{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA362308331",
  "communityStandardTitle": [
    "NM_022455.5(NSD1):c.5510C>A (p.Ala1837Asp)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=3187764[alleleid]",
        "alleleId": 3187764,
        "preferredName": "NM_022455.5(NSD1):c.5510C>A (p.Ala1837Asp)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/3027455",
        "RCV": [
          "RCV003886317"
        ],
        "variationId": 3027455
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr5:g.176700673C>A?assembly=hg19",
        "id": "chr5:g.176700673C>A"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr5:g.177273672C>A?assembly=hg38",
        "id": "chr5:g.177273672C>A"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/2480749099",
        "rs": 2480749099
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "5",
      "coordinates": [
        {
          "allele": "A",
          "end": 177273672,
          "referenceAllele": "C",
          "start": 177273671
        }
      ],
      "hgvs": [
        "NC_000005.10:g.177273672C>A",
        "CM000667.2:g.177273672C>A"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000053"
    },
    {
      "chromosome": "5",
      "coordinates": [
        {
          "allele": "A",
          "end": 176700673,
          "referenceAllele": "C",
          "start": 176700672
        }
      ],
      "hgvs": [
        "NC_000005.9:g.176700673C>A",
        "CM000667.1:g.176700673C>A"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000029"
    },
    {
      "chromosome": "5",
      "coordinates": [
        {
          "allele": "A",
          "end": 176633279,
          "referenceAllele": "C",
          "start": 176633278
        }
      ],
      "hgvs": [
        "NC_000005.8:g.176633279C>A"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000005"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 145594,
          "referenceAllele": "C",
          "start": 145593
        }
      ],
      "hgvs": [
        "NG_009821.1:g.145594C>A",
        "LRG_512:g.145594C>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001658"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 4892,
          "referenceAllele": "C",
          "start": 4891
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014234",
      "geneNCBI_id": 64324,
      "geneSymbol": "NSD1",
      "hgvs": [
        "ENST00000508896.7:c.4637C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000423372.3:p.Ala1546Asp",
        "hgvsWellDefined": "ENSP00000423372.3:p.Ala1546Asp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914192"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 4804,
          "referenceAllele": "C",
          "start": 4803
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014234",
      "geneNCBI_id": 64324,
      "geneSymbol": "NSD1",
      "hgvs": [
        "ENST00000347982.9:c.4637C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000343209.5:p.Ala1546Asp",
        "hgvsWellDefined": "ENSP00000343209.5:p.Ala1546Asp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS824051"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 4863,
          "referenceAllele": "C",
          "start": 4862
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014234",
      "geneNCBI_id": 64324,
      "geneSymbol": "NSD1",
      "hgvs": [
        "ENST00000354179.9:c.4637C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000346111.5:p.Ala1546Asp",
        "hgvsWellDefined": "ENSP00000346111.5:p.Ala1546Asp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS824070"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 447,
          "referenceAllele": "C",
          "start": 446
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014234",
      "geneNCBI_id": 64324,
      "geneSymbol": "NSD1",
      "hgvs": [
        "ENST00000503056.6:c.152C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000424024.2:p.Ala51Asp",
        "hgvsWellDefined": "ENSP00000424024.2:p.Ala51Asp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS825500"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 611,
          "referenceAllele": "C",
          "start": 610
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014234",
      "geneNCBI_id": 64324,
      "geneSymbol": "NSD1",
      "hgvs": [
        "ENST00000508029.6:c.152C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000425120.2:p.Ala51Asp",
        "hgvsWellDefined": "ENSP00000425120.2:p.Ala51Asp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS825535"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 5093,
          "referenceAllele": "C",
          "start": 5092
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014234",
      "geneNCBI_id": 64324,
      "geneSymbol": "NSD1",
      "hgvs": [
        "ENST00000685206.1:n.5093C>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS829942"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 4822,
          "referenceAllele": "C",
          "start": 4821
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014234",
      "geneNCBI_id": 64324,
      "geneSymbol": "NSD1",
      "hgvs": [
        "ENST00000686993.1:c.4637C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000510020.1:p.Ala1546Asp",
        "hgvsWellDefined": "ENSP00000510020.1:p.Ala1546Asp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS830852"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 259,
          "referenceAllele": "C",
          "start": 258
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014234",
      "geneNCBI_id": 64324,
      "geneSymbol": "NSD1",
      "hgvs": [
        "ENST00000687095.1:n.259C>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS830907"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 5219,
          "referenceAllele": "C",
          "start": 5218
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014234",
      "geneNCBI_id": 64324,
      "geneSymbol": "NSD1",
      "hgvs": [
        "ENST00000687453.1:c.5201C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000508426.1:p.Ala1734Asp",
        "hgvsWellDefined": "ENSP00000508426.1:p.Ala1734Asp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS831094"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 4907,
          "referenceAllele": "C",
          "start": 4906
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014234",
      "geneNCBI_id": 64324,
      "geneSymbol": "NSD1",
      "hgvs": [
        "ENST00000688613.1:n.4907C>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS831725"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 4840,
          "referenceAllele": "C",
          "start": 4839
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014234",
      "geneNCBI_id": 64324,
      "geneSymbol": "NSD1",
      "hgvs": [
        "ENST00000689345.1:c.4637C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000509711.1:p.Ala1546Asp",
        "hgvsWellDefined": "ENSP00000509711.1:p.Ala1546Asp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS832121"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 5657,
          "referenceAllele": "C",
          "start": 5656
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014234",
      "geneNCBI_id": 64324,
      "geneSymbol": "NSD1",
      "hgvs": [
        "ENST00000689549.1:n.5657C>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS832234"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2429,
          "referenceAllele": "C",
          "start": 2428
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014234",
      "geneNCBI_id": 64324,
      "geneSymbol": "NSD1",
      "hgvs": [
        "ENST00000692024.1:n.2429C>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS833502"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 5707,
          "referenceAllele": "C",
          "start": 5706
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014234",
      "geneNCBI_id": 64324,
      "geneSymbol": "NSD1",
      "hgvs": [
        "ENST00000439151.7:c.5510C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000395929.2:p.Ala1837Asp",
        "hgvsWellDefined": "ENSP00000395929.2:p.Ala1837Asp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS755732",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000439151.7:c.5510C>A"
          },
          "RefSeq": {
            "hgvs": "NM_022455.5:c.5510C>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000395929.2:p.Ala1837Asp"
          },
          "RefSeq": {
            "hgvs": "NP_071900.2:p.Ala1837Asp"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 4804,
          "referenceAllele": "C",
          "start": 4803
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014234",
      "geneNCBI_id": 64324,
      "geneSymbol": "NSD1",
      "hgvs": [
        "ENST00000347982.8:c.4703C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000343209.4:p.Ala1568Asp",
        "hgvsWellDefined": "ENSP00000343209.4:p.Ala1568Asp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS262425"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 4863,
          "referenceAllele": "C",
          "start": 4862
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014234",
      "geneNCBI_id": 64324,
      "geneSymbol": "NSD1",
      "hgvs": [
        "ENST00000354179.8:c.4703C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000346111.4:p.Ala1568Asp",
        "hgvsWellDefined": "ENSP00000346111.4:p.Ala1568Asp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS263032"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 5555,
          "referenceAllele": "C",
          "start": 5554
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014234",
      "geneNCBI_id": 64324,
      "geneSymbol": "NSD1",
      "hgvs": [
        "ENST00000439151.6:c.5510C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000395929.2:p.Ala1837Asp",
        "hgvsWellDefined": "ENSP00000395929.2:p.Ala1837Asp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS295287"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 447,
          "referenceAllele": "C",
          "start": 446
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014234",
      "geneNCBI_id": 64324,
      "geneSymbol": "NSD1",
      "hgvs": [
        "ENST00000503056.5:c.152C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000424024.1:p.Ala51Asp",
        "hgvsWellDefined": "ENSP00000424024.1:p.Ala51Asp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS335467"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 507,
          "referenceAllele": "C",
          "start": 506
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014234",
      "geneNCBI_id": 64324,
      "geneSymbol": "NSD1",
      "hgvs": [
        "ENST00000515735.1:c.152C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000423048.1:p.Ala51Asp",
        "hgvsWellDefined": "ENSP00000423048.1:p.Ala51Asp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS344890"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2741981654",
      "coordinates": [
        {
          "allele": "A",
          "end": 5648,
          "referenceAllele": "C",
          "start": 5647
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014234",
      "geneNCBI_id": 64324,
      "geneSymbol": "NSD1",
      "hgvs": [
        "NM_022455.4:c.5510C>A",
        "LRG_512t1:c.5510C>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_071900.2:p.Ala1837Asp",
        "hgvsWellDefined": "NP_071900.2:p.Ala1837Asp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS037320"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 4863,
          "referenceAllele": "C",
          "start": 4862
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014234",
      "geneNCBI_id": 64324,
      "geneSymbol": "NSD1",
      "hgvs": [
        "NM_172349.2:c.4703C>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_758859.1:p.Ala1568Asp",
        "hgvsWellDefined": "NP_758859.1:p.Ala1568Asp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS042727"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 5657,
          "referenceAllele": "C",
          "start": 5656
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014234",
      "geneNCBI_id": 64324,
      "geneSymbol": "NSD1",
      "hgvs": [
        "XM_005265959.1:c.5510C>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_005266016.1:p.Ala1837Asp",
        "hgvsWellDefined": "XP_005266016.1:p.Ala1837Asp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS064873"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 4804,
          "referenceAllele": "C",
          "start": 4803
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014234",
      "geneNCBI_id": 64324,
      "geneSymbol": "NSD1",
      "hgvs": [
        "XM_005265960.1:c.4703C>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_005266017.1:p.Ala1568Asp",
        "hgvsWellDefined": "XP_005266017.1:p.Ala1568Asp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS064874"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 4822,
          "referenceAllele": "C",
          "start": 4821
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014234",
      "geneNCBI_id": 64324,
      "geneSymbol": "NSD1",
      "hgvs": [
        "XM_005265961.1:c.4703C>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_005266018.1:p.Ala1568Asp",
        "hgvsWellDefined": "XP_005266018.1:p.Ala1568Asp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS064875"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1164,
          "referenceAllele": "C",
          "start": 1163
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014234",
      "geneNCBI_id": 64324,
      "geneSymbol": "NSD1",
      "hgvs": [
        "XM_005265962.3:c.1004C>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_005266019.1:p.Ala335Asp",
        "hgvsWellDefined": "XP_005266019.1:p.Ala335Asp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS064876"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 5579,
          "referenceAllele": "C",
          "start": 5578
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014234",
      "geneNCBI_id": 64324,
      "geneSymbol": "NSD1",
      "hgvs": [
        "XM_011534610.1:c.5510C>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011532912.1:p.Ala1837Asp",
        "hgvsWellDefined": "XP_011532912.1:p.Ala1837Asp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS101622"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 5550,
          "referenceAllele": "C",
          "start": 5549
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014234",
      "geneNCBI_id": 64324,
      "geneSymbol": "NSD1",
      "hgvs": [
        "XM_011534611.1:c.5510C>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011532913.1:p.Ala1837Asp",
        "hgvsWellDefined": "XP_011532913.1:p.Ala1837Asp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS101623"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 5293,
          "referenceAllele": "C",
          "start": 5292
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014234",
      "geneNCBI_id": 64324,
      "geneSymbol": "NSD1",
      "hgvs": [
        "XM_011534612.1:c.5090C>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011532914.1:p.Ala1697Asp",
        "hgvsWellDefined": "XP_011532914.1:p.Ala1697Asp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS101624"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 4645,
          "referenceAllele": "C",
          "start": 4644
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014234",
      "geneNCBI_id": 64324,
      "geneSymbol": "NSD1",
      "hgvs": [
        "XM_011534613.1:c.4454C>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011532915.1:p.Ala1485Asp",
        "hgvsWellDefined": "XP_011532915.1:p.Ala1485Asp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS101625"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1407,
          "referenceAllele": "C",
          "start": 1406
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014234",
      "geneNCBI_id": 64324,
      "geneSymbol": "NSD1",
      "hgvs": [
        "XM_011534617.1:c.1244C>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011532919.1:p.Ala415Asp",
        "hgvsWellDefined": "XP_011532919.1:p.Ala415Asp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS101629"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 4804,
          "referenceAllele": "C",
          "start": 4803
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014234",
      "geneNCBI_id": 64324,
      "geneSymbol": "NSD1",
      "hgvs": [
        "NM_001365684.1:c.4703C>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001352613.1:p.Ala1568Asp",
        "hgvsWellDefined": "NP_001352613.1:p.Ala1568Asp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS524206"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 5657,
          "referenceAllele": "C",
          "start": 5656
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014234",
      "geneNCBI_id": 64324,
      "geneSymbol": "NSD1",
      "hgvs": [
        "XM_024446150.1:c.5510C>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_024301918.1:p.Ala1837Asp",
        "hgvsWellDefined": "XP_024301918.1:p.Ala1837Asp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS579825"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 5632,
          "referenceAllele": "C",
          "start": 5631
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014234",
      "geneNCBI_id": 64324,
      "geneSymbol": "NSD1",
      "hgvs": [
        "XM_024446151.1:c.5510C>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_024301919.1:p.Ala1837Asp",
        "hgvsWellDefined": "XP_024301919.1:p.Ala1837Asp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS579826"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 5586,
          "referenceAllele": "C",
          "start": 5585
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014234",
      "geneNCBI_id": 64324,
      "geneSymbol": "NSD1",
      "hgvs": [
        "XM_024446152.1:c.5510C>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_024301920.1:p.Ala1837Asp",
        "hgvsWellDefined": "XP_024301920.1:p.Ala1837Asp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS579827"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 6281,
          "referenceAllele": "C",
          "start": 6280
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014234",
      "geneNCBI_id": 64324,
      "geneSymbol": "NSD1",
      "hgvs": [
        "XM_024446153.1:c.5510C>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_024301921.1:p.Ala1837Asp",
        "hgvsWellDefined": "XP_024301921.1:p.Ala1837Asp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS579828"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 5298,
          "referenceAllele": "C",
          "start": 5297
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014234",
      "geneNCBI_id": 64324,
      "geneSymbol": "NSD1",
      "hgvs": [
        "XM_024446154.1:c.5090C>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_024301922.1:p.Ala1697Asp",
        "hgvsWellDefined": "XP_024301922.1:p.Ala1697Asp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS579829"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 4996,
          "referenceAllele": "C",
          "start": 4995
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014234",
      "geneNCBI_id": 64324,
      "geneSymbol": "NSD1",
      "hgvs": [
        "XM_024446155.1:c.4703C>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_024301923.1:p.Ala1568Asp",
        "hgvsWellDefined": "XP_024301923.1:p.Ala1568Asp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS579830"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 4843,
          "referenceAllele": "C",
          "start": 4842
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014234",
      "geneNCBI_id": 64324,
      "geneSymbol": "NSD1",
      "hgvs": [
        "XM_024446156.1:c.4703C>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_024301924.1:p.Ala1568Asp",
        "hgvsWellDefined": "XP_024301924.1:p.Ala1568Asp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS579831"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 4887,
          "referenceAllele": "C",
          "start": 4886
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014234",
      "geneNCBI_id": 64324,
      "geneSymbol": "NSD1",
      "hgvs": [
        "XM_024446158.1:c.4703C>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_024301926.1:p.Ala1568Asp",
        "hgvsWellDefined": "XP_024301926.1:p.Ala1568Asp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS579832"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 4681,
          "referenceAllele": "C",
          "start": 4680
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014234",
      "geneNCBI_id": 64324,
      "geneSymbol": "NSD1",
      "hgvs": [
        "XM_024446159.1:c.4454C>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_024301927.1:p.Ala1485Asp",
        "hgvsWellDefined": "XP_024301927.1:p.Ala1485Asp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS579833"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 4358,
          "referenceAllele": "C",
          "start": 4357
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014234",
      "geneNCBI_id": 64324,
      "geneSymbol": "NSD1",
      "hgvs": [
        "XM_024446162.1:c.1244C>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_024301930.1:p.Ala415Asp",
        "hgvsWellDefined": "XP_024301930.1:p.Ala415Asp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS579836"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1168,
          "referenceAllele": "C",
          "start": 1167
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014234",
      "geneNCBI_id": 64324,
      "geneSymbol": "NSD1",
      "hgvs": [
        "XM_024446163.1:c.1004C>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_024301931.1:p.Ala335Asp",
        "hgvsWellDefined": "XP_024301931.1:p.Ala335Asp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS579837"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2741981654",
      "coordinates": [
        {
          "allele": "A",
          "end": 5707,
          "referenceAllele": "C",
          "start": 5706
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014234",
      "geneNCBI_id": 64324,
      "geneSymbol": "NSD1",
      "hgvs": [
        "NM_022455.5:c.5510C>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_071900.2:p.Ala1837Asp",
        "hgvsWellDefined": "NP_071900.2:p.Ala1837Asp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS728582",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000439151.7:c.5510C>A"
          },
          "RefSeq": {
            "hgvs": "NM_022455.5:c.5510C>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000395929.2:p.Ala1837Asp"
          },
          "RefSeq": {
            "hgvs": "NP_071900.2:p.Ala1837Asp"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 4927,
          "referenceAllele": "C",
          "start": 4926
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014234",
      "geneNCBI_id": 64324,
      "geneSymbol": "NSD1",
      "hgvs": [
        "NM_172349.3:c.4703C>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_758859.1:p.Ala1568Asp",
        "hgvsWellDefined": "NP_758859.1:p.Ala1568Asp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS729552"
    }
  ],
  "type": "nucleotide"
}