{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA375263100",
  "communityStandardTitle": [
    "NM_005157.6(ABL1):c.725T>C (p.Ile242Thr)"
  ],
  "externalRecords": {
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr9:g.133738325T>C?assembly=hg19",
        "id": "chr9:g.133738325T>C"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr9:g.130862938T>C?assembly=hg38",
        "id": "chr9:g.130862938T>C"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/2132973943",
        "rs": 2132973943
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "9",
      "coordinates": [
        {
          "allele": "C",
          "end": 130862938,
          "referenceAllele": "T",
          "start": 130862937
        }
      ],
      "hgvs": [
        "NC_000009.12:g.130862938T>C",
        "CM000671.2:g.130862938T>C"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000057"
    },
    {
      "chromosome": "9",
      "coordinates": [
        {
          "allele": "C",
          "end": 133738325,
          "referenceAllele": "T",
          "start": 133738324
        }
      ],
      "hgvs": [
        "NC_000009.11:g.133738325T>C",
        "CM000671.1:g.133738325T>C"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000033"
    },
    {
      "chromosome": "9",
      "coordinates": [
        {
          "allele": "C",
          "end": 132728146,
          "referenceAllele": "T",
          "start": 132728145
        }
      ],
      "hgvs": [
        "NC_000009.10:g.132728146T>C"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000009"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 154058,
          "referenceAllele": "T",
          "start": 154057
        }
      ],
      "hgvs": [
        "NG_012034.1:g.154058T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS002120"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2059,
          "referenceAllele": "T",
          "start": 2058
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000076",
      "geneNCBI_id": 25,
      "geneSymbol": "ABL1",
      "hgvs": [
        "ENST00000372348.9:c.782T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000361423.2:p.Ile261Thr",
        "hgvsWellDefined": "ENSP00000361423.2:p.Ile261Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS904516"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 918,
          "referenceAllele": "T",
          "start": 917
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000076",
      "geneNCBI_id": 25,
      "geneSymbol": "ABL1",
      "hgvs": [
        "ENST00000318560.6:c.725T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000323315.5:p.Ile242Thr",
        "hgvsWellDefined": "ENSP00000323315.5:p.Ile242Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS746227",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000318560.6:c.725T>C"
          },
          "RefSeq": {
            "hgvs": "NM_005157.6:c.725T>C"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000323315.5:p.Ile242Thr"
          },
          "RefSeq": {
            "hgvs": "NP_005148.2:p.Ile242Thr"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2086,
          "referenceAllele": "T",
          "start": 2085
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000076",
      "geneNCBI_id": 25,
      "geneSymbol": "ABL1",
      "hgvs": [
        "ENST00000372348.7:c.782T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000361423.2:p.Ile261Thr",
        "hgvsWellDefined": "ENSP00000361423.2:p.Ile261Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS750983"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1106,
          "referenceAllele": "T",
          "start": 1105
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000076",
      "geneNCBI_id": 25,
      "geneSymbol": "ABL1",
      "hgvs": [
        "ENST00000318560.5:c.725T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000323315.5:p.Ile242Thr",
        "hgvsWellDefined": "ENSP00000323315.5:p.Ile242Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS257549"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1156,
          "referenceAllele": "T",
          "start": 1155
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000076",
      "geneNCBI_id": 25,
      "geneSymbol": "ABL1",
      "hgvs": [
        "ENST00000372348.6:c.782T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000361423.2:p.Ile261Thr",
        "hgvsWellDefined": "ENSP00000361423.2:p.Ile261Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS269049"
    },
    {
      "@id": "http://reg.genome.network/allele/PA3076444739",
      "coordinates": [
        {
          "allele": "C",
          "end": 917,
          "referenceAllele": "T",
          "start": 916
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000076",
      "geneNCBI_id": 25,
      "geneSymbol": "ABL1",
      "hgvs": [
        "NM_005157.5:c.725T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_005148.2:p.Ile242Thr",
        "hgvsWellDefined": "NP_005148.2:p.Ile242Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS030275"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1221,
          "referenceAllele": "T",
          "start": 1220
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000076",
      "geneNCBI_id": 25,
      "geneSymbol": "ABL1",
      "hgvs": [
        "NM_007313.2:c.782T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_009297.2:p.Ile261Thr",
        "hgvsWellDefined": "NP_009297.2:p.Ile261Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS032220"
    },
    {
      "@id": "http://reg.genome.network/allele/PA3076444739",
      "coordinates": [
        {
          "allele": "C",
          "end": 918,
          "referenceAllele": "T",
          "start": 917
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000076",
      "geneNCBI_id": 25,
      "geneSymbol": "ABL1",
      "hgvs": [
        "NM_005157.6:c.725T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_005148.2:p.Ile242Thr",
        "hgvsWellDefined": "NP_005148.2:p.Ile242Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS666842",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000318560.6:c.725T>C"
          },
          "RefSeq": {
            "hgvs": "NM_005157.6:c.725T>C"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000323315.5:p.Ile242Thr"
          },
          "RefSeq": {
            "hgvs": "NP_005148.2:p.Ile242Thr"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2059,
          "referenceAllele": "T",
          "start": 2058
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000076",
      "geneNCBI_id": 25,
      "geneSymbol": "ABL1",
      "hgvs": [
        "NM_007313.3:c.782T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_009297.2:p.Ile261Thr",
        "hgvsWellDefined": "NP_009297.2:p.Ile261Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS727829"
    }
  ],
  "type": "nucleotide"
}