",
      "hgvs": [
        "ENST00000689549.1:n.1705G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS832234"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1755,
          "referenceAllele": "G",
          "start": 1754
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014234",
      "geneNCBI_id": 64324,
      "geneSymbol": "NSD1",
      "hgvs": [
        "ENST00000439151.7:c.1558G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000395929.2:p.Ala520Thr",
        "hgvsWellDefined": "ENSP00000395929.2:p.Ala520Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS755732",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000439151.7:c.1558G>A"
          },
          "RefSeq": {
            "hgvs": "NM_022455.5:c.1558G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000395929.2:p.Ala520Thr"
          },
          "RefSeq": {
            "hgvs": "NP_071900.2:p.Ala520Thr"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 790,
          "referenceAllele": "G",
          "start": 789
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014234",
      "geneNCBI_id": 64324,
      "geneSymbol": "NSD1",
      "hgvs": [
        "ENST00000638627.2:c.*651G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000492679.2:n.*651G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS764624"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1006,
          "referenceAllele": "G",
          "start": 1005
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014234",
      "geneNCBI_id": 64324,
      "geneSymbol": "NSD1",
      "hgvs": [
        "ENST00000644863.1:c.*867G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000496157.1:n.*867G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS768039"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 852,
          "referenceAllele": "G",
          "start": 851
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014234",
      "geneNCBI_id": 64324,
      "geneSymbol": "NSD1",
      "hgvs": [
        "ENST00000347982.8:c.751G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000343209.4:p.Ala251Thr",
        "hgvsWellDefined": "ENSP00000343209.4:p.Ala251Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS262425"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 911,
          "referenceAllele": "G",
          "start": 910
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014234",
      "geneNCBI_id": 64324,
      "geneSymbol": "NSD1",
      "hgvs": [
        "ENST00000354179.8:c.751G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000346111.4:p.Ala251Thr",
        "hgvsWellDefined": "ENSP00000346111.4:p.Ala251Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS263032"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1603,
          "referenceAllele": "G",
          "start": 1602
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014234",
      "geneNCBI_id": 64324,
      "geneSymbol": "NSD1",
      "hgvs": [
        "ENST00000439151.6:c.1558G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000395929.2:p.Ala520Thr",
        "hgvsWellDefined": "ENSP00000395929.2:p.Ala520Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS295287"
    },
    {
      "@id": "http://reg.genome.network/allele/PA294805",
      "coordinates": [
        {
          "allele": "A",
          "end": 1696,
          "referenceAllele": "G",
          "start": 1695
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014234",
      "geneNCBI_id": 64324,
      "geneSymbol": "NSD1",
      "hgvs": [
        "NM_022455.4:c.1558G>A",
        "LRG_512t1:c.1558G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_071900.2:p.Ala520Thr",
        "hgvsWellDefined": "NP_071900.2:p.Ala520Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS037320"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 911,
          "referenceAllele": "G",
          "start": 910
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014234",
      "geneNCBI_id": 64324,
      "geneSymbol": "NSD1",
      "hgvs": [
        "NM_172349.2:c.751G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_758859.1:p.Ala251Thr",
        "hgvsWellDefined": "NP_758859.1:p.Ala251Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS042727"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1705,
          "referenceAllele": "G",
          "start": 1704
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014234",
      "geneNCBI_id": 64324,
      "geneSymbol": "NSD1",
      "hgvs": [
        "XM_005265959.1:c.1558G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_005266016.1:p.Ala520Thr",
        "hgvsWellDefined": "XP_005266016.1:p.Ala520Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS064873"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 852,
          "referenceAllele": "G",
          "start": 851
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014234",
      "geneNCBI_id": 64324,
      "geneSymbol": "NSD1",
      "hgvs": [
        "XM_005265960.1:c.751G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_005266017.1:p.Ala251Thr",
        "hgvsWellDefined": "XP_005266017.1:p.Ala251Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS064874"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 870,
          "referenceAllele": "G",
          "start": 869
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014234",
      "geneNCBI_id": 64324,
      "geneSymbol": "NSD1",
      "hgvs": [
        "XM_005265961.1:c.751G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_005266018.1:p.Ala251Thr",
        "hgvsWellDefined": "XP_005266018.1:p.Ala251Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS064875"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1627,
          "referenceAllele": "G",
          "start": 1626
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014234",
      "geneNCBI_id": 64324,
      "geneSymbol": "NSD1",
      "hgvs": [
        "XM_011534610.1:c.1558G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011532912.1:p.Ala520Thr",
        "hgvsWellDefined": "XP_011532912.1:p.Ala520Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS101622"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1598,
          "referenceAllele": "G",
          "start": 1597
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014234",
      "geneNCBI_id": 64324,
      "geneSymbol": "NSD1",
      "hgvs": [
        "XM_011534611.1:c.1558G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011532913.1:p.Ala520Thr",
        "hgvsWellDefined": "XP_011532913.1:p.Ala520Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS101623"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1341,
          "referenceAllele": "G",
          "start": 1340
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014234",
      "geneNCBI_id": 64324,
      "geneSymbol": "NSD1",
      "hgvs": [
        "XM_011534612.1:c.1138G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011532914.1:p.Ala380Thr",
        "hgvsWellDefined": "XP_011532914.1:p.Ala380Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS101624"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 693,
          "referenceAllele": "G",
          "start": 692
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014234",
      "geneNCBI_id": 64324,
      "geneSymbol": "NSD1",
      "hgvs": [
        "XM_011534613.1:c.502G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011532915.1:p.Ala168Thr",
        "hgvsWellDefined": "XP_011532915.1:p.Ala168Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS101625"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1764,
          "referenceAllele": "G",
          "start": 1763
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014234",
      "geneNCBI_id": 64324,
      "geneSymbol": "NSD1",
      "hgvs": [
        "XM_011534614.1:c.1558G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011532916.1:p.Ala520Thr",
        "hgvsWellDefined": "XP_011532916.1:p.Ala520Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS101626"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1764,
          "referenceAllele": "G",
          "start": 1763
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014234",
      "geneNCBI_id": 64324,
      "geneSymbol": "NSD1",
      "hgvs": [
        "XM_011534615.1:c.1558G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011532917.1:p.Ala520Thr",
        "hgvsWellDefined": "XP_011532917.1:p.Ala520Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS101627"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1765,
          "referenceAllele": "G",
          "start": 1764
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014234",
      "geneNCBI_id": 64324,
      "geneSymbol": "NSD1",
      "hgvs": [
        "XM_011534616.1:c.1558G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011532918.1:p.Ala520Thr",
        "hgvsWellDefined": "XP_011532918.1:p.Ala520Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS101628"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 852,
          "referenceAllele": "G",
          "start": 851
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014234",
      "geneNCBI_id": 64324,
      "geneSymbol": "NSD1",
      "hgvs": [
        "NM_001365684.1:c.751G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001352613.1:p.Ala251Thr",
        "hgvsWellDefined": "NP_001352613.1:p.Ala251Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS524206"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1705,
          "referenceAllele": "G",
          "start": 1704
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014234",
      "geneNCBI_id": 64324,
      "geneSymbol": "NSD1",
      "hgvs": [
        "XM_024446150.1:c.1558G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_024301918.1:p.Ala520Thr",
        "hgvsWellDefined": "XP_024301918.1:p.Ala520Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS579825"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1680,
          "referenceAllele": "G",
          "start": 1679
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014234",
      "geneNCBI_id": 64324,
      "geneSymbol": "NSD1",
      "hgvs": [
        "XM_024446151.1:c.1558G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_024301919.1:p.Ala520Thr",
        "hgvsWellDefined": "XP_024301919.1:p.Ala520Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS579826"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1634,
          "referenceAllele": "G",
          "start": 1633
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014234",
      "geneNCBI_id": 64324,
      "geneSymbol": "NSD1",
      "hgvs": [
        "XM_024446152.1:c.1558G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_024301920.1:p.Ala520Thr",
        "hgvsWellDefined": "XP_024301920.1:p.Ala520Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS579827"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2329,
          "referenceAllele": "G",
          "start": 2328
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014234",
      "geneNCBI_id": 64324,
      "geneSymbol": "NSD1",
      "hgvs": [
        "XM_024446153.1:c.1558G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_024301921.1:p.Ala520Thr",
        "hgvsWellDefined": "XP_024301921.1:p.Ala520Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS579828"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1346,
          "referenceAllele": "G",
          "start": 1345
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014234",
      "geneNCBI_id": 64324,
      "geneSymbol": "NSD1",
      "hgvs": [
        "XM_024446154.1:c.1138G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_024301922.1:p.Ala380Thr",
        "hgvsWellDefined": "XP_024301922.1:p.Ala380Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS579829"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1044,
          "referenceAllele": "G",
          "start": 1043
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014234",
      "geneNCBI_id": 64324,
      "geneSymbol": "NSD1",
      "hgvs": [
        "XM_024446155.1:c.751G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_024301923.1:p.Ala251Thr",
        "hgvsWellDefined": "XP_024301923.1:p.Ala251Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS579830"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 891,
          "referenceAllele": "G",
          "start": 890
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014234",
      "geneNCBI_id": 64324,
      "geneSymbol": "NSD1",
      "hgvs": [
        "XM_024446156.1:c.751G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_024301924.1:p.Ala251Thr",
        "hgvsWellDefined": "XP_024301924.1:p.Ala251Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS579831"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 935,
          "referenceAllele": "G",
          "start": 934
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014234",
      "geneNCBI_id": 64324,
      "geneSymbol": "NSD1",
      "hgvs": [
        "XM_024446158.1:c.751G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_024301926.1:p.Ala251Thr",
        "hgvsWellDefined": "XP_024301926.1:p.Ala251Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS579832"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 729,
          "referenceAllele": "G",
          "start": 728
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014234",
      "geneNCBI_id": 64324,
      "geneSymbol": "NSD1",
      "hgvs": [
        "XM_024446159.1:c.502G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_024301927.1:p.Ala168Thr",
        "hgvsWellDefined": "XP_024301927.1:p.Ala168Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS579833"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1784,
          "referenceAllele": "G",
          "start": 1783
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014234",
      "geneNCBI_id": 64324,
      "geneSymbol": "NSD1",
      "hgvs": [
        "XM_024446160.1:c.1558G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_024301928.1:p.Ala520Thr",
        "hgvsWellDefined": "XP_024301928.1:p.Ala520Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS579834"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1784,
          "referenceAllele": "G",
          "start": 1783
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014234",
      "geneNCBI_id": 64324,
      "geneSymbol": "NSD1",
      "hgvs": [
        "XM_024446161.1:c.1558G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_024301929.1:p.Ala520Thr",
        "hgvsWellDefined": "XP_024301929.1:p.Ala520Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS579835"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 677,
          "referenceAllele": "G",
          "start": 676
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014234",
      "geneNCBI_id": 64324,
      "geneSymbol": "NSD1",
      "hgvs": [
        "XM_024446162.1:c.-2438G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_024301930.1:n.-2438G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS579836"
    },
    {
      "@id": "http://reg.genome.network/allele/PA294805",
      "coordinates": [
        {
          "allele": "A",
          "end": 1755,
          "referenceAllele": "G",
          "start": 1754
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014234",
      "geneNCBI_id": 64324,
      "geneSymbol": "NSD1",
      "hgvs": [
        "NM_022455.5:c.1558G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_071900.2:p.Ala520Thr",
        "hgvsWellDefined": "NP_071900.2:p.Ala520Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS728582",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000439151.7:c.1558G>A"
          },
          "RefSeq": {
            "hgvs": "NM_022455.5:c.1558G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000395929.2:p.Ala520Thr"
          },
          "RefSeq": {
            "hgvs": "NP_071900.2:p.Ala520Thr"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 975,
          "referenceAllele": "G",
          "start": 974
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014234",
      "geneNCBI_id": 64324,
      "geneSymbol": "NSD1",
      "hgvs": [
        "NM_172349.3:c.751G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_758859.1:p.Ala251Thr",
        "hgvsWellDefined": "NP_758859.1:p.Ala251Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS729552"
    }
  ],
  "type": "nucleotide"
}