{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA2053119619",
  "communityStandardTitle": [
    "NM_000899.5(KITLG):c.107A= (p.Asn36=)"
  ],
  "externalRecords": {
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/121918653",
        "rs": 121918653
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "12",
      "coordinates": [
        {
          "allele": "T",
          "end": 88545774,
          "referenceAllele": "T",
          "start": 88545773
        }
      ],
      "hgvs": [
        "NC_000012.12:g.88545774T=",
        "CM000674.2:g.88545774T="
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000060"
    },
    {
      "chromosome": "12",
      "coordinates": [
        {
          "allele": "T",
          "end": 88939551,
          "referenceAllele": "T",
          "start": 88939550
        }
      ],
      "hgvs": [
        "NC_000012.11:g.88939551T=",
        "CM000674.1:g.88939551T="
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000036"
    },
    {
      "chromosome": "12",
      "coordinates": [
        {
          "allele": "T",
          "end": 87463682,
          "referenceAllele": "T",
          "start": 87463681
        }
      ],
      "hgvs": [
        "NC_000012.10:g.87463682T="
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000012"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 39688,
          "referenceAllele": "A",
          "start": 39687
        }
      ],
      "hgvs": [
        "NG_012098.1:g.39688A="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS002182"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 39688,
          "referenceAllele": "A",
          "start": 39687
        }
      ],
      "hgvs": [
        "NG_012098.2:g.39688A="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS673578"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 680,
          "referenceAllele": "A",
          "start": 679
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006343",
      "geneNCBI_id": 4254,
      "geneSymbol": "KITLG",
      "hgvs": [
        "ENST00000347404.10:c.107A="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000054216.5:p.Asn36="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS748336"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 300,
          "referenceAllele": "A",
          "start": 299
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006343",
      "geneNCBI_id": 4254,
      "geneSymbol": "KITLG",
      "hgvs": [
        "ENST00000644744.1:c.107A="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000495951.1:p.Asn36="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS767971",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000644744.1:c.107A="
          },
          "RefSeq": {
            "hgvs": "NM_000899.5:c.107A="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000495951.1:p.Asn36="
          },
          "RefSeq": {
            "hgvs": "NP_000890.1:p.Asn36="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 305,
          "referenceAllele": "A",
          "start": 304
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006343",
      "geneNCBI_id": 4254,
      "geneSymbol": "KITLG",
      "hgvs": [
        "ENST00000646633.1:c.*108A="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000494139.1:n.*108A="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS768982"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 290,
          "referenceAllele": "A",
          "start": 289
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006343",
      "geneNCBI_id": 4254,
      "geneSymbol": "KITLG",
      "hgvs": [
        "ENST00000228280.9:c.107A="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000228280.5:p.Asn36="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS248612"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 680,
          "referenceAllele": "A",
          "start": 679
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006343",
      "geneNCBI_id": 4254,
      "geneSymbol": "KITLG",
      "hgvs": [
        "ENST00000347404.9:c.107A="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000054216.5:p.Asn36="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS262356"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 208,
          "endIntronDirection": "+",
          "endIntronOffset": 34490,
          "referenceAllele": "A",
          "start": 208,
          "startIntronDirection": "+",
          "startIntronOffset": 34489
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006343",
      "geneNCBI_id": 4254,
      "geneSymbol": "KITLG",
      "hgvs": [
        "ENST00000357116.4:c.-48+34490A="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000474021.1:n.-48+34490A="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS263987"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 435,
          "referenceAllele": "A",
          "start": 434
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006343",
      "geneNCBI_id": 4254,
      "geneSymbol": "KITLG",
      "hgvs": [
        "ENST00000552044.1:c.-47A="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000475042.1:n.-47A="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS369021"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 302,
          "referenceAllele": "A",
          "start": 301
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006343",
      "geneNCBI_id": 4254,
      "geneSymbol": "KITLG",
      "hgvs": [
        "NM_000899.4:c.107A="
      ],
      "proteinEffect": {
        "hgvs": "NP_000890.1:p.Asn36="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006925"
    },
    {
      "@id": "http://reg.genome.network/allele/PA3079289999",
      "coordinates": [
        {
          "allele": "A",
          "end": 302,
          "referenceAllele": "A",
          "start": 301
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006343",
      "geneNCBI_id": 4254,
      "geneSymbol": "KITLG",
      "hgvs": [
        "NM_003994.5:c.107A="
      ],
      "proteinEffect": {
        "hgvs": "NP_003985.2:p.Asn36="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS029195"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 300,
          "referenceAllele": "A",
          "start": 299
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006343",
      "geneNCBI_id": 4254,
      "geneSymbol": "KITLG",
      "hgvs": [
        "NM_000899.5:c.107A="
      ],
      "proteinEffect": {
        "hgvs": "NP_000890.1:p.Asn36="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS662636",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000644744.1:c.107A="
          },
          "RefSeq": {
            "hgvs": "NM_000899.5:c.107A="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000495951.1:p.Asn36="
          },
          "RefSeq": {
            "hgvs": "NP_000890.1:p.Asn36="
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA3079289999",
      "coordinates": [
        {
          "allele": "A",
          "end": 300,
          "referenceAllele": "A",
          "start": 299
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006343",
      "geneNCBI_id": 4254,
      "geneSymbol": "KITLG",
      "hgvs": [
        "NM_003994.6:c.107A="
      ],
      "proteinEffect": {
        "hgvs": "NP_003985.2:p.Asn36="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS727460"
    }
  ],
  "type": "nucleotide"
}