{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA399983221",
  "communityStandardTitle": [
    "NM_015443.4(KANSL1):c.12G>C (p.Met4Ile)"
  ],
  "externalRecords": {
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr17:g.44249498C>G?assembly=hg19",
        "id": "chr17:g.44249498C>G"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr17:g.46172132C>G?assembly=hg38",
        "id": "chr17:g.46172132C>G"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "17",
      "coordinates": [
        {
          "allele": "G",
          "end": 46172132,
          "referenceAllele": "C",
          "start": 46172131
        }
      ],
      "hgvs": [
        "NC_000017.11:g.46172132C>G",
        "CM000679.2:g.46172132C>G"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000065"
    },
    {
      "chromosome": "17",
      "coordinates": [
        {
          "allele": "G",
          "end": 44249498,
          "referenceAllele": "C",
          "start": 44249497
        }
      ],
      "hgvs": [
        "NC_000017.10:g.44249498C>G",
        "CM000679.1:g.44249498C>G"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000041"
    },
    {
      "chromosome": "17",
      "coordinates": [
        {
          "allele": "G",
          "end": 41605275,
          "referenceAllele": "C",
          "start": 41605274
        }
      ],
      "hgvs": [
        "NC_000017.9:g.41605275C>G"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000017"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 58243,
          "referenceAllele": "G",
          "start": 58242
        }
      ],
      "hgvs": [
        "NG_032784.1:g.58243G>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS005220"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 708,
          "referenceAllele": "G",
          "start": 707
        }
      ],
      "gene": "http://reg.genome.network/gene/GN024565",
      "geneNCBI_id": 284058,
      "geneSymbol": "KANSL1",
      "hgvs": [
        "ENST00000432791.7:c.12G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000387393.3:p.Met4Ile",
        "hgvsWellDefined": "ENSP00000387393.3:p.Met4Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS755424",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000432791.7:c.12G>C"
          },
          "RefSeq": {
            "hgvs": "NM_015443.4:c.12G>C"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000387393.3:p.Met4Ile"
          },
          "RefSeq": {
            "hgvs": "NP_056258.1:p.Met4Ile"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 253,
          "referenceAllele": "G",
          "start": 252
        }
      ],
      "gene": "http://reg.genome.network/gene/GN024565",
      "geneNCBI_id": 284058,
      "geneSymbol": "KANSL1",
      "hgvs": [
        "ENST00000571698.2:c.12G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000459330.2:p.Met4Ile",
        "hgvsWellDefined": "ENSP00000459330.2:p.Met4Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS760665"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 107,
          "referenceAllele": "G",
          "start": 106
        }
      ],
      "gene": "http://reg.genome.network/gene/GN024565",
      "geneNCBI_id": 284058,
      "geneSymbol": "KANSL1",
      "hgvs": [
        "ENST00000572904.6:c.12G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000461484.1:p.Met4Ile",
        "hgvsWellDefined": "ENSP00000461484.1:p.Met4Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS760699"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 284,
          "referenceAllele": "G",
          "start": 283
        }
      ],
      "gene": "http://reg.genome.network/gene/GN024565",
      "geneNCBI_id": 284058,
      "geneSymbol": "KANSL1",
      "hgvs": [
        "ENST00000574590.6:c.12G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000461812.2:p.Met4Ile",
        "hgvsWellDefined": "ENSP00000461812.2:p.Met4Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS760743"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 266,
          "referenceAllele": "G",
          "start": 265
        }
      ],
      "gene": "http://reg.genome.network/gene/GN024565",
      "geneNCBI_id": 284058,
      "geneSymbol": "KANSL1",
      "hgvs": [
        "ENST00000574655.6:n.266G>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS760745"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 262,
          "referenceAllele": "G",
          "start": 261
        }
      ],
      "gene": "http://reg.genome.network/gene/GN024565",
      "geneNCBI_id": 284058,
      "geneSymbol": "KANSL1",
      "hgvs": [
        "ENST00000575318.6:c.12G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000461299.1:p.Met4Ile",
        "hgvsWellDefined": "ENSP00000461299.1:p.Met4Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS760759"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 577,
          "referenceAllele": "G",
          "start": 576
        }
      ],
      "gene": "http://reg.genome.network/gene/GN024565",
      "geneNCBI_id": 284058,
      "geneSymbol": "KANSL1",
      "hgvs": [
        "ENST00000576739.2:c.12G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000459627.1:p.Met4Ile",
        "hgvsWellDefined": "ENSP00000459627.1:p.Met4Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS760791"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 256,
          "referenceAllele": "G",
          "start": 255
        }
      ],
      "gene": "http://reg.genome.network/gene/GN024565",
      "geneNCBI_id": 284058,
      "geneSymbol": "KANSL1",
      "hgvs": [
        "ENST00000638269.1:n.256G>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS764438"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 679,
          "referenceAllele": "G",
          "start": 678
        }
      ],
      "gene": "http://reg.genome.network/gene/GN024565",
      "geneNCBI_id": 284058,
      "geneSymbol": "KANSL1",
      "hgvs": [
        "ENST00000638275.1:c.12G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000492576.1:p.Met4Ile",
        "hgvsWellDefined": "ENSP00000492576.1:p.Met4Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS764443"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 116,
          "referenceAllele": "G",
          "start": 115
        }
      ],
      "gene": "http://reg.genome.network/gene/GN024565",
      "geneNCBI_id": 284058,
      "geneSymbol": "KANSL1",
      "hgvs": [
        "ENST00000638902.1:n.116G>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS764762"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 262,
          "referenceAllele": "G",
          "start": 261
        }
      ],
      "gene": "http://reg.genome.network/gene/GN024565",
      "geneNCBI_id": 284058,
      "geneSymbol": "KANSL1",
      "hgvs": [
        "ENST00000639099.1:n.262G>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS764866"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 267,
          "endIntronDirection": "+",
          "endIntronOffset": 51539,
          "referenceAllele": "G",
          "start": 267,
          "startIntronDirection": "+",
          "startIntronOffset": 51538
        }
      ],
      "gene": "http://reg.genome.network/gene/GN024565",
      "geneNCBI_id": 284058,
      "geneSymbol": "KANSL1",
      "hgvs": [
        "ENST00000639150.1:c.23+51539G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000491906.1:n.23+51539G>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS764892"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 262,
          "referenceAllele": "G",
          "start": 261
        }
      ],
      "gene": "http://reg.genome.network/gene/GN024565",
      "geneNCBI_id": 284058,
      "geneSymbol": "KANSL1",
      "hgvs": [
        "ENST00000639356.1:n.262G>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS764986"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 250,
          "referenceAllele": "G",
          "start": 249
        }
      ],
      "gene": "http://reg.genome.network/gene/GN024565",
      "geneNCBI_id": 284058,
      "geneSymbol": "KANSL1",
      "hgvs": [
        "ENST00000639375.1:n.250G>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS764995"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 52,
          "referenceAllele": "G",
          "start": 51
        }
      ],
      "gene": "http://reg.genome.network/gene/GN024565",
      "geneNCBI_id": 284058,
      "geneSymbol": "KANSL1",
      "hgvs": [
        "ENST00000639531.1:c.12G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000491765.1:p.Met4Ile",
        "hgvsWellDefined": "ENSP00000491765.1:p.Met4Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS765070"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 268,
          "referenceAllele": "G",
          "start": 267
        }
      ],
      "gene": "http://reg.genome.network/gene/GN024565",
      "geneNCBI_id": 284058,
      "geneSymbol": "KANSL1",
      "hgvs": [
        "ENST00000648792.1:c.12G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000497628.1:p.Met4Ile",
        "hgvsWellDefined": "ENSP00000497628.1:p.Met4Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS770178"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 483,
          "referenceAllele": "G",
          "start": 482
        }
      ],
      "gene": "http://reg.genome.network/gene/GN024565",
      "geneNCBI_id": 284058,
      "geneSymbol": "KANSL1",
      "hgvs": [
        "ENST00000262419.10:c.12G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000262419.6:p.Met4Ile",
        "hgvsWellDefined": "ENSP00000262419.6:p.Met4Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS251013"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 269,
          "referenceAllele": "G",
          "start": 268
        }
      ],
      "gene": "http://reg.genome.network/gene/GN024565",
      "geneNCBI_id": 284058,
      "geneSymbol": "KANSL1",
      "hgvs": [
        "ENST00000432791.5:c.12G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000387393.2:p.Met4Ile",
        "hgvsWellDefined": "ENSP00000387393.2:p.Met4Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS292241"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 231,
          "referenceAllele": "G",
          "start": 230
        }
      ],
      "gene": "http://reg.genome.network/gene/GN024565",
      "geneNCBI_id": 284058,
      "geneSymbol": "KANSL1",
      "hgvs": [
        "ENST00000571698.1:c.12G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000459330.1:p.Met4Ile",
        "hgvsWellDefined": "ENSP00000459330.1:p.Met4Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS382610"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 185,
          "referenceAllele": "G",
          "start": 184
        }
      ],
      "gene": "http://reg.genome.network/gene/GN024565",
      "geneNCBI_id": 284058,
      "geneSymbol": "KANSL1",
      "hgvs": [
        "ENST00000572904.5:c.12G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000461484.1:p.Met4Ile",
        "hgvsWellDefined": "ENSP00000461484.1:p.Met4Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS383091"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 239,
          "referenceAllele": "G",
          "start": 238
        }
      ],
      "gene": "http://reg.genome.network/gene/GN024565",
      "geneNCBI_id": 284058,
      "geneSymbol": "KANSL1",
      "hgvs": [
        "ENST00000574590.5:c.12G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000461812.1:p.Met4Ile",
        "hgvsWellDefined": "ENSP00000461812.1:p.Met4Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS383750"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 262,
          "referenceAllele": "G",
          "start": 261
        }
      ],
      "gene": "http://reg.genome.network/gene/GN024565",
      "geneNCBI_id": 284058,
      "geneSymbol": "KANSL1",
      "hgvs": [
        "ENST00000574655.5:c.12G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000459359.1:p.Met4Ile",
        "hgvsWellDefined": "ENSP00000459359.1:p.Met4Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS383772"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 46,
          "referenceAllele": "G",
          "start": 45
        }
      ],
      "gene": "http://reg.genome.network/gene/GN024565",
      "geneNCBI_id": 284058,
      "geneSymbol": "KANSL1",
      "hgvs": [
        "ENST00000575318.5:c.12G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000461299.1:p.Met4Ile",
        "hgvsWellDefined": "ENSP00000461299.1:p.Met4Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS384072"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 389,
          "referenceAllele": "G",
          "start": 388
        }
      ],
      "gene": "http://reg.genome.network/gene/GN024565",
      "geneNCBI_id": 284058,
      "geneSymbol": "KANSL1",
      "hgvs": [
        "ENST00000576739.1:c.12G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000459627.1:p.Met4Ile",
        "hgvsWellDefined": "ENSP00000459627.1:p.Met4Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS384588"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826184826",
      "coordinates": [
        {
          "allele": "C",
          "end": 269,
          "referenceAllele": "G",
          "start": 268
        }
      ],
      "gene": "http://reg.genome.network/gene/GN024565",
      "geneNCBI_id": 284058,
      "geneSymbol": "KANSL1",
      "hgvs": [
        "NM_001193465.1:c.12G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001180394.1:p.Met4Ile",
        "hgvsWellDefined": "NP_001180394.1:p.Met4Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS016402"
    },
    {
      "@id": "http://reg.genome.network/allele/PA645506080",
      "coordinates": [
        {
          "allele": "C",
          "end": 483,
          "referenceAllele": "G",
          "start": 482
        }
      ],
      "gene": "http://reg.genome.network/gene/GN024565",
      "geneNCBI_id": 284058,
      "geneSymbol": "KANSL1",
      "hgvs": [
        "NM_001193466.1:c.12G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001180395.1:p.Met4Ile",
        "hgvsWellDefined": "NP_001180395.1:p.Met4Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS016403"
    },
    {
      "@id": "http://reg.genome.network/allele/PA915983526",
      "coordinates": [
        {
          "allele": "C",
          "end": 185,
          "referenceAllele": "G",
          "start": 184
        }
      ],
      "gene": "http://reg.genome.network/gene/GN024565",
      "geneNCBI_id": 284058,
      "geneSymbol": "KANSL1",
      "hgvs": [
        "NM_015443.3:c.12G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_056258.1:p.Met4Ile",
        "hgvsWellDefined": "NP_056258.1:p.Met4Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS034023"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 269,
          "referenceAllele": "G",
          "start": 268
        }
      ],
      "gene": "http://reg.genome.network/gene/GN024565",
      "geneNCBI_id": 284058,
      "geneSymbol": "KANSL1",
      "hgvs": [
        "XM_006721823.1:c.12G>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_006721886.1:p.Met4Ile",
        "hgvsWellDefined": "XP_006721886.1:p.Met4Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS074271"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 460,
          "referenceAllele": "G",
          "start": 459
        }
      ],
      "gene": "http://reg.genome.network/gene/GN024565",
      "geneNCBI_id": 284058,
      "geneSymbol": "KANSL1",
      "hgvs": [
        "XM_006721824.2:c.12G>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_006721887.1:p.Met4Ile",
        "hgvsWellDefined": "XP_006721887.1:p.Met4Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS074272"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 460,
          "referenceAllele": "G",
          "start": 459
        }
      ],
      "gene": "http://reg.genome.network/gene/GN024565",
      "geneNCBI_id": 284058,
      "geneSymbol": "KANSL1",
      "hgvs": [
        "XM_011524628.1:c.12G>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011522930.1:p.Met4Ile",
        "hgvsWellDefined": "XP_011522930.1:p.Met4Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS091749"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 460,
          "referenceAllele": "G",
          "start": 459
        }
      ],
      "gene": "http://reg.genome.network/gene/GN024565",
      "geneNCBI_id": 284058,
      "geneSymbol": "KANSL1",
      "hgvs": [
        "XM_011524629.1:c.12G>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011522931.1:p.Met4Ile",
        "hgvsWellDefined": "XP_011522931.1:p.Met4Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS091750"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 460,
          "referenceAllele": "G",
          "start": 459
        }
      ],
      "gene": "http://reg.genome.network/gene/GN024565",
      "geneNCBI_id": 284058,
      "geneSymbol": "KANSL1",
      "hgvs": [
        "XM_011524630.1:c.12G>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011522932.1:p.Met4Ile",
        "hgvsWellDefined": "XP_011522932.1:p.Met4Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS091751"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 460,
          "referenceAllele": "G",
          "start": 459
        }
      ],
      "gene": "http://reg.genome.network/gene/GN024565",
      "geneNCBI_id": 284058,
      "geneSymbol": "KANSL1",
      "hgvs": [
        "XM_011524631.1:c.12G>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011522933.1:p.Met4Ile",
        "hgvsWellDefined": "XP_011522933.1:p.Met4Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS091752"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 265,
          "referenceAllele": "G",
          "start": 264
        }
      ],
      "gene": "http://reg.genome.network/gene/GN024565",
      "geneNCBI_id": 284058,
      "geneSymbol": "KANSL1",
      "hgvs": [
        "XM_006721823.2:c.12G>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_006721886.1:p.Met4Ile",
        "hgvsWellDefined": "XP_006721886.1:p.Met4Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS540390"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 578,
          "referenceAllele": "G",
          "start": 577
        }
      ],
      "gene": "http://reg.genome.network/gene/GN024565",
      "geneNCBI_id": 284058,
      "geneSymbol": "KANSL1",
      "hgvs": [
        "XM_006721824.4:c.12G>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_006721887.1:p.Met4Ile",
        "hgvsWellDefined": "XP_006721887.1:p.Met4Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS540391"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 578,
          "referenceAllele": "G",
          "start": 577
        }
      ],
      "gene": "http://reg.genome.network/gene/GN024565",
      "geneNCBI_id": 284058,
      "geneSymbol": "KANSL1",
      "hgvs": [
        "XM_011524628.3:c.12G>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011522930.1:p.Met4Ile",
        "hgvsWellDefined": "XP_011522930.1:p.Met4Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS547535"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 578,
          "referenceAllele": "G",
          "start": 577
        }
      ],
      "gene": "http://reg.genome.network/gene/GN024565",
      "geneNCBI_id": 284058,
      "geneSymbol": "KANSL1",
      "hgvs": [
        "XM_011524629.3:c.12G>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011522931.1:p.Met4Ile",
        "hgvsWellDefined": "XP_011522931.1:p.Met4Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS547536"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 578,
          "referenceAllele": "G",
          "start": 577
        }
      ],
      "gene": "http://reg.genome.network/gene/GN024565",
      "geneNCBI_id": 284058,
      "geneSymbol": "KANSL1",
      "hgvs": [
        "XM_011524630.3:c.12G>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011522932.1:p.Met4Ile",
        "hgvsWellDefined": "XP_011522932.1:p.Met4Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS547537"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 578,
          "referenceAllele": "G",
          "start": 577
        }
      ],
      "gene": "http://reg.genome.network/gene/GN024565",
      "geneNCBI_id": 284058,
      "geneSymbol": "KANSL1",
      "hgvs": [
        "XM_011524631.3:c.12G>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011522933.1:p.Met4Ile",
        "hgvsWellDefined": "XP_011522933.1:p.Met4Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS547538"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 265,
          "referenceAllele": "G",
          "start": 264
        }
      ],
      "gene": "http://reg.genome.network/gene/GN024565",
      "geneNCBI_id": 284058,
      "geneSymbol": "KANSL1",
      "hgvs": [
        "XM_017024488.2:c.12G>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_016879977.1:p.Met4Ile",
        "hgvsWellDefined": "XP_016879977.1:p.Met4Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS575048"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 380,
          "referenceAllele": "G",
          "start": 379
        }
      ],
      "gene": "http://reg.genome.network/gene/GN024565",
      "geneNCBI_id": 284058,
      "geneSymbol": "KANSL1",
      "hgvs": [
        "XM_017024489.1:c.12G>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_016879978.1:p.Met4Ile",
        "hgvsWellDefined": "XP_016879978.1:p.Met4Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS575049"
    },
    {
      "@id": "http://reg.genome.network/allele/PA645506080",
      "coordinates": [
        {
          "allele": "C",
          "end": 465,
          "referenceAllele": "G",
          "start": 464
        }
      ],
      "gene": "http://reg.genome.network/gene/GN024565",
      "geneNCBI_id": 284058,
      "geneSymbol": "KANSL1",
      "hgvs": [
        "NM_001193466.2:c.12G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001180395.1:p.Met4Ile",
        "hgvsWellDefined": "NP_001180395.1:p.Met4Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS679224"
    },
    {
      "@id": "http://reg.genome.network/allele/PA915983526",
      "coordinates": [
        {
          "allele": "C",
          "end": 708,
          "referenceAllele": "G",
          "start": 707
        }
      ],
      "gene": "http://reg.genome.network/gene/GN024565",
      "geneNCBI_id": 284058,
      "geneSymbol": "KANSL1",
      "hgvs": [
        "NM_015443.4:c.12G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_056258.1:p.Met4Ile",
        "hgvsWellDefined": "NP_056258.1:p.Met4Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS697543",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000432791.7:c.12G>C"
          },
          "RefSeq": {
            "hgvs": "NM_015443.4:c.12G>C"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000387393.3:p.Met4Ile"
          },
          "RefSeq": {
            "hgvs": "NP_056258.1:p.Met4Ile"
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826184826",
      "coordinates": [
        {
          "allele": "C",
          "end": 262,
          "referenceAllele": "G",
          "start": 261
        }
      ],
      "gene": "http://reg.genome.network/gene/GN024565",
      "geneNCBI_id": 284058,
      "geneSymbol": "KANSL1",
      "hgvs": [
        "NM_001193465.2:c.12G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001180394.1:p.Met4Ile",
        "hgvsWellDefined": "NP_001180394.1:p.Met4Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS713746"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828814633",
      "coordinates": [
        {
          "allele": "C",
          "end": 262,
          "referenceAllele": "G",
          "start": 261
        }
      ],
      "gene": "http://reg.genome.network/gene/GN024565",
      "geneNCBI_id": 284058,
      "geneSymbol": "KANSL1",
      "hgvs": [
        "NM_001379198.1:c.12G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001366127.1:p.Met4Ile",
        "hgvsWellDefined": "NP_001366127.1:p.Met4Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS721930"
    }
  ],
  "type": "nucleotide"
}