{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA8618395",
  "communityStandardTitle": [
    "NM_015443.4(KANSL1):c.3038T>C (p.Leu1013Ser)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=378337[alleleid]",
        "alleleId": 378337,
        "preferredName": "NM_015443.4(KANSL1):c.3038T>C (p.Leu1013Ser)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/382192",
        "RCV": [
          "RCV000530673",
          "RCV001703690"
        ],
        "variationId": 382192
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/17-44109465-A-G",
        "id": "17-44109465-A-G",
        "variant": "17:44109465 A / G"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr17:g.44109465A>G?assembly=hg19",
        "id": "chr17:g.44109465A>G"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr17:g.46032099A>G?assembly=hg38",
        "id": "chr17:g.46032099A>G"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/138490347",
        "rs": 138490347
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/17-44109465-A-G?dataset=gnomad_r2_1",
        "id": "17-44109465-A-G",
        "variant": "17:44109465 A / G"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/17-46032099-A-G?dataset=gnomad_r3",
        "id": "17-46032099-A-G",
        "variant": "17:46032099 A / G"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/17-46032099-A-G?dataset=gnomad_r4",
        "id": "17-46032099-A-G",
        "variant": "17:46032099 A / G"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "17",
      "coordinates": [
        {
          "allele": "G",
          "end": 46032099,
          "referenceAllele": "A",
          "start": 46032098
        }
      ],
      "hgvs": [
        "NC_000017.11:g.46032099A>G",
        "CM000679.2:g.46032099A>G"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000065"
    },
    {
      "chromosome": "17",
      "coordinates": [
        {
          "allele": "G",
          "end": 44109465,
          "referenceAllele": "A",
          "start": 44109464
        }
      ],
      "hgvs": [
        "NC_000017.10:g.44109465A>G",
        "CM000679.1:g.44109465A>G"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000041"
    },
    {
      "chromosome": "17",
      "coordinates": [
        {
          "allele": "G",
          "end": 41465312,
          "referenceAllele": "A",
          "start": 41465311
        }
      ],
      "hgvs": [
        "NC_000017.9:g.41465312A>G"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000017"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 198276,
          "referenceAllele": "T",
          "start": 198275
        }
      ],
      "hgvs": [
        "NG_032784.1:g.198276T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS005220"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 3734,
          "referenceAllele": "T",
          "start": 3733
        }
      ],
      "gene": "http://reg.genome.network/gene/GN024565",
      "geneNCBI_id": 284058,
      "geneSymbol": "KANSL1",
      "hgvs": [
        "ENST00000432791.7:c.3038T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000387393.3:p.Leu1013Ser",
        "hgvsWellDefined": "ENSP00000387393.3:p.Leu1013Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS755424",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000432791.7:c.3038T>C"
          },
          "RefSeq": {
            "hgvs": "NM_015443.4:c.3038T>C"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000387393.3:p.Leu1013Ser"
          },
          "RefSeq": {
            "hgvs": "NP_056258.1:p.Leu1013Ser"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 3133,
          "referenceAllele": "T",
          "start": 3132
        }
      ],
      "gene": "http://reg.genome.network/gene/GN024565",
      "geneNCBI_id": 284058,
      "geneSymbol": "KANSL1",
      "hgvs": [
        "ENST00000572904.6:c.3038T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000461484.1:p.Leu1013Ser",
        "hgvsWellDefined": "ENSP00000461484.1:p.Leu1013Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS760699"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 3307,
          "referenceAllele": "T",
          "start": 3306
        }
      ],
      "gene": "http://reg.genome.network/gene/GN024565",
      "geneNCBI_id": 284058,
      "geneSymbol": "KANSL1",
      "hgvs": [
        "ENST00000574590.6:c.3035T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000461812.2:p.Leu1012Ser",
        "hgvsWellDefined": "ENSP00000461812.2:p.Leu1012Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS760743"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 3096,
          "referenceAllele": "T",
          "start": 3095
        }
      ],
      "gene": "http://reg.genome.network/gene/GN024565",
      "geneNCBI_id": 284058,
      "geneSymbol": "KANSL1",
      "hgvs": [
        "ENST00000575318.6:c.2846T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000461299.1:p.Leu949Ser",
        "hgvsWellDefined": "ENSP00000461299.1:p.Leu949Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS760759"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 3513,
          "referenceAllele": "T",
          "start": 3512
        }
      ],
      "gene": "http://reg.genome.network/gene/GN024565",
      "geneNCBI_id": 284058,
      "geneSymbol": "KANSL1",
      "hgvs": [
        "ENST00000638275.1:c.2846T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000492576.1:p.Leu949Ser",
        "hgvsWellDefined": "ENSP00000492576.1:p.Leu949Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS764443"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 455,
          "referenceAllele": "T",
          "start": 454
        }
      ],
      "gene": "http://reg.genome.network/gene/GN024565",
      "geneNCBI_id": 284058,
      "geneSymbol": "KANSL1",
      "hgvs": [
        "ENST00000639805.1:n.455T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS765183"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 3162,
          "referenceAllele": "T",
          "start": 3161
        }
      ],
      "gene": "http://reg.genome.network/gene/GN024565",
      "geneNCBI_id": 284058,
      "geneSymbol": "KANSL1",
      "hgvs": [
        "ENST00000648792.1:c.2906T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000497628.1:p.Leu969Ser",
        "hgvsWellDefined": "ENSP00000497628.1:p.Leu969Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS770178"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 3509,
          "referenceAllele": "T",
          "start": 3508
        }
      ],
      "gene": "http://reg.genome.network/gene/GN024565",
      "geneNCBI_id": 284058,
      "geneSymbol": "KANSL1",
      "hgvs": [
        "ENST00000262419.10:c.3038T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000262419.6:p.Leu1013Ser",
        "hgvsWellDefined": "ENSP00000262419.6:p.Leu1013Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS251013"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 3292,
          "referenceAllele": "T",
          "start": 3291
        }
      ],
      "gene": "http://reg.genome.network/gene/GN024565",
      "geneNCBI_id": 284058,
      "geneSymbol": "KANSL1",
      "hgvs": [
        "ENST00000432791.5:c.3035T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000387393.2:p.Leu1012Ser",
        "hgvsWellDefined": "ENSP00000387393.2:p.Leu1012Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS292241"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 7255,
          "referenceAllele": "T",
          "start": 7254
        }
      ],
      "gene": "http://reg.genome.network/gene/GN024565",
      "geneNCBI_id": 284058,
      "geneSymbol": "KANSL1",
      "hgvs": [
        "ENST00000572218.5:n.7255T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS382828"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 3211,
          "referenceAllele": "T",
          "start": 3210
        }
      ],
      "gene": "http://reg.genome.network/gene/GN024565",
      "geneNCBI_id": 284058,
      "geneSymbol": "KANSL1",
      "hgvs": [
        "ENST00000572904.5:c.3038T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000461484.1:p.Leu1013Ser",
        "hgvsWellDefined": "ENSP00000461484.1:p.Leu1013Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS383091"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 3265,
          "referenceAllele": "T",
          "start": 3264
        }
      ],
      "gene": "http://reg.genome.network/gene/GN024565",
      "geneNCBI_id": 284058,
      "geneSymbol": "KANSL1",
      "hgvs": [
        "ENST00000574590.5:c.3038T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000461812.1:p.Leu1013Ser",
        "hgvsWellDefined": "ENSP00000461812.1:p.Leu1013Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS383750"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 468,
          "referenceAllele": "T",
          "start": 467
        }
      ],
      "gene": "http://reg.genome.network/gene/GN024565",
      "geneNCBI_id": 284058,
      "geneSymbol": "KANSL1",
      "hgvs": [
        "ENST00000574963.1:n.468T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS383910"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2880,
          "referenceAllele": "T",
          "start": 2879
        }
      ],
      "gene": "http://reg.genome.network/gene/GN024565",
      "geneNCBI_id": 284058,
      "geneSymbol": "KANSL1",
      "hgvs": [
        "ENST00000575318.5:c.2846T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000461299.1:p.Leu949Ser",
        "hgvsWellDefined": "ENSP00000461299.1:p.Leu949Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS384072"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1010,
          "referenceAllele": "T",
          "start": 1009
        }
      ],
      "gene": "http://reg.genome.network/gene/GN024565",
      "geneNCBI_id": 284058,
      "geneSymbol": "KANSL1",
      "hgvs": [
        "ENST00000576870.5:n.1010T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS384631"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826185619",
      "coordinates": [
        {
          "allele": "C",
          "end": 3292,
          "referenceAllele": "T",
          "start": 3291
        }
      ],
      "gene": "http://reg.genome.network/gene/GN024565",
      "geneNCBI_id": 284058,
      "geneSymbol": "KANSL1",
      "hgvs": [
        "NM_001193465.1:c.3035T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001180394.1:p.Leu1012Ser",
        "hgvsWellDefined": "NP_001180394.1:p.Leu1012Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS016402"
    },
    {
      "@id": "http://reg.genome.network/allele/PA645506863",
      "coordinates": [
        {
          "allele": "C",
          "end": 3509,
          "referenceAllele": "T",
          "start": 3508
        }
      ],
      "gene": "http://reg.genome.network/gene/GN024565",
      "geneNCBI_id": 284058,
      "geneSymbol": "KANSL1",
      "hgvs": [
        "NM_001193466.1:c.3038T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001180395.1:p.Leu1013Ser",
        "hgvsWellDefined": "NP_001180395.1:p.Leu1013Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS016403"
    },
    {
      "@id": "http://reg.genome.network/allele/PA915984213",
      "coordinates": [
        {
          "allele": "C",
          "end": 3211,
          "referenceAllele": "T",
          "start": 3210
        }
      ],
      "gene": "http://reg.genome.network/gene/GN024565",
      "geneNCBI_id": 284058,
      "geneSymbol": "KANSL1",
      "hgvs": [
        "NM_015443.3:c.3038T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_056258.1:p.Leu1013Ser",
        "hgvsWellDefined": "NP_056258.1:p.Leu1013Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS034023"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 3295,
          "referenceAllele": "T",
          "start": 3294
        }
      ],
      "gene": "http://reg.genome.network/gene/GN024565",
      "geneNCBI_id": 284058,
      "geneSymbol": "KANSL1",
      "hgvs": [
        "XM_006721823.1:c.3038T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_006721886.1:p.Leu1013Ser",
        "hgvsWellDefined": "XP_006721886.1:p.Leu1013Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS074271"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 3486,
          "referenceAllele": "T",
          "start": 3485
        }
      ],
      "gene": "http://reg.genome.network/gene/GN024565",
      "geneNCBI_id": 284058,
      "geneSymbol": "KANSL1",
      "hgvs": [
        "XM_006721824.2:c.3038T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_006721887.1:p.Leu1013Ser",
        "hgvsWellDefined": "XP_006721887.1:p.Leu1013Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS074272"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 3483,
          "referenceAllele": "T",
          "start": 3482
        }
      ],
      "gene": "http://reg.genome.network/gene/GN024565",
      "geneNCBI_id": 284058,
      "geneSymbol": "KANSL1",
      "hgvs": [
        "XM_011524628.1:c.3035T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011522930.1:p.Leu1012Ser",
        "hgvsWellDefined": "XP_011522930.1:p.Leu1012Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS091749"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 3384,
          "referenceAllele": "T",
          "start": 3383
        }
      ],
      "gene": "http://reg.genome.network/gene/GN024565",
      "geneNCBI_id": 284058,
      "geneSymbol": "KANSL1",
      "hgvs": [
        "XM_011524629.1:c.2936T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011522931.1:p.Leu979Ser",
        "hgvsWellDefined": "XP_011522931.1:p.Leu979Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS091750"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 3297,
          "referenceAllele": "T",
          "start": 3296
        }
      ],
      "gene": "http://reg.genome.network/gene/GN024565",
      "geneNCBI_id": 284058,
      "geneSymbol": "KANSL1",
      "hgvs": [
        "XM_011524630.1:c.2849T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011522932.1:p.Leu950Ser",
        "hgvsWellDefined": "XP_011522932.1:p.Leu950Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS091751"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 3294,
          "referenceAllele": "T",
          "start": 3293
        }
      ],
      "gene": "http://reg.genome.network/gene/GN024565",
      "geneNCBI_id": 284058,
      "geneSymbol": "KANSL1",
      "hgvs": [
        "XM_011524631.1:c.2846T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011522933.1:p.Leu949Ser",
        "hgvsWellDefined": "XP_011522933.1:p.Leu949Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS091752"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1892,
          "referenceAllele": "T",
          "start": 1891
        }
      ],
      "gene": "http://reg.genome.network/gene/GN024565",
      "geneNCBI_id": 284058,
      "geneSymbol": "KANSL1",
      "hgvs": [
        "XM_011524632.1:c.1808T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011522934.1:p.Leu603Ser",
        "hgvsWellDefined": "XP_011522934.1:p.Leu603Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS091753"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 3291,
          "referenceAllele": "T",
          "start": 3290
        }
      ],
      "gene": "http://reg.genome.network/gene/GN024565",
      "geneNCBI_id": 284058,
      "geneSymbol": "KANSL1",
      "hgvs": [
        "XM_006721823.2:c.3038T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_006721886.1:p.Leu1013Ser",
        "hgvsWellDefined": "XP_006721886.1:p.Leu1013Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS540390"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 3604,
          "referenceAllele": "T",
          "start": 3603
        }
      ],
      "gene": "http://reg.genome.network/gene/GN024565",
      "geneNCBI_id": 284058,
      "geneSymbol": "KANSL1",
      "hgvs": [
        "XM_006721824.4:c.3038T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_006721887.1:p.Leu1013Ser",
        "hgvsWellDefined": "XP_006721887.1:p.Leu1013Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS540391"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 3601,
          "referenceAllele": "T",
          "start": 3600
        }
      ],
      "gene": "http://reg.genome.network/gene/GN024565",
      "geneNCBI_id": 284058,
      "geneSymbol": "KANSL1",
      "hgvs": [
        "XM_011524628.3:c.3035T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011522930.1:p.Leu1012Ser",
        "hgvsWellDefined": "XP_011522930.1:p.Leu1012Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS547535"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 3502,
          "referenceAllele": "T",
          "start": 3501
        }
      ],
      "gene": "http://reg.genome.network/gene/GN024565",
      "geneNCBI_id": 284058,
      "geneSymbol": "KANSL1",
      "hgvs": [
        "XM_011524629.3:c.2936T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011522931.1:p.Leu979Ser",
        "hgvsWellDefined": "XP_011522931.1:p.Leu979Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS547536"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 3415,
          "referenceAllele": "T",
          "start": 3414
        }
      ],
      "gene": "http://reg.genome.network/gene/GN024565",
      "geneNCBI_id": 284058,
      "geneSymbol": "KANSL1",
      "hgvs": [
        "XM_011524630.3:c.2849T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011522932.1:p.Leu950Ser",
        "hgvsWellDefined": "XP_011522932.1:p.Leu950Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS547537"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 3412,
          "referenceAllele": "T",
          "start": 3411
        }
      ],
      "gene": "http://reg.genome.network/gene/GN024565",
      "geneNCBI_id": 284058,
      "geneSymbol": "KANSL1",
      "hgvs": [
        "XM_011524631.3:c.2846T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011522933.1:p.Leu949Ser",
        "hgvsWellDefined": "XP_011522933.1:p.Leu949Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS547538"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1908,
          "referenceAllele": "T",
          "start": 1907
        }
      ],
      "gene": "http://reg.genome.network/gene/GN024565",
      "geneNCBI_id": 284058,
      "geneSymbol": "KANSL1",
      "hgvs": [
        "XM_011524632.3:c.1808T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011522934.1:p.Leu603Ser",
        "hgvsWellDefined": "XP_011522934.1:p.Leu603Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS547539"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 3099,
          "referenceAllele": "T",
          "start": 3098
        }
      ],
      "gene": "http://reg.genome.network/gene/GN024565",
      "geneNCBI_id": 284058,
      "geneSymbol": "KANSL1",
      "hgvs": [
        "XM_017024488.2:c.2846T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_016879977.1:p.Leu949Ser",
        "hgvsWellDefined": "XP_016879977.1:p.Leu949Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS575048"
    },
    {
      "@id": "http://reg.genome.network/allele/PA645506863",
      "coordinates": [
        {
          "allele": "C",
          "end": 3491,
          "referenceAllele": "T",
          "start": 3490
        }
      ],
      "gene": "http://reg.genome.network/gene/GN024565",
      "geneNCBI_id": 284058,
      "geneSymbol": "KANSL1",
      "hgvs": [
        "NM_001193466.2:c.3038T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001180395.1:p.Leu1013Ser",
        "hgvsWellDefined": "NP_001180395.1:p.Leu1013Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS679224"
    },
    {
      "@id": "http://reg.genome.network/allele/PA915984213",
      "coordinates": [
        {
          "allele": "C",
          "end": 3734,
          "referenceAllele": "T",
          "start": 3733
        }
      ],
      "gene": "http://reg.genome.network/gene/GN024565",
      "geneNCBI_id": 284058,
      "geneSymbol": "KANSL1",
      "hgvs": [
        "NM_015443.4:c.3038T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_056258.1:p.Leu1013Ser",
        "hgvsWellDefined": "NP_056258.1:p.Leu1013Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS697543",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000432791.7:c.3038T>C"
          },
          "RefSeq": {
            "hgvs": "NM_015443.4:c.3038T>C"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000387393.3:p.Leu1013Ser"
          },
          "RefSeq": {
            "hgvs": "NP_056258.1:p.Leu1013Ser"
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826185619",
      "coordinates": [
        {
          "allele": "C",
          "end": 3285,
          "referenceAllele": "T",
          "start": 3284
        }
      ],
      "gene": "http://reg.genome.network/gene/GN024565",
      "geneNCBI_id": 284058,
      "geneSymbol": "KANSL1",
      "hgvs": [
        "NM_001193465.2:c.3035T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001180394.1:p.Leu1012Ser",
        "hgvsWellDefined": "NP_001180394.1:p.Leu1012Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS713746"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828815426",
      "coordinates": [
        {
          "allele": "C",
          "end": 3288,
          "referenceAllele": "T",
          "start": 3287
        }
      ],
      "gene": "http://reg.genome.network/gene/GN024565",
      "geneNCBI_id": 284058,
      "geneSymbol": "KANSL1",
      "hgvs": [
        "NM_001379198.1:c.3038T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001366127.1:p.Leu1013Ser",
        "hgvsWellDefined": "NP_001366127.1:p.Leu1013Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS721930"
    }
  ],
  "type": "nucleotide"
}