{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA13651627",
  "communityStandardTitle": [
    "NM_000899.5(KITLG):c.*325T>C"
  ],
  "externalRecords": {
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr12:g.88890671A>G?assembly=hg19",
        "id": "chr12:g.88890671A>G"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr12:g.88496894A>G?assembly=hg38",
        "id": "chr12:g.88496894A>G"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/995030",
        "rs": 995030
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/12-88890671-A-G?dataset=gnomad_r2_1",
        "id": "12-88890671-A-G",
        "variant": "12:88890671 A / G"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/12-88496894-A-G?dataset=gnomad_r3",
        "id": "12-88496894-A-G",
        "variant": "12:88496894 A / G"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/12-88496894-A-G?dataset=gnomad_r4",
        "id": "12-88496894-A-G",
        "variant": "12:88496894 A / G"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "12",
      "coordinates": [
        {
          "allele": "G",
          "end": 88496894,
          "referenceAllele": "A",
          "start": 88496893
        }
      ],
      "hgvs": [
        "NC_000012.12:g.88496894A>G",
        "CM000674.2:g.88496894A>G"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000060"
    },
    {
      "chromosome": "12",
      "coordinates": [
        {
          "allele": "G",
          "end": 88890671,
          "referenceAllele": "A",
          "start": 88890670
        }
      ],
      "hgvs": [
        "NC_000012.11:g.88890671A>G",
        "CM000674.1:g.88890671A>G"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000036"
    },
    {
      "chromosome": "12",
      "coordinates": [
        {
          "allele": "G",
          "end": 87414802,
          "referenceAllele": "A",
          "start": 87414801
        }
      ],
      "hgvs": [
        "NC_000012.10:g.87414802A>G"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000012"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 88568,
          "referenceAllele": "T",
          "start": 88567
        }
      ],
      "hgvs": [
        "NG_012098.1:g.88568T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS002182"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 88568,
          "referenceAllele": "T",
          "start": 88567
        }
      ],
      "hgvs": [
        "NG_012098.2:g.88568T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS673578"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1636,
          "referenceAllele": "T",
          "start": 1635
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006343",
      "geneNCBI_id": 4254,
      "geneSymbol": "KITLG",
      "hgvs": [
        "ENST00000347404.10:c.*325T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000054216.5:n.*325T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS748336"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1340,
          "referenceAllele": "T",
          "start": 1339
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006343",
      "geneNCBI_id": 4254,
      "geneSymbol": "KITLG",
      "hgvs": [
        "ENST00000644744.1:c.*325T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000495951.1:n.*325T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS767971",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000644744.1:c.*325T>C"
          },
          "RefSeq": {
            "hgvs": "NM_000899.5:c.*325T>C"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000495951.1:n.*325T>C"
          },
          "RefSeq": {
            "hgvs": "NP_000890.1:n.*325T>C"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1345,
          "referenceAllele": "T",
          "start": 1344
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006343",
      "geneNCBI_id": 4254,
      "geneSymbol": "KITLG",
      "hgvs": [
        "ENST00000646633.1:c.*1148T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000494139.1:n.*1148T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS768982"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1330,
          "referenceAllele": "T",
          "start": 1329
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006343",
      "geneNCBI_id": 4254,
      "geneSymbol": "KITLG",
      "hgvs": [
        "ENST00000228280.9:c.*325T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000228280.5:n.*325T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS248612"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1636,
          "referenceAllele": "T",
          "start": 1635
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006343",
      "geneNCBI_id": 4254,
      "geneSymbol": "KITLG",
      "hgvs": [
        "ENST00000347404.9:c.*325T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000054216.5:n.*325T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS262356"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1090,
          "referenceAllele": "T",
          "start": 1089
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006343",
      "geneNCBI_id": 4254,
      "geneSymbol": "KITLG",
      "hgvs": [
        "ENST00000378535.4:n.1090T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS272075"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1342,
          "referenceAllele": "T",
          "start": 1341
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006343",
      "geneNCBI_id": 4254,
      "geneSymbol": "KITLG",
      "hgvs": [
        "NM_000899.4:c.*325T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_000890.1:n.*325T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006925"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1258,
          "referenceAllele": "T",
          "start": 1257
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006343",
      "geneNCBI_id": 4254,
      "geneSymbol": "KITLG",
      "hgvs": [
        "NM_003994.5:c.*325T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_003985.2:n.*325T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS029195"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1340,
          "referenceAllele": "T",
          "start": 1339
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006343",
      "geneNCBI_id": 4254,
      "geneSymbol": "KITLG",
      "hgvs": [
        "NM_000899.5:c.*325T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_000890.1:n.*325T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS662636",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000644744.1:c.*325T>C"
          },
          "RefSeq": {
            "hgvs": "NM_000899.5:c.*325T>C"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000495951.1:n.*325T>C"
          },
          "RefSeq": {
            "hgvs": "NP_000890.1:n.*325T>C"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1256,
          "referenceAllele": "T",
          "start": 1255
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006343",
      "geneNCBI_id": 4254,
      "geneSymbol": "KITLG",
      "hgvs": [
        "NM_003994.6:c.*325T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_003985.2:n.*325T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS727460"
    }
  ],
  "type": "nucleotide"
}