{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA5285356",
  "communityStandardTitle": [
    "NM_005157.6(ABL1):c.992A>G (p.Asn331Ser)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=1910932[alleleid]",
        "alleleId": 1910932,
        "preferredName": "NM_005157.6(ABL1):c.992A>G (p.Asn331Ser)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/2187293",
        "RCV": [
          "RCV002611490"
        ],
        "variationId": 2187293
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/9-133748331-A-G",
        "id": "9-133748331-A-G",
        "variant": "9:133748331 A / G"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr9:g.133748331A>G?assembly=hg19",
        "id": "chr9:g.133748331A>G"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr9:g.130872944A>G?assembly=hg38",
        "id": "chr9:g.130872944A>G"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/144448357",
        "rs": 144448357
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/9-133748331-A-G?dataset=gnomad_r2_1",
        "id": "9-133748331-A-G",
        "variant": "9:133748331 A / G"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/9-130872944-A-G?dataset=gnomad_r3",
        "id": "9-130872944-A-G",
        "variant": "9:130872944 A / G"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/9-130872944-A-G?dataset=gnomad_r4",
        "id": "9-130872944-A-G",
        "variant": "9:130872944 A / G"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "9",
      "coordinates": [
        {
          "allele": "G",
          "end": 130872944,
          "referenceAllele": "A",
          "start": 130872943
        }
      ],
      "hgvs": [
        "NC_000009.12:g.130872944A>G",
        "CM000671.2:g.130872944A>G"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000057"
    },
    {
      "chromosome": "9",
      "coordinates": [
        {
          "allele": "G",
          "end": 133748331,
          "referenceAllele": "A",
          "start": 133748330
        }
      ],
      "hgvs": [
        "NC_000009.11:g.133748331A>G",
        "CM000671.1:g.133748331A>G"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000033"
    },
    {
      "chromosome": "9",
      "coordinates": [
        {
          "allele": "G",
          "end": 132738152,
          "referenceAllele": "A",
          "start": 132738151
        }
      ],
      "hgvs": [
        "NC_000009.10:g.132738152A>G"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000009"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 164064,
          "referenceAllele": "A",
          "start": 164063
        }
      ],
      "hgvs": [
        "NG_012034.1:g.164064A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS002120"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2326,
          "referenceAllele": "A",
          "start": 2325
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000076",
      "geneNCBI_id": 25,
      "geneSymbol": "ABL1",
      "hgvs": [
        "ENST00000372348.9:c.1049A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000361423.2:p.Asn350Ser",
        "hgvsWellDefined": "ENSP00000361423.2:p.Asn350Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS904516"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1185,
          "referenceAllele": "A",
          "start": 1184
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000076",
      "geneNCBI_id": 25,
      "geneSymbol": "ABL1",
      "hgvs": [
        "ENST00000318560.6:c.992A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000323315.5:p.Asn331Ser",
        "hgvsWellDefined": "ENSP00000323315.5:p.Asn331Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS746227",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000318560.6:c.992A>G"
          },
          "RefSeq": {
            "hgvs": "NM_005157.6:c.992A>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000323315.5:p.Asn331Ser"
          },
          "RefSeq": {
            "hgvs": "NP_005148.2:p.Asn331Ser"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2353,
          "referenceAllele": "A",
          "start": 2352
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000076",
      "geneNCBI_id": 25,
      "geneSymbol": "ABL1",
      "hgvs": [
        "ENST00000372348.7:c.1049A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000361423.2:p.Asn350Ser",
        "hgvsWellDefined": "ENSP00000361423.2:p.Asn350Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS750983"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1373,
          "referenceAllele": "A",
          "start": 1372
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000076",
      "geneNCBI_id": 25,
      "geneSymbol": "ABL1",
      "hgvs": [
        "ENST00000318560.5:c.992A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000323315.5:p.Asn331Ser",
        "hgvsWellDefined": "ENSP00000323315.5:p.Asn331Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS257549"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1423,
          "referenceAllele": "A",
          "start": 1422
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000076",
      "geneNCBI_id": 25,
      "geneSymbol": "ABL1",
      "hgvs": [
        "ENST00000372348.6:c.1049A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000361423.2:p.Asn350Ser",
        "hgvsWellDefined": "ENSP00000361423.2:p.Asn350Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS269049"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829585995",
      "coordinates": [
        {
          "allele": "G",
          "end": 1184,
          "referenceAllele": "A",
          "start": 1183
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000076",
      "geneNCBI_id": 25,
      "geneSymbol": "ABL1",
      "hgvs": [
        "NM_005157.5:c.992A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_005148.2:p.Asn331Ser",
        "hgvsWellDefined": "NP_005148.2:p.Asn331Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS030275"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2580366261",
      "coordinates": [
        {
          "allele": "G",
          "end": 1488,
          "referenceAllele": "A",
          "start": 1487
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000076",
      "geneNCBI_id": 25,
      "geneSymbol": "ABL1",
      "hgvs": [
        "NM_007313.2:c.1049A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_009297.2:p.Asn350Ser",
        "hgvsWellDefined": "NP_009297.2:p.Asn350Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS032220"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829585995",
      "coordinates": [
        {
          "allele": "G",
          "end": 1185,
          "referenceAllele": "A",
          "start": 1184
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000076",
      "geneNCBI_id": 25,
      "geneSymbol": "ABL1",
      "hgvs": [
        "NM_005157.6:c.992A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_005148.2:p.Asn331Ser",
        "hgvsWellDefined": "NP_005148.2:p.Asn331Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS666842",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000318560.6:c.992A>G"
          },
          "RefSeq": {
            "hgvs": "NM_005157.6:c.992A>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000323315.5:p.Asn331Ser"
          },
          "RefSeq": {
            "hgvs": "NP_005148.2:p.Asn331Ser"
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA2580366261",
      "coordinates": [
        {
          "allele": "G",
          "end": 2326,
          "referenceAllele": "A",
          "start": 2325
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000076",
      "geneNCBI_id": 25,
      "geneSymbol": "ABL1",
      "hgvs": [
        "NM_007313.3:c.1049A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_009297.2:p.Asn350Ser",
        "hgvsWellDefined": "NP_009297.2:p.Asn350Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS727829"
    }
  ],
  "type": "nucleotide"
}