{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA122581",
  "communityStandardTitle": [
    "NM_005157.6(ABL1):c.706G>A (p.Glu236Lys)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=27665[alleleid]",
        "alleleId": 27665,
        "preferredName": "NM_005157.6(ABL1):c.706G>A (p.Glu236Lys)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/12626",
        "RCV": [
          "RCV000013461",
          "RCV000417997"
        ],
        "variationId": 12626
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr9:g.133738306G>A?assembly=hg19",
        "id": "chr9:g.133738306G>A"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr9:g.130862919G>A?assembly=hg38",
        "id": "chr9:g.130862919G>A"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/387906517",
        "rs": 387906517
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "9",
      "coordinates": [
        {
          "allele": "A",
          "end": 130862919,
          "referenceAllele": "G",
          "start": 130862918
        }
      ],
      "hgvs": [
        "NC_000009.12:g.130862919G>A",
        "CM000671.2:g.130862919G>A"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000057"
    },
    {
      "chromosome": "9",
      "coordinates": [
        {
          "allele": "A",
          "end": 133738306,
          "referenceAllele": "G",
          "start": 133738305
        }
      ],
      "hgvs": [
        "NC_000009.11:g.133738306G>A",
        "CM000671.1:g.133738306G>A"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000033"
    },
    {
      "chromosome": "9",
      "coordinates": [
        {
          "allele": "A",
          "end": 132728127,
          "referenceAllele": "G",
          "start": 132728126
        }
      ],
      "hgvs": [
        "NC_000009.10:g.132728127G>A"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000009"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 154039,
          "referenceAllele": "G",
          "start": 154038
        }
      ],
      "hgvs": [
        "NG_012034.1:g.154039G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS002120"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2040,
          "referenceAllele": "G",
          "start": 2039
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000076",
      "geneNCBI_id": 25,
      "geneSymbol": "ABL1",
      "hgvs": [
        "ENST00000372348.9:c.763G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000361423.2:p.Glu255Lys",
        "hgvsWellDefined": "ENSP00000361423.2:p.Glu255Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS904516"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 899,
          "referenceAllele": "G",
          "start": 898
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000076",
      "geneNCBI_id": 25,
      "geneSymbol": "ABL1",
      "hgvs": [
        "ENST00000318560.6:c.706G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000323315.5:p.Glu236Lys",
        "hgvsWellDefined": "ENSP00000323315.5:p.Glu236Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS746227",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000318560.6:c.706G>A"
          },
          "RefSeq": {
            "hgvs": "NM_005157.6:c.706G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000323315.5:p.Glu236Lys"
          },
          "RefSeq": {
            "hgvs": "NP_005148.2:p.Glu236Lys"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2067,
          "referenceAllele": "G",
          "start": 2066
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000076",
      "geneNCBI_id": 25,
      "geneSymbol": "ABL1",
      "hgvs": [
        "ENST00000372348.7:c.763G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000361423.2:p.Glu255Lys",
        "hgvsWellDefined": "ENSP00000361423.2:p.Glu255Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS750983"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1087,
          "referenceAllele": "G",
          "start": 1086
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000076",
      "geneNCBI_id": 25,
      "geneSymbol": "ABL1",
      "hgvs": [
        "ENST00000318560.5:c.706G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000323315.5:p.Glu236Lys",
        "hgvsWellDefined": "ENSP00000323315.5:p.Glu236Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS257549"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1137,
          "referenceAllele": "G",
          "start": 1136
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000076",
      "geneNCBI_id": 25,
      "geneSymbol": "ABL1",
      "hgvs": [
        "ENST00000372348.6:c.763G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000361423.2:p.Glu255Lys",
        "hgvsWellDefined": "ENSP00000361423.2:p.Glu255Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS269049"
    },
    {
      "@id": "http://reg.genome.network/allele/PA122582",
      "coordinates": [
        {
          "allele": "A",
          "end": 898,
          "referenceAllele": "G",
          "start": 897
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000076",
      "geneNCBI_id": 25,
      "geneSymbol": "ABL1",
      "hgvs": [
        "NM_005157.5:c.706G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_005148.2:p.Glu236Lys",
        "hgvsWellDefined": "NP_005148.2:p.Glu236Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS030275"
    },
    {
      "@id": "http://reg.genome.network/allele/PA122583",
      "coordinates": [
        {
          "allele": "A",
          "end": 1202,
          "referenceAllele": "G",
          "start": 1201
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000076",
      "geneNCBI_id": 25,
      "geneSymbol": "ABL1",
      "hgvs": [
        "NM_007313.2:c.763G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_009297.2:p.Glu255Lys",
        "hgvsWellDefined": "NP_009297.2:p.Glu255Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS032220"
    },
    {
      "@id": "http://reg.genome.network/allele/PA122582",
      "coordinates": [
        {
          "allele": "A",
          "end": 899,
          "referenceAllele": "G",
          "start": 898
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000076",
      "geneNCBI_id": 25,
      "geneSymbol": "ABL1",
      "hgvs": [
        "NM_005157.6:c.706G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_005148.2:p.Glu236Lys",
        "hgvsWellDefined": "NP_005148.2:p.Glu236Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS666842",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000318560.6:c.706G>A"
          },
          "RefSeq": {
            "hgvs": "NM_005157.6:c.706G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000323315.5:p.Glu236Lys"
          },
          "RefSeq": {
            "hgvs": "NP_005148.2:p.Glu236Lys"
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA122583",
      "coordinates": [
        {
          "allele": "A",
          "end": 2040,
          "referenceAllele": "G",
          "start": 2039
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000076",
      "geneNCBI_id": 25,
      "geneSymbol": "ABL1",
      "hgvs": [
        "NM_007313.3:c.763G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_009297.2:p.Glu255Lys",
        "hgvsWellDefined": "NP_009297.2:p.Glu255Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS727829"
    }
  ],
  "type": "nucleotide"
}