{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA8618678",
  "communityStandardTitle": [
    "NM_015443.4(KANSL1):c.1945C>G (p.His649Asp)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=328901[alleleid]",
        "alleleId": 328901,
        "preferredName": "NM_015443.4(KANSL1):c.1945C>G (p.His649Asp)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/1426028",
        "RCV": [
          "RCV001927083",
          "RCV002561365"
        ],
        "variationId": 1426028
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/17-44127974-G-C",
        "id": "17-44127974-G-C",
        "variant": "17:44127974 G / C"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr17:g.44127974G>C?assembly=hg19",
        "id": "chr17:g.44127974G>C"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr17:g.46050608G>C?assembly=hg38",
        "id": "chr17:g.46050608G>C"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/759914921",
        "rs": 759914921
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/17-44127974-G-C?dataset=gnomad_r2_1",
        "id": "17-44127974-G-C",
        "variant": "17:44127974 G / C"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/17-46050608-G-C?dataset=gnomad_r3",
        "id": "17-46050608-G-C",
        "variant": "17:46050608 G / C"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/17-46050608-G-C?dataset=gnomad_r4",
        "id": "17-46050608-G-C",
        "variant": "17:46050608 G / C"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "17",
      "coordinates": [
        {
          "allele": "C",
          "end": 46050608,
          "referenceAllele": "G",
          "start": 46050607
        }
      ],
      "hgvs": [
        "NC_000017.11:g.46050608G>C",
        "CM000679.2:g.46050608G>C"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000065"
    },
    {
      "chromosome": "17",
      "coordinates": [
        {
          "allele": "C",
          "end": 44127974,
          "referenceAllele": "G",
          "start": 44127973
        }
      ],
      "hgvs": [
        "NC_000017.10:g.44127974G>C",
        "CM000679.1:g.44127974G>C"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000041"
    },
    {
      "chromosome": "17",
      "coordinates": [
        {
          "allele": "C",
          "end": 41483826,
          "referenceAllele": "G",
          "start": 41483825
        }
      ],
      "hgvs": [
        "NC_000017.9:g.41483826G>C"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000017"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 179767,
          "referenceAllele": "C",
          "start": 179766
        }
      ],
      "hgvs": [
        "NG_032784.1:g.179767C>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS005220"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2641,
          "referenceAllele": "C",
          "start": 2640
        }
      ],
      "gene": "http://reg.genome.network/gene/GN024565",
      "geneNCBI_id": 284058,
      "geneSymbol": "KANSL1",
      "hgvs": [
        "ENST00000432791.7:c.1945C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000387393.3:p.His649Asp",
        "hgvsWellDefined": "ENSP00000387393.3:p.His649Asp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS755424",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000432791.7:c.1945C>G"
          },
          "RefSeq": {
            "hgvs": "NM_015443.4:c.1945C>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000387393.3:p.His649Asp"
          },
          "RefSeq": {
            "hgvs": "NP_056258.1:p.His649Asp"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2186,
          "referenceAllele": "C",
          "start": 2185
        }
      ],
      "gene": "http://reg.genome.network/gene/GN024565",
      "geneNCBI_id": 284058,
      "geneSymbol": "KANSL1",
      "hgvs": [
        "ENST00000571698.2:c.1945C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000459330.2:p.His649Asp",
        "hgvsWellDefined": "ENSP00000459330.2:p.His649Asp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS760665"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2040,
          "referenceAllele": "C",
          "start": 2039
        }
      ],
      "gene": "http://reg.genome.network/gene/GN024565",
      "geneNCBI_id": 284058,
      "geneSymbol": "KANSL1",
      "hgvs": [
        "ENST00000572904.6:c.1945C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000461484.1:p.His649Asp",
        "hgvsWellDefined": "ENSP00000461484.1:p.His649Asp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS760699"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2217,
          "referenceAllele": "C",
          "start": 2216
        }
      ],
      "gene": "http://reg.genome.network/gene/GN024565",
      "geneNCBI_id": 284058,
      "geneSymbol": "KANSL1",
      "hgvs": [
        "ENST00000574590.6:c.1945C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000461812.2:p.His649Asp",
        "hgvsWellDefined": "ENSP00000461812.2:p.His649Asp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS760743"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2195,
          "referenceAllele": "C",
          "start": 2194
        }
      ],
      "gene": "http://reg.genome.network/gene/GN024565",
      "geneNCBI_id": 284058,
      "geneSymbol": "KANSL1",
      "hgvs": [
        "ENST00000575318.6:c.1945C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000461299.1:p.His649Asp",
        "hgvsWellDefined": "ENSP00000461299.1:p.His649Asp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS760759"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2612,
          "referenceAllele": "C",
          "start": 2611
        }
      ],
      "gene": "http://reg.genome.network/gene/GN024565",
      "geneNCBI_id": 284058,
      "geneSymbol": "KANSL1",
      "hgvs": [
        "ENST00000638275.1:c.1945C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000492576.1:p.His649Asp",
        "hgvsWellDefined": "ENSP00000492576.1:p.His649Asp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS764443"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 923,
          "referenceAllele": "C",
          "start": 922
        }
      ],
      "gene": "http://reg.genome.network/gene/GN024565",
      "geneNCBI_id": 284058,
      "geneSymbol": "KANSL1",
      "hgvs": [
        "ENST00000639150.1:c.679C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000491906.1:p.His227Asp",
        "hgvsWellDefined": "ENSP00000491906.1:p.His227Asp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS764892"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2183,
          "referenceAllele": "C",
          "start": 2182
        }
      ],
      "gene": "http://reg.genome.network/gene/GN024565",
      "geneNCBI_id": 284058,
      "geneSymbol": "KANSL1",
      "hgvs": [
        "ENST00000639375.1:n.2183C>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS764995"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1985,
          "referenceAllele": "C",
          "start": 1984
        }
      ],
      "gene": "http://reg.genome.network/gene/GN024565",
      "geneNCBI_id": 284058,
      "geneSymbol": "KANSL1",
      "hgvs": [
        "ENST00000639531.1:c.1945C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000491765.1:p.His649Asp",
        "hgvsWellDefined": "ENSP00000491765.1:p.His649Asp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS765070"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1116,
          "referenceAllele": "C",
          "start": 1115
        }
      ],
      "gene": "http://reg.genome.network/gene/GN024565",
      "geneNCBI_id": 284058,
      "geneSymbol": "KANSL1",
      "hgvs": [
        "ENST00000639853.1:c.1116C>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS765211"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 87,
          "referenceAllele": "C",
          "start": 86
        }
      ],
      "gene": "http://reg.genome.network/gene/GN024565",
      "geneNCBI_id": 284058,
      "geneSymbol": "KANSL1",
      "hgvs": [
        "ENST00000640636.1:c.87C>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS765594"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2201,
          "referenceAllele": "C",
          "start": 2200
        }
      ],
      "gene": "http://reg.genome.network/gene/GN024565",
      "geneNCBI_id": 284058,
      "geneSymbol": "KANSL1",
      "hgvs": [
        "ENST00000648792.1:c.1945C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000497628.1:p.His649Asp",
        "hgvsWellDefined": "ENSP00000497628.1:p.His649Asp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS770178"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2416,
          "referenceAllele": "C",
          "start": 2415
        }
      ],
      "gene": "http://reg.genome.network/gene/GN024565",
      "geneNCBI_id": 284058,
      "geneSymbol": "KANSL1",
      "hgvs": [
        "ENST00000262419.10:c.1945C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000262419.6:p.His649Asp",
        "hgvsWellDefined": "ENSP00000262419.6:p.His649Asp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS251013"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2202,
          "referenceAllele": "C",
          "start": 2201
        }
      ],
      "gene": "http://reg.genome.network/gene/GN024565",
      "geneNCBI_id": 284058,
      "geneSymbol": "KANSL1",
      "hgvs": [
        "ENST00000432791.5:c.1945C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000387393.2:p.His649Asp",
        "hgvsWellDefined": "ENSP00000387393.2:p.His649Asp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS292241"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2118,
          "referenceAllele": "C",
          "start": 2117
        }
      ],
      "gene": "http://reg.genome.network/gene/GN024565",
      "geneNCBI_id": 284058,
      "geneSymbol": "KANSL1",
      "hgvs": [
        "ENST00000572904.5:c.1945C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000461484.1:p.His649Asp",
        "hgvsWellDefined": "ENSP00000461484.1:p.His649Asp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS383091"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2172,
          "referenceAllele": "C",
          "start": 2171
        }
      ],
      "gene": "http://reg.genome.network/gene/GN024565",
      "geneNCBI_id": 284058,
      "geneSymbol": "KANSL1",
      "hgvs": [
        "ENST00000574590.5:c.1945C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000461812.1:p.His649Asp",
        "hgvsWellDefined": "ENSP00000461812.1:p.His649Asp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS383750"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1979,
          "referenceAllele": "C",
          "start": 1978
        }
      ],
      "gene": "http://reg.genome.network/gene/GN024565",
      "geneNCBI_id": 284058,
      "geneSymbol": "KANSL1",
      "hgvs": [
        "ENST00000575318.5:c.1945C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000461299.1:p.His649Asp",
        "hgvsWellDefined": "ENSP00000461299.1:p.His649Asp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS384072"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 742,
          "referenceAllele": "C",
          "start": 741
        }
      ],
      "gene": "http://reg.genome.network/gene/GN024565",
      "geneNCBI_id": 284058,
      "geneSymbol": "KANSL1",
      "hgvs": [
        "ENST00000577114.1:n.742C>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS384724"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826185336",
      "coordinates": [
        {
          "allele": "G",
          "end": 2202,
          "referenceAllele": "C",
          "start": 2201
        }
      ],
      "gene": "http://reg.genome.network/gene/GN024565",
      "geneNCBI_id": 284058,
      "geneSymbol": "KANSL1",
      "hgvs": [
        "NM_001193465.1:c.1945C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001180394.1:p.His649Asp",
        "hgvsWellDefined": "NP_001180394.1:p.His649Asp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS016402"
    },
    {
      "@id": "http://reg.genome.network/allele/PA645506831",
      "coordinates": [
        {
          "allele": "G",
          "end": 2416,
          "referenceAllele": "C",
          "start": 2415
        }
      ],
      "gene": "http://reg.genome.network/gene/GN024565",
      "geneNCBI_id": 284058,
      "geneSymbol": "KANSL1",
      "hgvs": [
        "NM_001193466.1:c.1945C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001180395.1:p.His649Asp",
        "hgvsWellDefined": "NP_001180395.1:p.His649Asp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS016403"
    },
    {
      "@id": "http://reg.genome.network/allele/PA915983994",
      "coordinates": [
        {
          "allele": "G",
          "end": 2118,
          "referenceAllele": "C",
          "start": 2117
        }
      ],
      "gene": "http://reg.genome.network/gene/GN024565",
      "geneNCBI_id": 284058,
      "geneSymbol": "KANSL1",
      "hgvs": [
        "NM_015443.3:c.1945C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_056258.1:p.His649Asp",
        "hgvsWellDefined": "NP_056258.1:p.His649Asp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS034023"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2202,
          "referenceAllele": "C",
          "start": 2201
        }
      ],
      "gene": "http://reg.genome.network/gene/GN024565",
      "geneNCBI_id": 284058,
      "geneSymbol": "KANSL1",
      "hgvs": [
        "XM_006721823.1:c.1945C>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_006721886.1:p.His649Asp",
        "hgvsWellDefined": "XP_006721886.1:p.His649Asp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS074271"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2393,
          "referenceAllele": "C",
          "start": 2392
        }
      ],
      "gene": "http://reg.genome.network/gene/GN024565",
      "geneNCBI_id": 284058,
      "geneSymbol": "KANSL1",
      "hgvs": [
        "XM_006721824.2:c.1945C>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_006721887.1:p.His649Asp",
        "hgvsWellDefined": "XP_006721887.1:p.His649Asp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS074272"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2393,
          "referenceAllele": "C",
          "start": 2392
        }
      ],
      "gene": "http://reg.genome.network/gene/GN024565",
      "geneNCBI_id": 284058,
      "geneSymbol": "KANSL1",
      "hgvs": [
        "XM_011524628.1:c.1945C>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011522930.1:p.His649Asp",
        "hgvsWellDefined": "XP_011522930.1:p.His649Asp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS091749"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2291,
          "referenceAllele": "C",
          "start": 2290
        }
      ],
      "gene": "http://reg.genome.network/gene/GN024565",
      "geneNCBI_id": 284058,
      "geneSymbol": "KANSL1",
      "hgvs": [
        "XM_011524629.1:c.1843C>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011522931.1:p.His615Asp",
        "hgvsWellDefined": "XP_011522931.1:p.His615Asp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS091750"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2393,
          "referenceAllele": "C",
          "start": 2392
        }
      ],
      "gene": "http://reg.genome.network/gene/GN024565",
      "geneNCBI_id": 284058,
      "geneSymbol": "KANSL1",
      "hgvs": [
        "XM_011524630.1:c.1945C>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011522932.1:p.His649Asp",
        "hgvsWellDefined": "XP_011522932.1:p.His649Asp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS091751"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2393,
          "referenceAllele": "C",
          "start": 2392
        }
      ],
      "gene": "http://reg.genome.network/gene/GN024565",
      "geneNCBI_id": 284058,
      "geneSymbol": "KANSL1",
      "hgvs": [
        "XM_011524631.1:c.1945C>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011522933.1:p.His649Asp",
        "hgvsWellDefined": "XP_011522933.1:p.His649Asp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS091752"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 799,
          "referenceAllele": "C",
          "start": 798
        }
      ],
      "gene": "http://reg.genome.network/gene/GN024565",
      "geneNCBI_id": 284058,
      "geneSymbol": "KANSL1",
      "hgvs": [
        "XM_011524632.1:c.715C>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011522934.1:p.His239Asp",
        "hgvsWellDefined": "XP_011522934.1:p.His239Asp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS091753"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2198,
          "referenceAllele": "C",
          "start": 2197
        }
      ],
      "gene": "http://reg.genome.network/gene/GN024565",
      "geneNCBI_id": 284058,
      "geneSymbol": "KANSL1",
      "hgvs": [
        "XM_006721823.2:c.1945C>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_006721886.1:p.His649Asp",
        "hgvsWellDefined": "XP_006721886.1:p.His649Asp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS540390"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2511,
          "referenceAllele": "C",
          "start": 2510
        }
      ],
      "gene": "http://reg.genome.network/gene/GN024565",
      "geneNCBI_id": 284058,
      "geneSymbol": "KANSL1",
      "hgvs": [
        "XM_006721824.4:c.1945C>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_006721887.1:p.His649Asp",
        "hgvsWellDefined": "XP_006721887.1:p.His649Asp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS540391"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2511,
          "referenceAllele": "C",
          "start": 2510
        }
      ],
      "gene": "http://reg.genome.network/gene/GN024565",
      "geneNCBI_id": 284058,
      "geneSymbol": "KANSL1",
      "hgvs": [
        "XM_011524628.3:c.1945C>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011522930.1:p.His649Asp",
        "hgvsWellDefined": "XP_011522930.1:p.His649Asp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS547535"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2409,
          "referenceAllele": "C",
          "start": 2408
        }
      ],
      "gene": "http://reg.genome.network/gene/GN024565",
      "geneNCBI_id": 284058,
      "geneSymbol": "KANSL1",
      "hgvs": [
        "XM_011524629.3:c.1843C>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011522931.1:p.His615Asp",
        "hgvsWellDefined": "XP_011522931.1:p.His615Asp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS547536"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2511,
          "referenceAllele": "C",
          "start": 2510
        }
      ],
      "gene": "http://reg.genome.network/gene/GN024565",
      "geneNCBI_id": 284058,
      "geneSymbol": "KANSL1",
      "hgvs": [
        "XM_011524630.3:c.1945C>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011522932.1:p.His649Asp",
        "hgvsWellDefined": "XP_011522932.1:p.His649Asp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS547537"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2511,
          "referenceAllele": "C",
          "start": 2510
        }
      ],
      "gene": "http://reg.genome.network/gene/GN024565",
      "geneNCBI_id": 284058,
      "geneSymbol": "KANSL1",
      "hgvs": [
        "XM_011524631.3:c.1945C>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011522933.1:p.His649Asp",
        "hgvsWellDefined": "XP_011522933.1:p.His649Asp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS547538"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 815,
          "referenceAllele": "C",
          "start": 814
        }
      ],
      "gene": "http://reg.genome.network/gene/GN024565",
      "geneNCBI_id": 284058,
      "geneSymbol": "KANSL1",
      "hgvs": [
        "XM_011524632.3:c.715C>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011522934.1:p.His239Asp",
        "hgvsWellDefined": "XP_011522934.1:p.His239Asp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS547539"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2198,
          "referenceAllele": "C",
          "start": 2197
        }
      ],
      "gene": "http://reg.genome.network/gene/GN024565",
      "geneNCBI_id": 284058,
      "geneSymbol": "KANSL1",
      "hgvs": [
        "XM_017024488.2:c.1945C>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_016879977.1:p.His649Asp",
        "hgvsWellDefined": "XP_016879977.1:p.His649Asp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS575048"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2211,
          "referenceAllele": "C",
          "start": 2210
        }
      ],
      "gene": "http://reg.genome.network/gene/GN024565",
      "geneNCBI_id": 284058,
      "geneSymbol": "KANSL1",
      "hgvs": [
        "XM_017024489.1:c.1843C>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_016879978.1:p.His615Asp",
        "hgvsWellDefined": "XP_016879978.1:p.His615Asp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS575049"
    },
    {
      "@id": "http://reg.genome.network/allele/PA645506831",
      "coordinates": [
        {
          "allele": "G",
          "end": 2398,
          "referenceAllele": "C",
          "start": 2397
        }
      ],
      "gene": "http://reg.genome.network/gene/GN024565",
      "geneNCBI_id": 284058,
      "geneSymbol": "KANSL1",
      "hgvs": [
        "NM_001193466.2:c.1945C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001180395.1:p.His649Asp",
        "hgvsWellDefined": "NP_001180395.1:p.His649Asp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS679224"
    },
    {
      "@id": "http://reg.genome.network/allele/PA915983994",
      "coordinates": [
        {
          "allele": "G",
          "end": 2641,
          "referenceAllele": "C",
          "start": 2640
        }
      ],
      "gene": "http://reg.genome.network/gene/GN024565",
      "geneNCBI_id": 284058,
      "geneSymbol": "KANSL1",
      "hgvs": [
        "NM_015443.4:c.1945C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_056258.1:p.His649Asp",
        "hgvsWellDefined": "NP_056258.1:p.His649Asp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS697543",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000432791.7:c.1945C>G"
          },
          "RefSeq": {
            "hgvs": "NM_015443.4:c.1945C>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000387393.3:p.His649Asp"
          },
          "RefSeq": {
            "hgvs": "NP_056258.1:p.His649Asp"
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826185336",
      "coordinates": [
        {
          "allele": "G",
          "end": 2195,
          "referenceAllele": "C",
          "start": 2194
        }
      ],
      "gene": "http://reg.genome.network/gene/GN024565",
      "geneNCBI_id": 284058,
      "geneSymbol": "KANSL1",
      "hgvs": [
        "NM_001193465.2:c.1945C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001180394.1:p.His649Asp",
        "hgvsWellDefined": "NP_001180394.1:p.His649Asp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS713746"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828815143",
      "coordinates": [
        {
          "allele": "G",
          "end": 2195,
          "referenceAllele": "C",
          "start": 2194
        }
      ],
      "gene": "http://reg.genome.network/gene/GN024565",
      "geneNCBI_id": 284058,
      "geneSymbol": "KANSL1",
      "hgvs": [
        "NM_001379198.1:c.1945C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001366127.1:p.His649Asp",
        "hgvsWellDefined": "NP_001366127.1:p.His649Asp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS721930"
    }
  ],
  "type": "nucleotide"
}