{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA375263131",
  "communityStandardTitle": [
    "NM_005157.6(ABL1):c.730A>C (p.Met244Leu)"
  ],
  "externalRecords": {
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr9:g.133738330A>C?assembly=hg19",
        "id": "chr9:g.133738330A>C"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr9:g.130862943A>C?assembly=hg38",
        "id": "chr9:g.130862943A>C"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/121913456",
        "rs": 121913456
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/9-130862943-A-C?dataset=gnomad_r4",
        "id": "9-130862943-A-C",
        "variant": "9:130862943 A / C"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "9",
      "coordinates": [
        {
          "allele": "C",
          "end": 130862943,
          "referenceAllele": "A",
          "start": 130862942
        }
      ],
      "hgvs": [
        "NC_000009.12:g.130862943A>C",
        "CM000671.2:g.130862943A>C"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000057"
    },
    {
      "chromosome": "9",
      "coordinates": [
        {
          "allele": "C",
          "end": 133738330,
          "referenceAllele": "A",
          "start": 133738329
        }
      ],
      "hgvs": [
        "NC_000009.11:g.133738330A>C",
        "CM000671.1:g.133738330A>C"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000033"
    },
    {
      "chromosome": "9",
      "coordinates": [
        {
          "allele": "C",
          "end": 132728151,
          "referenceAllele": "A",
          "start": 132728150
        }
      ],
      "hgvs": [
        "NC_000009.10:g.132728151A>C"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000009"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 154063,
          "referenceAllele": "A",
          "start": 154062
        }
      ],
      "hgvs": [
        "NG_012034.1:g.154063A>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS002120"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2064,
          "referenceAllele": "A",
          "start": 2063
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000076",
      "geneNCBI_id": 25,
      "geneSymbol": "ABL1",
      "hgvs": [
        "ENST00000372348.9:c.787A>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000361423.2:p.Met263Leu",
        "hgvsWellDefined": "ENSP00000361423.2:p.Met263Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS904516"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 923,
          "referenceAllele": "A",
          "start": 922
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000076",
      "geneNCBI_id": 25,
      "geneSymbol": "ABL1",
      "hgvs": [
        "ENST00000318560.6:c.730A>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000323315.5:p.Met244Leu",
        "hgvsWellDefined": "ENSP00000323315.5:p.Met244Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS746227",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000318560.6:c.730A>C"
          },
          "RefSeq": {
            "hgvs": "NM_005157.6:c.730A>C"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000323315.5:p.Met244Leu"
          },
          "RefSeq": {
            "hgvs": "NP_005148.2:p.Met244Leu"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2091,
          "referenceAllele": "A",
          "start": 2090
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000076",
      "geneNCBI_id": 25,
      "geneSymbol": "ABL1",
      "hgvs": [
        "ENST00000372348.7:c.787A>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000361423.2:p.Met263Leu",
        "hgvsWellDefined": "ENSP00000361423.2:p.Met263Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS750983"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1111,
          "referenceAllele": "A",
          "start": 1110
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000076",
      "geneNCBI_id": 25,
      "geneSymbol": "ABL1",
      "hgvs": [
        "ENST00000318560.5:c.730A>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000323315.5:p.Met244Leu",
        "hgvsWellDefined": "ENSP00000323315.5:p.Met244Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS257549"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1161,
          "referenceAllele": "A",
          "start": 1160
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000076",
      "geneNCBI_id": 25,
      "geneSymbol": "ABL1",
      "hgvs": [
        "ENST00000372348.6:c.787A>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000361423.2:p.Met263Leu",
        "hgvsWellDefined": "ENSP00000361423.2:p.Met263Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS269049"
    },
    {
      "@id": "http://reg.genome.network/allele/PA3075625852",
      "coordinates": [
        {
          "allele": "C",
          "end": 922,
          "referenceAllele": "A",
          "start": 921
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000076",
      "geneNCBI_id": 25,
      "geneSymbol": "ABL1",
      "hgvs": [
        "NM_005157.5:c.730A>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_005148.2:p.Met244Leu",
        "hgvsWellDefined": "NP_005148.2:p.Met244Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS030275"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1226,
          "referenceAllele": "A",
          "start": 1225
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000076",
      "geneNCBI_id": 25,
      "geneSymbol": "ABL1",
      "hgvs": [
        "NM_007313.2:c.787A>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_009297.2:p.Met263Leu",
        "hgvsWellDefined": "NP_009297.2:p.Met263Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS032220"
    },
    {
      "@id": "http://reg.genome.network/allele/PA3075625852",
      "coordinates": [
        {
          "allele": "C",
          "end": 923,
          "referenceAllele": "A",
          "start": 922
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000076",
      "geneNCBI_id": 25,
      "geneSymbol": "ABL1",
      "hgvs": [
        "NM_005157.6:c.730A>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_005148.2:p.Met244Leu",
        "hgvsWellDefined": "NP_005148.2:p.Met244Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS666842",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000318560.6:c.730A>C"
          },
          "RefSeq": {
            "hgvs": "NM_005157.6:c.730A>C"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000323315.5:p.Met244Leu"
          },
          "RefSeq": {
            "hgvs": "NP_005148.2:p.Met244Leu"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2064,
          "referenceAllele": "A",
          "start": 2063
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000076",
      "geneNCBI_id": 25,
      "geneSymbol": "ABL1",
      "hgvs": [
        "NM_007313.3:c.787A>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_009297.2:p.Met263Leu",
        "hgvsWellDefined": "NP_009297.2:p.Met263Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS727829"
    }
  ],
  "type": "nucleotide"
}