{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA362324344",
  "communityStandardTitle": [
    "NM_022455.5(NSD1):c.6613C>T (p.His2205Tyr)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=537785[alleleid]",
        "alleleId": 537785,
        "preferredName": "NM_022455.5(NSD1):c.6613C>T (p.His2205Tyr)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/547728",
        "RCV": [
          "RCV003231572"
        ],
        "variationId": 547728
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr5:g.176720982C>T?assembly=hg19",
        "id": "chr5:g.176720982C>T"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr5:g.177293981C>T?assembly=hg38",
        "id": "chr5:g.177293981C>T"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/1554207316",
        "rs": 1554207316
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "5",
      "coordinates": [
        {
          "allele": "T",
          "end": 177293981,
          "referenceAllele": "C",
          "start": 177293980
        }
      ],
      "hgvs": [
        "NC_000005.10:g.177293981C>T",
        "CM000667.2:g.177293981C>T"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000053"
    },
    {
      "chromosome": "5",
      "coordinates": [
        {
          "allele": "T",
          "end": 176720982,
          "referenceAllele": "C",
          "start": 176720981
        }
      ],
      "hgvs": [
        "NC_000005.9:g.176720982C>T",
        "CM000667.1:g.176720982C>T"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000029"
    },
    {
      "chromosome": "5",
      "coordinates": [
        {
          "allele": "T",
          "end": 176653588,
          "referenceAllele": "C",
          "start": 176653587
        }
      ],
      "hgvs": [
        "NC_000005.8:g.176653588C>T"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000005"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 165903,
          "referenceAllele": "C",
          "start": 165902
        }
      ],
      "hgvs": [
        "NG_009821.1:g.165903C>T",
        "LRG_512:g.165903C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001658"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 5995,
          "referenceAllele": "C",
          "start": 5994
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014234",
      "geneNCBI_id": 64324,
      "geneSymbol": "NSD1",
      "hgvs": [
        "ENST00000508896.7:c.5740C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000423372.3:p.His1914Tyr",
        "hgvsWellDefined": "ENSP00000423372.3:p.His1914Tyr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914192"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 5907,
          "referenceAllele": "C",
          "start": 5906
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014234",
      "geneNCBI_id": 64324,
      "geneSymbol": "NSD1",
      "hgvs": [
        "ENST00000347982.9:c.5740C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000343209.5:p.His1914Tyr",
        "hgvsWellDefined": "ENSP00000343209.5:p.His1914Tyr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS824051"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 5966,
          "referenceAllele": "C",
          "start": 5965
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014234",
      "geneNCBI_id": 64324,
      "geneSymbol": "NSD1",
      "hgvs": [
        "ENST00000354179.9:c.5740C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000346111.5:p.His1914Tyr",
        "hgvsWellDefined": "ENSP00000346111.5:p.His1914Tyr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS824070"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1550,
          "referenceAllele": "C",
          "start": 1549
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014234",
      "geneNCBI_id": 64324,
      "geneSymbol": "NSD1",
      "hgvs": [
        "ENST00000503056.6:c.1255C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000424024.2:p.His419Tyr",
        "hgvsWellDefined": "ENSP00000424024.2:p.His419Tyr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS825500"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1714,
          "referenceAllele": "C",
          "start": 1713
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014234",
      "geneNCBI_id": 64324,
      "geneSymbol": "NSD1",
      "hgvs": [
        "ENST00000508029.6:c.1255C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000425120.2:p.His419Tyr",
        "hgvsWellDefined": "ENSP00000425120.2:p.His419Tyr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS825535"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 6196,
          "referenceAllele": "C",
          "start": 6195
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014234",
      "geneNCBI_id": 64324,
      "geneSymbol": "NSD1",
      "hgvs": [
        "ENST00000685206.1:n.6196C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS829942"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1029,
          "referenceAllele": "C",
          "start": 1028
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014234",
      "geneNCBI_id": 64324,
      "geneSymbol": "NSD1",
      "hgvs": [
        "ENST00000686385.1:n.1029C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS830545"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 5925,
          "referenceAllele": "C",
          "start": 5924
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014234",
      "geneNCBI_id": 64324,
      "geneSymbol": "NSD1",
      "hgvs": [
        "ENST00000686993.1:c.5740C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000510020.1:p.His1914Tyr",
        "hgvsWellDefined": "ENSP00000510020.1:p.His1914Tyr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS830852"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 6322,
          "referenceAllele": "C",
          "start": 6321
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014234",
      "geneNCBI_id": 64324,
      "geneSymbol": "NSD1",
      "hgvs": [
        "ENST00000687453.1:c.6304C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000508426.1:p.His2102Tyr",
        "hgvsWellDefined": "ENSP00000508426.1:p.His2102Tyr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS831094"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 6010,
          "referenceAllele": "C",
          "start": 6009
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014234",
      "geneNCBI_id": 64324,
      "geneSymbol": "NSD1",
      "hgvs": [
        "ENST00000688613.1:n.6010C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS831725"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 5943,
          "referenceAllele": "C",
          "start": 5942
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014234",
      "geneNCBI_id": 64324,
      "geneSymbol": "NSD1",
      "hgvs": [
        "ENST00000689345.1:c.5740C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000509711.1:p.His1914Tyr",
        "hgvsWellDefined": "ENSP00000509711.1:p.His1914Tyr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS832121"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 6810,
          "referenceAllele": "C",
          "start": 6809
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014234",
      "geneNCBI_id": 64324,
      "geneSymbol": "NSD1",
      "hgvs": [
        "ENST00000439151.7:c.6613C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000395929.2:p.His2205Tyr",
        "hgvsWellDefined": "ENSP00000395929.2:p.His2205Tyr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS755732",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000439151.7:c.6613C>T"
          },
          "RefSeq": {
            "hgvs": "NM_022455.5:c.6613C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000395929.2:p.His2205Tyr"
          },
          "RefSeq": {
            "hgvs": "NP_071900.2:p.His2205Tyr"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 5907,
          "referenceAllele": "C",
          "start": 5906
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014234",
      "geneNCBI_id": 64324,
      "geneSymbol": "NSD1",
      "hgvs": [
        "ENST00000347982.8:c.5806C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000343209.4:p.His1936Tyr",
        "hgvsWellDefined": "ENSP00000343209.4:p.His1936Tyr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS262425"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 5966,
          "referenceAllele": "C",
          "start": 5965
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014234",
      "geneNCBI_id": 64324,
      "geneSymbol": "NSD1",
      "hgvs": [
        "ENST00000354179.8:c.5806C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000346111.4:p.His1936Tyr",
        "hgvsWellDefined": "ENSP00000346111.4:p.His1936Tyr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS263032"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 6658,
          "referenceAllele": "C",
          "start": 6657
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014234",
      "geneNCBI_id": 64324,
      "geneSymbol": "NSD1",
      "hgvs": [
        "ENST00000439151.6:c.6613C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000395929.2:p.His2205Tyr",
        "hgvsWellDefined": "ENSP00000395929.2:p.His2205Tyr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS295287"
    },
    {
      "@id": "http://reg.genome.network/allele/PA658829339",
      "coordinates": [
        {
          "allele": "T",
          "end": 6751,
          "referenceAllele": "C",
          "start": 6750
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014234",
      "geneNCBI_id": 64324,
      "geneSymbol": "NSD1",
      "hgvs": [
        "NM_022455.4:c.6613C>T",
        "LRG_512t1:c.6613C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_071900.2:p.His2205Tyr",
        "hgvsWellDefined": "NP_071900.2:p.His2205Tyr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS037320"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 5966,
          "referenceAllele": "C",
          "start": 5965
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014234",
      "geneNCBI_id": 64324,
      "geneSymbol": "NSD1",
      "hgvs": [
        "NM_172349.2:c.5806C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_758859.1:p.His1936Tyr",
        "hgvsWellDefined": "NP_758859.1:p.His1936Tyr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS042727"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 6760,
          "referenceAllele": "C",
          "start": 6759
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014234",
      "geneNCBI_id": 64324,
      "geneSymbol": "NSD1",
      "hgvs": [
        "XM_005265959.1:c.6613C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005266016.1:p.His2205Tyr",
        "hgvsWellDefined": "XP_005266016.1:p.His2205Tyr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS064873"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 5907,
          "referenceAllele": "C",
          "start": 5906
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014234",
      "geneNCBI_id": 64324,
      "geneSymbol": "NSD1",
      "hgvs": [
        "XM_005265960.1:c.5806C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005266017.1:p.His1936Tyr",
        "hgvsWellDefined": "XP_005266017.1:p.His1936Tyr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS064874"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 5925,
          "referenceAllele": "C",
          "start": 5924
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014234",
      "geneNCBI_id": 64324,
      "geneSymbol": "NSD1",
      "hgvs": [
        "XM_005265961.1:c.5806C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005266018.1:p.His1936Tyr",
        "hgvsWellDefined": "XP_005266018.1:p.His1936Tyr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS064875"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2267,
          "referenceAllele": "C",
          "start": 2266
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014234",
      "geneNCBI_id": 64324,
      "geneSymbol": "NSD1",
      "hgvs": [
        "XM_005265962.3:c.2107C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005266019.1:p.His703Tyr",
        "hgvsWellDefined": "XP_005266019.1:p.His703Tyr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS064876"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 6682,
          "referenceAllele": "C",
          "start": 6681
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014234",
      "geneNCBI_id": 64324,
      "geneSymbol": "NSD1",
      "hgvs": [
        "XM_011534610.1:c.6613C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011532912.1:p.His2205Tyr",
        "hgvsWellDefined": "XP_011532912.1:p.His2205Tyr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS101622"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 6653,
          "referenceAllele": "C",
          "start": 6652
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014234",
      "geneNCBI_id": 64324,
      "geneSymbol": "NSD1",
      "hgvs": [
        "XM_011534611.1:c.6613C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011532913.1:p.His2205Tyr",
        "hgvsWellDefined": "XP_011532913.1:p.His2205Tyr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS101623"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 6396,
          "referenceAllele": "C",
          "start": 6395
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014234",
      "geneNCBI_id": 64324,
      "geneSymbol": "NSD1",
      "hgvs": [
        "XM_011534612.1:c.6193C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011532914.1:p.His2065Tyr",
        "hgvsWellDefined": "XP_011532914.1:p.His2065Tyr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS101624"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 5748,
          "referenceAllele": "C",
          "start": 5747
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014234",
      "geneNCBI_id": 64324,
      "geneSymbol": "NSD1",
      "hgvs": [
        "XM_011534613.1:c.5557C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011532915.1:p.His1853Tyr",
        "hgvsWellDefined": "XP_011532915.1:p.His1853Tyr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS101625"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2510,
          "referenceAllele": "C",
          "start": 2509
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014234",
      "geneNCBI_id": 64324,
      "geneSymbol": "NSD1",
      "hgvs": [
        "XM_011534617.1:c.2347C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011532919.1:p.His783Tyr",
        "hgvsWellDefined": "XP_011532919.1:p.His783Tyr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS101629"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 5907,
          "referenceAllele": "C",
          "start": 5906
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014234",
      "geneNCBI_id": 64324,
      "geneSymbol": "NSD1",
      "hgvs": [
        "NM_001365684.1:c.5806C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001352613.1:p.His1936Tyr",
        "hgvsWellDefined": "NP_001352613.1:p.His1936Tyr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS524206"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 6760,
          "referenceAllele": "C",
          "start": 6759
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014234",
      "geneNCBI_id": 64324,
      "geneSymbol": "NSD1",
      "hgvs": [
        "XM_024446150.1:c.6613C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_024301918.1:p.His2205Tyr",
        "hgvsWellDefined": "XP_024301918.1:p.His2205Tyr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS579825"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 6735,
          "referenceAllele": "C",
          "start": 6734
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014234",
      "geneNCBI_id": 64324,
      "geneSymbol": "NSD1",
      "hgvs": [
        "XM_024446151.1:c.6613C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_024301919.1:p.His2205Tyr",
        "hgvsWellDefined": "XP_024301919.1:p.His2205Tyr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS579826"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 6689,
          "referenceAllele": "C",
          "start": 6688
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014234",
      "geneNCBI_id": 64324,
      "geneSymbol": "NSD1",
      "hgvs": [
        "XM_024446152.1:c.6613C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_024301920.1:p.His2205Tyr",
        "hgvsWellDefined": "XP_024301920.1:p.His2205Tyr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS579827"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 7384,
          "referenceAllele": "C",
          "start": 7383
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014234",
      "geneNCBI_id": 64324,
      "geneSymbol": "NSD1",
      "hgvs": [
        "XM_024446153.1:c.6613C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_024301921.1:p.His2205Tyr",
        "hgvsWellDefined": "XP_024301921.1:p.His2205Tyr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS579828"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 6401,
          "referenceAllele": "C",
          "start": 6400
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014234",
      "geneNCBI_id": 64324,
      "geneSymbol": "NSD1",
      "hgvs": [
        "XM_024446154.1:c.6193C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_024301922.1:p.His2065Tyr",
        "hgvsWellDefined": "XP_024301922.1:p.His2065Tyr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS579829"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 6099,
          "referenceAllele": "C",
          "start": 6098
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014234",
      "geneNCBI_id": 64324,
      "geneSymbol": "NSD1",
      "hgvs": [
        "XM_024446155.1:c.5806C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_024301923.1:p.His1936Tyr",
        "hgvsWellDefined": "XP_024301923.1:p.His1936Tyr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS579830"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 5946,
          "referenceAllele": "C",
          "start": 5945
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014234",
      "geneNCBI_id": 64324,
      "geneSymbol": "NSD1",
      "hgvs": [
        "XM_024446156.1:c.5806C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_024301924.1:p.His1936Tyr",
        "hgvsWellDefined": "XP_024301924.1:p.His1936Tyr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS579831"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 5990,
          "referenceAllele": "C",
          "start": 5989
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014234",
      "geneNCBI_id": 64324,
      "geneSymbol": "NSD1",
      "hgvs": [
        "XM_024446158.1:c.5806C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_024301926.1:p.His1936Tyr",
        "hgvsWellDefined": "XP_024301926.1:p.His1936Tyr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS579832"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 5784,
          "referenceAllele": "C",
          "start": 5783
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014234",
      "geneNCBI_id": 64324,
      "geneSymbol": "NSD1",
      "hgvs": [
        "XM_024446159.1:c.5557C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_024301927.1:p.His1853Tyr",
        "hgvsWellDefined": "XP_024301927.1:p.His1853Tyr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS579833"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 5461,
          "referenceAllele": "C",
          "start": 5460
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014234",
      "geneNCBI_id": 64324,
      "geneSymbol": "NSD1",
      "hgvs": [
        "XM_024446162.1:c.2347C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_024301930.1:p.His783Tyr",
        "hgvsWellDefined": "XP_024301930.1:p.His783Tyr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS579836"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2271,
          "referenceAllele": "C",
          "start": 2270
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014234",
      "geneNCBI_id": 64324,
      "geneSymbol": "NSD1",
      "hgvs": [
        "XM_024446163.1:c.2107C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_024301931.1:p.His703Tyr",
        "hgvsWellDefined": "XP_024301931.1:p.His703Tyr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS579837"
    },
    {
      "@id": "http://reg.genome.network/allele/PA658829339",
      "coordinates": [
        {
          "allele": "T",
          "end": 6810,
          "referenceAllele": "C",
          "start": 6809
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014234",
      "geneNCBI_id": 64324,
      "geneSymbol": "NSD1",
      "hgvs": [
        "NM_022455.5:c.6613C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_071900.2:p.His2205Tyr",
        "hgvsWellDefined": "NP_071900.2:p.His2205Tyr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS728582",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000439151.7:c.6613C>T"
          },
          "RefSeq": {
            "hgvs": "NM_022455.5:c.6613C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000395929.2:p.His2205Tyr"
          },
          "RefSeq": {
            "hgvs": "NP_071900.2:p.His2205Tyr"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 6030,
          "referenceAllele": "C",
          "start": 6029
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014234",
      "geneNCBI_id": 64324,
      "geneSymbol": "NSD1",
      "hgvs": [
        "NM_172349.3:c.5806C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_758859.1:p.His1936Tyr",
        "hgvsWellDefined": "NP_758859.1:p.His1936Tyr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS729552"
    }
  ],
  "type": "nucleotide"
}