{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA362290026",
  "communityStandardTitle": [
    "NM_022455.5(NSD1):c.26G>T (p.Arg9Ile)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=1706374[alleleid]",
        "alleleId": 1706374,
        "preferredName": "NM_022455.5(NSD1):c.26G>T (p.Arg9Ile)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/1708077",
        "RCV": [
          "RCV003232581"
        ],
        "variationId": 1708077
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr5:g.176562130G>T?assembly=hg19",
        "id": "chr5:g.176562130G>T"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr5:g.177135129G>T?assembly=hg38",
        "id": "chr5:g.177135129G>T"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/1756203781",
        "rs": 1756203781
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/5-177135129-G-T?dataset=gnomad_r3",
        "id": "5-177135129-G-T",
        "variant": "5:177135129 G / T"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/5-177135129-G-T?dataset=gnomad_r4",
        "id": "5-177135129-G-T",
        "variant": "5:177135129 G / T"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "5",
      "coordinates": [
        {
          "allele": "T",
          "end": 177135129,
          "referenceAllele": "G",
          "start": 177135128
        }
      ],
      "hgvs": [
        "NC_000005.10:g.177135129G>T",
        "CM000667.2:g.177135129G>T"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000053"
    },
    {
      "chromosome": "5",
      "coordinates": [
        {
          "allele": "T",
          "end": 176562130,
          "referenceAllele": "G",
          "start": 176562129
        }
      ],
      "hgvs": [
        "NC_000005.9:g.176562130G>T",
        "CM000667.1:g.176562130G>T"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000029"
    },
    {
      "chromosome": "5",
      "coordinates": [
        {
          "allele": "T",
          "end": 176494736,
          "referenceAllele": "G",
          "start": 176494735
        }
      ],
      "hgvs": [
        "NC_000005.8:g.176494736G>T"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000005"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 7051,
          "referenceAllele": "G",
          "start": 7050
        }
      ],
      "hgvs": [
        "NG_009821.1:g.7051G>T",
        "LRG_512:g.7051G>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001658"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 148,
          "referenceAllele": "G",
          "start": 147
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014234",
      "geneNCBI_id": 64324,
      "geneSymbol": "NSD1",
      "hgvs": [
        "ENST00000508896.7:c.-108G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000423372.3:n.-108G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914192"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 60,
          "referenceAllele": "G",
          "start": 59
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014234",
      "geneNCBI_id": 64324,
      "geneSymbol": "NSD1",
      "hgvs": [
        "ENST00000347982.9:c.-108G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000343209.5:n.-108G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS824051"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 119,
          "referenceAllele": "G",
          "start": 118
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014234",
      "geneNCBI_id": 64324,
      "geneSymbol": "NSD1",
      "hgvs": [
        "ENST00000354179.9:c.-108G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000346111.5:n.-108G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS824070"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 148,
          "referenceAllele": "G",
          "start": 147
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014234",
      "geneNCBI_id": 64324,
      "geneSymbol": "NSD1",
      "hgvs": [
        "ENST00000508896.6:c.-108G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000423372.2:n.-108G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS825543"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 142,
          "referenceAllele": "G",
          "start": 141
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014234",
      "geneNCBI_id": 64324,
      "geneSymbol": "NSD1",
      "hgvs": [
        "ENST00000510954.6:n.142G>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS825574"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 116,
          "referenceAllele": "G",
          "start": 115
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014234",
      "geneNCBI_id": 64324,
      "geneSymbol": "NSD1",
      "hgvs": [
        "ENST00000511258.6:c.-108G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000426428.2:n.-108G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS825578"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 78,
          "referenceAllele": "G",
          "start": 77
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014234",
      "geneNCBI_id": 64324,
      "geneSymbol": "NSD1",
      "hgvs": [
        "ENST00000686993.1:c.-108G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000510020.1:n.-108G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS830852"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 44,
          "referenceAllele": "G",
          "start": 43
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014234",
      "geneNCBI_id": 64324,
      "geneSymbol": "NSD1",
      "hgvs": [
        "ENST00000687453.1:c.26G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000508426.1:p.Arg9Ile",
        "hgvsWellDefined": "ENSP00000508426.1:p.Arg9Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS831094"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 228,
          "referenceAllele": "G",
          "start": 227
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014234",
      "geneNCBI_id": 64324,
      "geneSymbol": "NSD1",
      "hgvs": [
        "ENST00000689326.1:c.26G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000509594.1:p.Arg9Ile",
        "hgvsWellDefined": "ENSP00000509594.1:p.Arg9Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS832114"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 96,
          "referenceAllele": "G",
          "start": 95
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014234",
      "geneNCBI_id": 64324,
      "geneSymbol": "NSD1",
      "hgvs": [
        "ENST00000689345.1:c.-108G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000509711.1:n.-108G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS832121"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 173,
          "referenceAllele": "G",
          "start": 172
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014234",
      "geneNCBI_id": 64324,
      "geneSymbol": "NSD1",
      "hgvs": [
        "ENST00000689549.1:n.173G>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS832234"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 223,
          "referenceAllele": "G",
          "start": 222
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014234",
      "geneNCBI_id": 64324,
      "geneSymbol": "NSD1",
      "hgvs": [
        "ENST00000439151.7:c.26G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000395929.2:p.Arg9Ile",
        "hgvsWellDefined": "ENSP00000395929.2:p.Arg9Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS755732",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000439151.7:c.26G>T"
          },
          "RefSeq": {
            "hgvs": "NM_022455.5:c.26G>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000395929.2:p.Arg9Ile"
          },
          "RefSeq": {
            "hgvs": "NP_071900.2:p.Arg9Ile"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 60,
          "referenceAllele": "G",
          "start": 59
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014234",
      "geneNCBI_id": 64324,
      "geneSymbol": "NSD1",
      "hgvs": [
        "ENST00000347982.8:c.-42G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000343209.4:n.-42G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS262425"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 119,
          "referenceAllele": "G",
          "start": 118
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014234",
      "geneNCBI_id": 64324,
      "geneSymbol": "NSD1",
      "hgvs": [
        "ENST00000354179.8:c.-42G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000346111.4:n.-42G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS263032"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 71,
          "referenceAllele": "G",
          "start": 70
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014234",
      "geneNCBI_id": 64324,
      "geneSymbol": "NSD1",
      "hgvs": [
        "ENST00000439151.6:c.26G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000395929.2:p.Arg9Ile",
        "hgvsWellDefined": "ENSP00000395929.2:p.Arg9Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS295287"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 78,
          "referenceAllele": "G",
          "start": 77
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014234",
      "geneNCBI_id": 64324,
      "geneSymbol": "NSD1",
      "hgvs": [
        "ENST00000508896.5:c.-42G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000423372.1:n.-42G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS339804"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 119,
          "referenceAllele": "G",
          "start": 118
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014234",
      "geneNCBI_id": 64324,
      "geneSymbol": "NSD1",
      "hgvs": [
        "ENST00000510954.5:c.-42G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000423982.1:n.-42G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS341330"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 116,
          "referenceAllele": "G",
          "start": 115
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014234",
      "geneNCBI_id": 64324,
      "geneSymbol": "NSD1",
      "hgvs": [
        "ENST00000511258.5:c.-42G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000426428.1:n.-42G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS341565"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 173,
          "referenceAllele": "G",
          "start": 172
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014234",
      "geneNCBI_id": 64324,
      "geneSymbol": "NSD1",
      "hgvs": [
        "ENST00000512992.1:n.173G>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS342843"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 198,
          "referenceAllele": "G",
          "start": 197
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014234",
      "geneNCBI_id": 64324,
      "geneSymbol": "NSD1",
      "hgvs": [
        "ENST00000602285.1:n.198G>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS398131"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2580454121",
      "coordinates": [
        {
          "allele": "T",
          "end": 164,
          "referenceAllele": "G",
          "start": 163
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014234",
      "geneNCBI_id": 64324,
      "geneSymbol": "NSD1",
      "hgvs": [
        "NM_022455.4:c.26G>T",
        "LRG_512t1:c.26G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_071900.2:p.Arg9Ile",
        "hgvsWellDefined": "NP_071900.2:p.Arg9Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS037320"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 119,
          "referenceAllele": "G",
          "start": 118
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014234",
      "geneNCBI_id": 64324,
      "geneSymbol": "NSD1",
      "hgvs": [
        "NM_172349.2:c.-42G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_758859.1:n.-42G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS042727"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 173,
          "referenceAllele": "G",
          "start": 172
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014234",
      "geneNCBI_id": 64324,
      "geneSymbol": "NSD1",
      "hgvs": [
        "XM_005265959.1:c.26G>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005266016.1:p.Arg9Ile",
        "hgvsWellDefined": "XP_005266016.1:p.Arg9Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS064873"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 60,
          "referenceAllele": "G",
          "start": 59
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014234",
      "geneNCBI_id": 64324,
      "geneSymbol": "NSD1",
      "hgvs": [
        "XM_005265960.1:c.-42G>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005266017.1:n.-42G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS064874"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 78,
          "referenceAllele": "G",
          "start": 77
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014234",
      "geneNCBI_id": 64324,
      "geneSymbol": "NSD1",
      "hgvs": [
        "XM_005265961.1:c.-42G>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005266018.1:n.-42G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS064875"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 95,
          "referenceAllele": "G",
          "start": 94
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014234",
      "geneNCBI_id": 64324,
      "geneSymbol": "NSD1",
      "hgvs": [
        "XM_011534610.1:c.26G>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011532912.1:p.Arg9Ile",
        "hgvsWellDefined": "XP_011532912.1:p.Arg9Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS101622"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 66,
          "referenceAllele": "G",
          "start": 65
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014234",
      "geneNCBI_id": 64324,
      "geneSymbol": "NSD1",
      "hgvs": [
        "XM_011534611.1:c.26G>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011532913.1:p.Arg9Ile",
        "hgvsWellDefined": "XP_011532913.1:p.Arg9Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS101623"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 229,
          "referenceAllele": "G",
          "start": 228
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014234",
      "geneNCBI_id": 64324,
      "geneSymbol": "NSD1",
      "hgvs": [
        "XM_011534612.1:c.26G>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011532914.1:p.Arg9Ile",
        "hgvsWellDefined": "XP_011532914.1:p.Arg9Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS101624"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 232,
          "referenceAllele": "G",
          "start": 231
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014234",
      "geneNCBI_id": 64324,
      "geneSymbol": "NSD1",
      "hgvs": [
        "XM_011534614.1:c.26G>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011532916.1:p.Arg9Ile",
        "hgvsWellDefined": "XP_011532916.1:p.Arg9Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS101626"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 232,
          "referenceAllele": "G",
          "start": 231
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014234",
      "geneNCBI_id": 64324,
      "geneSymbol": "NSD1",
      "hgvs": [
        "XM_011534615.1:c.26G>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011532917.1:p.Arg9Ile",
        "hgvsWellDefined": "XP_011532917.1:p.Arg9Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS101627"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 233,
          "referenceAllele": "G",
          "start": 232
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014234",
      "geneNCBI_id": 64324,
      "geneSymbol": "NSD1",
      "hgvs": [
        "XM_011534616.1:c.26G>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011532918.1:p.Arg9Ile",
        "hgvsWellDefined": "XP_011532918.1:p.Arg9Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS101628"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 60,
          "referenceAllele": "G",
          "start": 59
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014234",
      "geneNCBI_id": 64324,
      "geneSymbol": "NSD1",
      "hgvs": [
        "NM_001365684.1:c.-42G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001352613.1:n.-42G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS524206"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 173,
          "referenceAllele": "G",
          "start": 172
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014234",
      "geneNCBI_id": 64324,
      "geneSymbol": "NSD1",
      "hgvs": [
        "XM_024446150.1:c.26G>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_024301918.1:p.Arg9Ile",
        "hgvsWellDefined": "XP_024301918.1:p.Arg9Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS579825"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 148,
          "referenceAllele": "G",
          "start": 147
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014234",
      "geneNCBI_id": 64324,
      "geneSymbol": "NSD1",
      "hgvs": [
        "XM_024446151.1:c.26G>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_024301919.1:p.Arg9Ile",
        "hgvsWellDefined": "XP_024301919.1:p.Arg9Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS579826"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 102,
          "referenceAllele": "G",
          "start": 101
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014234",
      "geneNCBI_id": 64324,
      "geneSymbol": "NSD1",
      "hgvs": [
        "XM_024446152.1:c.26G>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_024301920.1:p.Arg9Ile",
        "hgvsWellDefined": "XP_024301920.1:p.Arg9Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS579827"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 797,
          "referenceAllele": "G",
          "start": 796
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014234",
      "geneNCBI_id": 64324,
      "geneSymbol": "NSD1",
      "hgvs": [
        "XM_024446153.1:c.26G>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_024301921.1:p.Arg9Ile",
        "hgvsWellDefined": "XP_024301921.1:p.Arg9Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS579828"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 234,
          "referenceAllele": "G",
          "start": 233
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014234",
      "geneNCBI_id": 64324,
      "geneSymbol": "NSD1",
      "hgvs": [
        "XM_024446154.1:c.26G>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_024301922.1:p.Arg9Ile",
        "hgvsWellDefined": "XP_024301922.1:p.Arg9Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS579829"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 252,
          "referenceAllele": "G",
          "start": 251
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014234",
      "geneNCBI_id": 64324,
      "geneSymbol": "NSD1",
      "hgvs": [
        "XM_024446155.1:c.-42G>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_024301923.1:n.-42G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS579830"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 99,
          "referenceAllele": "G",
          "start": 98
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014234",
      "geneNCBI_id": 64324,
      "geneSymbol": "NSD1",
      "hgvs": [
        "XM_024446156.1:c.-42G>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_024301924.1:n.-42G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS579831"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 143,
          "referenceAllele": "G",
          "start": 142
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014234",
      "geneNCBI_id": 64324,
      "geneSymbol": "NSD1",
      "hgvs": [
        "XM_024446158.1:c.-42G>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_024301926.1:n.-42G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS579832"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 252,
          "referenceAllele": "G",
          "start": 251
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014234",
      "geneNCBI_id": 64324,
      "geneSymbol": "NSD1",
      "hgvs": [
        "XM_024446160.1:c.26G>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_024301928.1:p.Arg9Ile",
        "hgvsWellDefined": "XP_024301928.1:p.Arg9Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS579834"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 252,
          "referenceAllele": "G",
          "start": 251
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014234",
      "geneNCBI_id": 64324,
      "geneSymbol": "NSD1",
      "hgvs": [
        "XM_024446161.1:c.26G>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_024301929.1:p.Arg9Ile",
        "hgvsWellDefined": "XP_024301929.1:p.Arg9Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS579835"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2580454121",
      "coordinates": [
        {
          "allele": "T",
          "end": 223,
          "referenceAllele": "G",
          "start": 222
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014234",
      "geneNCBI_id": 64324,
      "geneSymbol": "NSD1",
      "hgvs": [
        "NM_022455.5:c.26G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_071900.2:p.Arg9Ile",
        "hgvsWellDefined": "NP_071900.2:p.Arg9Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS728582",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000439151.7:c.26G>T"
          },
          "RefSeq": {
            "hgvs": "NM_022455.5:c.26G>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000395929.2:p.Arg9Ile"
          },
          "RefSeq": {
            "hgvs": "NP_071900.2:p.Arg9Ile"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 183,
          "referenceAllele": "G",
          "start": 182
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014234",
      "geneNCBI_id": 64324,
      "geneSymbol": "NSD1",
      "hgvs": [
        "NM_172349.3:c.-42G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_758859.1:n.-42G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS729552"
    }
  ],
  "type": "nucleotide"
}