{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA363426985",
  "communityStandardTitle": [
    "NM_019101.3(APOM):c.296A>T (p.Lys99Ile)"
  ],
  "externalRecords": {
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr6:g.31625028A>T?assembly=hg19",
        "id": "chr6:g.31625028A>T"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr6:g.31657251A>T?assembly=hg38",
        "id": "chr6:g.31657251A>T"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "6",
      "coordinates": [
        {
          "allele": "T",
          "end": 31657251,
          "referenceAllele": "A",
          "start": 31657250
        }
      ],
      "hgvs": [
        "NC_000006.12:g.31657251A>T",
        "CM000668.2:g.31657251A>T"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000054"
    },
    {
      "chromosome": "6",
      "coordinates": [
        {
          "allele": "T",
          "end": 31625028,
          "referenceAllele": "A",
          "start": 31625027
        }
      ],
      "hgvs": [
        "NC_000006.11:g.31625028A>T",
        "CM000668.1:g.31625028A>T"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000030"
    },
    {
      "chromosome": "6",
      "coordinates": [
        {
          "allele": "T",
          "end": 31733007,
          "referenceAllele": "A",
          "start": 31733006
        }
      ],
      "hgvs": [
        "NC_000006.10:g.31733007A>T"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000006"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 369,
          "referenceAllele": "A",
          "start": 368
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013916",
      "geneNCBI_id": 55937,
      "geneSymbol": "APOM",
      "hgvs": [
        "ENST00000375916.4:c.296A>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000365081.3:p.Lys99Ile",
        "hgvsWellDefined": "ENSP00000365081.3:p.Lys99Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS751691",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000375916.4:c.296A>T"
          },
          "RefSeq": {
            "hgvs": "NM_019101.3:c.296A>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000365081.3:p.Lys99Ile"
          },
          "RefSeq": {
            "hgvs": "NP_061974.2:p.Lys99Ile"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 792,
          "referenceAllele": "A",
          "start": 791
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013916",
      "geneNCBI_id": 55937,
      "geneSymbol": "APOM",
      "hgvs": [
        "ENST00000375916.3:c.296A>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000365081.3:p.Lys99Ile",
        "hgvsWellDefined": "ENSP00000365081.3:p.Lys99Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS270935"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 318,
          "referenceAllele": "A",
          "start": 317
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013916",
      "geneNCBI_id": 55937,
      "geneSymbol": "APOM",
      "hgvs": [
        "ENST00000375918.6:c.80A>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000365083.2:p.Lys27Ile",
        "hgvsWellDefined": "ENSP00000365083.2:p.Lys27Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS270936"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 317,
          "referenceAllele": "A",
          "start": 316
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013916",
      "geneNCBI_id": 55937,
      "geneSymbol": "APOM",
      "hgvs": [
        "ENST00000375920.8:c.80A>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000365085.4:p.Lys27Ile",
        "hgvsWellDefined": "ENSP00000365085.4:p.Lys27Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS270937"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 324,
          "referenceAllele": "A",
          "start": 323
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013916",
      "geneNCBI_id": 55937,
      "geneSymbol": "APOM",
      "hgvs": [
        "NM_001256169.1:c.80A>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001243098.1:p.Lys27Ile",
        "hgvsWellDefined": "NP_001243098.1:p.Lys27Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS019121"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 369,
          "referenceAllele": "A",
          "start": 368
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013916",
      "geneNCBI_id": 55937,
      "geneSymbol": "APOM",
      "hgvs": [
        "NM_019101.2:c.296A>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_061974.2:p.Lys99Ile",
        "hgvsWellDefined": "NP_061974.2:p.Lys99Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS036089"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 331,
          "referenceAllele": "A",
          "start": 330
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013916",
      "geneNCBI_id": 55937,
      "geneSymbol": "APOM",
      "hgvs": [
        "NR_045828.1:n.331A>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS051430"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1074,
          "referenceAllele": "A",
          "start": 1073
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013916",
      "geneNCBI_id": 55937,
      "geneSymbol": "APOM",
      "hgvs": [
        "XM_006715150.2:c.200A>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_006715213.1:p.Lys67Ile",
        "hgvsWellDefined": "XP_006715213.1:p.Lys67Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS071032"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 447,
          "endIntronDirection": "+",
          "endIntronOffset": 3070,
          "referenceAllele": "T",
          "start": 447,
          "startIntronDirection": "+",
          "startIntronOffset": 3069
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013919",
      "geneNCBI_id": 7917,
      "geneSymbol": "BAG6",
      "hgvs": [
        "XM_011514895.1:c.-14+3070T>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011513197.1:n.-14+3070T>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS082117"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 353,
          "referenceAllele": "A",
          "start": 352
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013916",
      "geneNCBI_id": 55937,
      "geneSymbol": "APOM",
      "hgvs": [
        "XM_006715150.3:c.200A>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_006715213.1:p.Lys67Ile",
        "hgvsWellDefined": "XP_006715213.1:p.Lys67Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS538881"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 580,
          "endIntronDirection": "+",
          "endIntronOffset": 3070,
          "referenceAllele": "T",
          "start": 580,
          "startIntronDirection": "+",
          "startIntronOffset": 3069
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013919",
      "geneNCBI_id": 7917,
      "geneSymbol": "BAG6",
      "hgvs": [
        "XM_017011279.2:c.-14+3070T>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_016866768.1:n.-14+3070T>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS565156"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 22,
          "endIntronDirection": "+",
          "endIntronOffset": 513,
          "referenceAllele": "T",
          "start": 22,
          "startIntronDirection": "+",
          "startIntronOffset": 512
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013919",
      "geneNCBI_id": 7917,
      "geneSymbol": "BAG6",
      "hgvs": [
        "XM_024446545.1:c.-14+513T>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_024302313.1:n.-14+513T>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS580205"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 369,
          "referenceAllele": "A",
          "start": 368
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013916",
      "geneNCBI_id": 55937,
      "geneSymbol": "APOM",
      "hgvs": [
        "NM_019101.3:c.296A>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_061974.2:p.Lys99Ile",
        "hgvsWellDefined": "NP_061974.2:p.Lys99Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS669841",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000375916.4:c.296A>T"
          },
          "RefSeq": {
            "hgvs": "NM_019101.3:c.296A>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000365081.3:p.Lys99Ile"
          },
          "RefSeq": {
            "hgvs": "NP_061974.2:p.Lys99Ile"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 330,
          "referenceAllele": "A",
          "start": 329
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013916",
      "geneNCBI_id": 55937,
      "geneSymbol": "APOM",
      "hgvs": [
        "NM_001256169.2:c.80A>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001243098.1:p.Lys27Ile",
        "hgvsWellDefined": "NP_001243098.1:p.Lys27Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS680507"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 337,
          "referenceAllele": "A",
          "start": 336
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013916",
      "geneNCBI_id": 55937,
      "geneSymbol": "APOM",
      "hgvs": [
        "NR_045828.2:n.337A>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS702415"
    }
  ],
  "type": "nucleotide"
}