{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA315138",
  "communityStandardTitle": [
    "NM_015443.4(KANSL1):c.3148T>C (p.Cys1050Arg)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=203377[alleleid]",
        "alleleId": 203377,
        "preferredName": "NM_015443.4(KANSL1):c.3148T>C (p.Cys1050Arg)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/205755",
        "RCV": [
          "RCV000187743",
          "RCV003765193"
        ],
        "variationId": 205755
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr17:g.44109012A>G?assembly=hg19",
        "id": "chr17:g.44109012A>G"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr17:g.46031646A>G?assembly=hg38",
        "id": "chr17:g.46031646A>G"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/796052590",
        "rs": 796052590
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "17",
      "coordinates": [
        {
          "allele": "G",
          "end": 46031646,
          "referenceAllele": "A",
          "start": 46031645
        }
      ],
      "hgvs": [
        "NC_000017.11:g.46031646A>G",
        "CM000679.2:g.46031646A>G"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000065"
    },
    {
      "chromosome": "17",
      "coordinates": [
        {
          "allele": "G",
          "end": 44109012,
          "referenceAllele": "A",
          "start": 44109011
        }
      ],
      "hgvs": [
        "NC_000017.10:g.44109012A>G",
        "CM000679.1:g.44109012A>G"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000041"
    },
    {
      "chromosome": "17",
      "coordinates": [
        {
          "allele": "G",
          "end": 41464859,
          "referenceAllele": "A",
          "start": 41464858
        }
      ],
      "hgvs": [
        "NC_000017.9:g.41464859A>G"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000017"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 198729,
          "referenceAllele": "T",
          "start": 198728
        }
      ],
      "hgvs": [
        "NG_032784.1:g.198729T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS005220"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 3844,
          "referenceAllele": "T",
          "start": 3843
        }
      ],
      "gene": "http://reg.genome.network/gene/GN024565",
      "geneNCBI_id": 284058,
      "geneSymbol": "KANSL1",
      "hgvs": [
        "ENST00000432791.7:c.3148T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000387393.3:p.Cys1050Arg",
        "hgvsWellDefined": "ENSP00000387393.3:p.Cys1050Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS755424",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000432791.7:c.3148T>C"
          },
          "RefSeq": {
            "hgvs": "NM_015443.4:c.3148T>C"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000387393.3:p.Cys1050Arg"
          },
          "RefSeq": {
            "hgvs": "NP_056258.1:p.Cys1050Arg"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 3243,
          "referenceAllele": "T",
          "start": 3242
        }
      ],
      "gene": "http://reg.genome.network/gene/GN024565",
      "geneNCBI_id": 284058,
      "geneSymbol": "KANSL1",
      "hgvs": [
        "ENST00000572904.6:c.3148T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000461484.1:p.Cys1050Arg",
        "hgvsWellDefined": "ENSP00000461484.1:p.Cys1050Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS760699"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 3417,
          "referenceAllele": "T",
          "start": 3416
        }
      ],
      "gene": "http://reg.genome.network/gene/GN024565",
      "geneNCBI_id": 284058,
      "geneSymbol": "KANSL1",
      "hgvs": [
        "ENST00000574590.6:c.3145T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000461812.2:p.Cys1049Arg",
        "hgvsWellDefined": "ENSP00000461812.2:p.Cys1049Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS760743"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 3206,
          "referenceAllele": "T",
          "start": 3205
        }
      ],
      "gene": "http://reg.genome.network/gene/GN024565",
      "geneNCBI_id": 284058,
      "geneSymbol": "KANSL1",
      "hgvs": [
        "ENST00000575318.6:c.2956T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000461299.1:p.Cys986Arg",
        "hgvsWellDefined": "ENSP00000461299.1:p.Cys986Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS760759"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 3623,
          "referenceAllele": "T",
          "start": 3622
        }
      ],
      "gene": "http://reg.genome.network/gene/GN024565",
      "geneNCBI_id": 284058,
      "geneSymbol": "KANSL1",
      "hgvs": [
        "ENST00000638275.1:c.2956T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000492576.1:p.Cys986Arg",
        "hgvsWellDefined": "ENSP00000492576.1:p.Cys986Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS764443"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 3272,
          "referenceAllele": "T",
          "start": 3271
        }
      ],
      "gene": "http://reg.genome.network/gene/GN024565",
      "geneNCBI_id": 284058,
      "geneSymbol": "KANSL1",
      "hgvs": [
        "ENST00000648792.1:c.3016T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000497628.1:p.Cys1006Arg",
        "hgvsWellDefined": "ENSP00000497628.1:p.Cys1006Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS770178"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 3619,
          "referenceAllele": "T",
          "start": 3618
        }
      ],
      "gene": "http://reg.genome.network/gene/GN024565",
      "geneNCBI_id": 284058,
      "geneSymbol": "KANSL1",
      "hgvs": [
        "ENST00000262419.10:c.3148T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000262419.6:p.Cys1050Arg",
        "hgvsWellDefined": "ENSP00000262419.6:p.Cys1050Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS251013"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 3402,
          "referenceAllele": "T",
          "start": 3401
        }
      ],
      "gene": "http://reg.genome.network/gene/GN024565",
      "geneNCBI_id": 284058,
      "geneSymbol": "KANSL1",
      "hgvs": [
        "ENST00000432791.5:c.3145T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000387393.2:p.Cys1049Arg",
        "hgvsWellDefined": "ENSP00000387393.2:p.Cys1049Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS292241"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 7365,
          "referenceAllele": "T",
          "start": 7364
        }
      ],
      "gene": "http://reg.genome.network/gene/GN024565",
      "geneNCBI_id": 284058,
      "geneSymbol": "KANSL1",
      "hgvs": [
        "ENST00000572218.5:n.7365T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS382828"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 3321,
          "referenceAllele": "T",
          "start": 3320
        }
      ],
      "gene": "http://reg.genome.network/gene/GN024565",
      "geneNCBI_id": 284058,
      "geneSymbol": "KANSL1",
      "hgvs": [
        "ENST00000572904.5:c.3148T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000461484.1:p.Cys1050Arg",
        "hgvsWellDefined": "ENSP00000461484.1:p.Cys1050Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS383091"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 3375,
          "referenceAllele": "T",
          "start": 3374
        }
      ],
      "gene": "http://reg.genome.network/gene/GN024565",
      "geneNCBI_id": 284058,
      "geneSymbol": "KANSL1",
      "hgvs": [
        "ENST00000574590.5:c.3148T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000461812.1:p.Cys1050Arg",
        "hgvsWellDefined": "ENSP00000461812.1:p.Cys1050Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS383750"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 921,
          "referenceAllele": "T",
          "start": 920
        }
      ],
      "gene": "http://reg.genome.network/gene/GN024565",
      "geneNCBI_id": 284058,
      "geneSymbol": "KANSL1",
      "hgvs": [
        "ENST00000574963.1:n.921T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS383910"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2990,
          "referenceAllele": "T",
          "start": 2989
        }
      ],
      "gene": "http://reg.genome.network/gene/GN024565",
      "geneNCBI_id": 284058,
      "geneSymbol": "KANSL1",
      "hgvs": [
        "ENST00000575318.5:c.2956T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000461299.1:p.Cys986Arg",
        "hgvsWellDefined": "ENSP00000461299.1:p.Cys986Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS384072"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1120,
          "referenceAllele": "T",
          "start": 1119
        }
      ],
      "gene": "http://reg.genome.network/gene/GN024565",
      "geneNCBI_id": 284058,
      "geneSymbol": "KANSL1",
      "hgvs": [
        "ENST00000576870.5:n.1120T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS384631"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826185650",
      "coordinates": [
        {
          "allele": "C",
          "end": 3402,
          "referenceAllele": "T",
          "start": 3401
        }
      ],
      "gene": "http://reg.genome.network/gene/GN024565",
      "geneNCBI_id": 284058,
      "geneSymbol": "KANSL1",
      "hgvs": [
        "NM_001193465.1:c.3145T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001180394.1:p.Cys1049Arg",
        "hgvsWellDefined": "NP_001180394.1:p.Cys1049Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS016402"
    },
    {
      "@id": "http://reg.genome.network/allele/PA315139",
      "coordinates": [
        {
          "allele": "C",
          "end": 3619,
          "referenceAllele": "T",
          "start": 3618
        }
      ],
      "gene": "http://reg.genome.network/gene/GN024565",
      "geneNCBI_id": 284058,
      "geneSymbol": "KANSL1",
      "hgvs": [
        "NM_001193466.1:c.3148T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001180395.1:p.Cys1050Arg",
        "hgvsWellDefined": "NP_001180395.1:p.Cys1050Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS016403"
    },
    {
      "@id": "http://reg.genome.network/allele/PA915984286",
      "coordinates": [
        {
          "allele": "C",
          "end": 3321,
          "referenceAllele": "T",
          "start": 3320
        }
      ],
      "gene": "http://reg.genome.network/gene/GN024565",
      "geneNCBI_id": 284058,
      "geneSymbol": "KANSL1",
      "hgvs": [
        "NM_015443.3:c.3148T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_056258.1:p.Cys1050Arg",
        "hgvsWellDefined": "NP_056258.1:p.Cys1050Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS034023"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 3405,
          "referenceAllele": "T",
          "start": 3404
        }
      ],
      "gene": "http://reg.genome.network/gene/GN024565",
      "geneNCBI_id": 284058,
      "geneSymbol": "KANSL1",
      "hgvs": [
        "XM_006721823.1:c.3148T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_006721886.1:p.Cys1050Arg",
        "hgvsWellDefined": "XP_006721886.1:p.Cys1050Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS074271"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 3596,
          "referenceAllele": "T",
          "start": 3595
        }
      ],
      "gene": "http://reg.genome.network/gene/GN024565",
      "geneNCBI_id": 284058,
      "geneSymbol": "KANSL1",
      "hgvs": [
        "XM_006721824.2:c.3148T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_006721887.1:p.Cys1050Arg",
        "hgvsWellDefined": "XP_006721887.1:p.Cys1050Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS074272"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 3593,
          "referenceAllele": "T",
          "start": 3592
        }
      ],
      "gene": "http://reg.genome.network/gene/GN024565",
      "geneNCBI_id": 284058,
      "geneSymbol": "KANSL1",
      "hgvs": [
        "XM_011524628.1:c.3145T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011522930.1:p.Cys1049Arg",
        "hgvsWellDefined": "XP_011522930.1:p.Cys1049Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS091749"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 3494,
          "referenceAllele": "T",
          "start": 3493
        }
      ],
      "gene": "http://reg.genome.network/gene/GN024565",
      "geneNCBI_id": 284058,
      "geneSymbol": "KANSL1",
      "hgvs": [
        "XM_011524629.1:c.3046T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011522931.1:p.Cys1016Arg",
        "hgvsWellDefined": "XP_011522931.1:p.Cys1016Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS091750"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 3407,
          "referenceAllele": "T",
          "start": 3406
        }
      ],
      "gene": "http://reg.genome.network/gene/GN024565",
      "geneNCBI_id": 284058,
      "geneSymbol": "KANSL1",
      "hgvs": [
        "XM_011524630.1:c.2959T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011522932.1:p.Cys987Arg",
        "hgvsWellDefined": "XP_011522932.1:p.Cys987Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS091751"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 3404,
          "referenceAllele": "T",
          "start": 3403
        }
      ],
      "gene": "http://reg.genome.network/gene/GN024565",
      "geneNCBI_id": 284058,
      "geneSymbol": "KANSL1",
      "hgvs": [
        "XM_011524631.1:c.2956T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011522933.1:p.Cys986Arg",
        "hgvsWellDefined": "XP_011522933.1:p.Cys986Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS091752"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2002,
          "referenceAllele": "T",
          "start": 2001
        }
      ],
      "gene": "http://reg.genome.network/gene/GN024565",
      "geneNCBI_id": 284058,
      "geneSymbol": "KANSL1",
      "hgvs": [
        "XM_011524632.1:c.1918T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011522934.1:p.Cys640Arg",
        "hgvsWellDefined": "XP_011522934.1:p.Cys640Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS091753"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 3401,
          "referenceAllele": "T",
          "start": 3400
        }
      ],
      "gene": "http://reg.genome.network/gene/GN024565",
      "geneNCBI_id": 284058,
      "geneSymbol": "KANSL1",
      "hgvs": [
        "XM_006721823.2:c.3148T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_006721886.1:p.Cys1050Arg",
        "hgvsWellDefined": "XP_006721886.1:p.Cys1050Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS540390"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 3714,
          "referenceAllele": "T",
          "start": 3713
        }
      ],
      "gene": "http://reg.genome.network/gene/GN024565",
      "geneNCBI_id": 284058,
      "geneSymbol": "KANSL1",
      "hgvs": [
        "XM_006721824.4:c.3148T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_006721887.1:p.Cys1050Arg",
        "hgvsWellDefined": "XP_006721887.1:p.Cys1050Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS540391"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 3711,
          "referenceAllele": "T",
          "start": 3710
        }
      ],
      "gene": "http://reg.genome.network/gene/GN024565",
      "geneNCBI_id": 284058,
      "geneSymbol": "KANSL1",
      "hgvs": [
        "XM_011524628.3:c.3145T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011522930.1:p.Cys1049Arg",
        "hgvsWellDefined": "XP_011522930.1:p.Cys1049Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS547535"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 3612,
          "referenceAllele": "T",
          "start": 3611
        }
      ],
      "gene": "http://reg.genome.network/gene/GN024565",
      "geneNCBI_id": 284058,
      "geneSymbol": "KANSL1",
      "hgvs": [
        "XM_011524629.3:c.3046T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011522931.1:p.Cys1016Arg",
        "hgvsWellDefined": "XP_011522931.1:p.Cys1016Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS547536"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 3525,
          "referenceAllele": "T",
          "start": 3524
        }
      ],
      "gene": "http://reg.genome.network/gene/GN024565",
      "geneNCBI_id": 284058,
      "geneSymbol": "KANSL1",
      "hgvs": [
        "XM_011524630.3:c.2959T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011522932.1:p.Cys987Arg",
        "hgvsWellDefined": "XP_011522932.1:p.Cys987Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS547537"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 3522,
          "referenceAllele": "T",
          "start": 3521
        }
      ],
      "gene": "http://reg.genome.network/gene/GN024565",
      "geneNCBI_id": 284058,
      "geneSymbol": "KANSL1",
      "hgvs": [
        "XM_011524631.3:c.2956T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011522933.1:p.Cys986Arg",
        "hgvsWellDefined": "XP_011522933.1:p.Cys986Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS547538"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2018,
          "referenceAllele": "T",
          "start": 2017
        }
      ],
      "gene": "http://reg.genome.network/gene/GN024565",
      "geneNCBI_id": 284058,
      "geneSymbol": "KANSL1",
      "hgvs": [
        "XM_011524632.3:c.1918T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011522934.1:p.Cys640Arg",
        "hgvsWellDefined": "XP_011522934.1:p.Cys640Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS547539"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 3209,
          "referenceAllele": "T",
          "start": 3208
        }
      ],
      "gene": "http://reg.genome.network/gene/GN024565",
      "geneNCBI_id": 284058,
      "geneSymbol": "KANSL1",
      "hgvs": [
        "XM_017024488.2:c.2956T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_016879977.1:p.Cys986Arg",
        "hgvsWellDefined": "XP_016879977.1:p.Cys986Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS575048"
    },
    {
      "@id": "http://reg.genome.network/allele/PA315139",
      "coordinates": [
        {
          "allele": "C",
          "end": 3601,
          "referenceAllele": "T",
          "start": 3600
        }
      ],
      "gene": "http://reg.genome.network/gene/GN024565",
      "geneNCBI_id": 284058,
      "geneSymbol": "KANSL1",
      "hgvs": [
        "NM_001193466.2:c.3148T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001180395.1:p.Cys1050Arg",
        "hgvsWellDefined": "NP_001180395.1:p.Cys1050Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS679224"
    },
    {
      "@id": "http://reg.genome.network/allele/PA915984286",
      "coordinates": [
        {
          "allele": "C",
          "end": 3844,
          "referenceAllele": "T",
          "start": 3843
        }
      ],
      "gene": "http://reg.genome.network/gene/GN024565",
      "geneNCBI_id": 284058,
      "geneSymbol": "KANSL1",
      "hgvs": [
        "NM_015443.4:c.3148T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_056258.1:p.Cys1050Arg",
        "hgvsWellDefined": "NP_056258.1:p.Cys1050Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS697543",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000432791.7:c.3148T>C"
          },
          "RefSeq": {
            "hgvs": "NM_015443.4:c.3148T>C"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000387393.3:p.Cys1050Arg"
          },
          "RefSeq": {
            "hgvs": "NP_056258.1:p.Cys1050Arg"
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826185650",
      "coordinates": [
        {
          "allele": "C",
          "end": 3395,
          "referenceAllele": "T",
          "start": 3394
        }
      ],
      "gene": "http://reg.genome.network/gene/GN024565",
      "geneNCBI_id": 284058,
      "geneSymbol": "KANSL1",
      "hgvs": [
        "NM_001193465.2:c.3145T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001180394.1:p.Cys1049Arg",
        "hgvsWellDefined": "NP_001180394.1:p.Cys1049Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS713746"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828815457",
      "coordinates": [
        {
          "allele": "C",
          "end": 3398,
          "referenceAllele": "T",
          "start": 3397
        }
      ],
      "gene": "http://reg.genome.network/gene/GN024565",
      "geneNCBI_id": 284058,
      "geneSymbol": "KANSL1",
      "hgvs": [
        "NM_001379198.1:c.3148T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001366127.1:p.Cys1050Arg",
        "hgvsWellDefined": "NP_001366127.1:p.Cys1050Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS721930"
    }
  ],
  "type": "nucleotide"
}