{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA12039413",
  "communityStandardTitle": [
    "NM_001155.5(ANXA6):c.1056+447A>G"
  ],
  "externalRecords": {
    "COSMIC": [
      {
        "active": false,
        "id": "COSN14905225"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr5:g.150505516T>C?assembly=hg19",
        "id": "chr5:g.150505516T>C"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr5:g.151125955T>C?assembly=hg38",
        "id": "chr5:g.151125955T>C"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/10037814",
        "rs": 10037814
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/5-150505516-T-C?dataset=gnomad_r2_1",
        "id": "5-150505516-T-C",
        "variant": "5:150505516 T / C"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/5-151125955-T-C?dataset=gnomad_r3",
        "id": "5-151125955-T-C",
        "variant": "5:151125955 T / C"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/5-151125955-T-C?dataset=gnomad_r4",
        "id": "5-151125955-T-C",
        "variant": "5:151125955 T / C"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "5",
      "coordinates": [
        {
          "allele": "C",
          "end": 151125955,
          "referenceAllele": "T",
          "start": 151125954
        }
      ],
      "hgvs": [
        "NC_000005.10:g.151125955T>C",
        "CM000667.2:g.151125955T>C"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000053"
    },
    {
      "chromosome": "5",
      "coordinates": [
        {
          "allele": "C",
          "end": 150505516,
          "referenceAllele": "T",
          "start": 150505515
        }
      ],
      "hgvs": [
        "NC_000005.9:g.150505516T>C",
        "CM000667.1:g.150505516T>C"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000029"
    },
    {
      "chromosome": "5",
      "coordinates": [
        {
          "allele": "C",
          "end": 150485709,
          "referenceAllele": "T",
          "start": 150485708
        }
      ],
      "hgvs": [
        "NC_000005.8:g.150485709T>C"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000005"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1217,
          "endIntronDirection": "+",
          "endIntronOffset": 447,
          "referenceAllele": "A",
          "start": 1217,
          "startIntronDirection": "+",
          "startIntronOffset": 446
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000544",
      "geneNCBI_id": 309,
      "geneSymbol": "ANXA6",
      "hgvs": [
        "ENST00000700367.1:c.1056+447A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000514965.1:n.1056+447A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS911165"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1181,
          "endIntronDirection": "+",
          "endIntronOffset": 447,
          "referenceAllele": "A",
          "start": 1181,
          "startIntronDirection": "+",
          "startIntronOffset": 446
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000544",
      "geneNCBI_id": 309,
      "geneSymbol": "ANXA6",
      "hgvs": [
        "ENST00000354546.10:c.1056+447A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000346550.5:n.1056+447A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS748577",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000354546.10:c.1056+447A>G"
          },
          "RefSeq": {
            "hgvs": "NM_001155.5:c.1056+447A>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000346550.5:n.1056+447A>G"
          },
          "RefSeq": {
            "hgvs": "NP_001146.2:n.1056+447A>G"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1284,
          "endIntronDirection": "+",
          "endIntronOffset": 447,
          "referenceAllele": "A",
          "start": 1284,
          "startIntronDirection": "+",
          "startIntronOffset": 446
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000544",
      "geneNCBI_id": 309,
      "geneSymbol": "ANXA6",
      "hgvs": [
        "ENST00000354546.9:c.1056+447A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000346550.5:n.1056+447A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS263159"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 302,
          "endIntronDirection": "-",
          "endIntronOffset": 3694,
          "referenceAllele": "A",
          "start": 302,
          "startIntronDirection": "-",
          "startIntronOffset": 3695
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000544",
      "geneNCBI_id": 309,
      "geneSymbol": "ANXA6",
      "hgvs": [
        "ENST00000377751.9:c.205-3695A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000366980.5:n.205-3695A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS271719"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 411,
          "endIntronDirection": "+",
          "endIntronOffset": 12723,
          "referenceAllele": "A",
          "start": 411,
          "startIntronDirection": "+",
          "startIntronOffset": 12722
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000544",
      "geneNCBI_id": 309,
      "geneSymbol": "ANXA6",
      "hgvs": [
        "ENST00000517486.5:c.318+12723A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000428916.1:n.318+12723A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS345158"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 420,
          "endIntronDirection": "+",
          "endIntronOffset": 447,
          "referenceAllele": "A",
          "start": 420,
          "startIntronDirection": "+",
          "startIntronOffset": 446
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000544",
      "geneNCBI_id": 309,
      "geneSymbol": "ANXA6",
      "hgvs": [
        "ENST00000519644.6:c.*19+447A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000430663.2:n.*19+447A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS346854"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 270,
          "endIntronDirection": "+",
          "endIntronOffset": 447,
          "referenceAllele": "A",
          "start": 270,
          "startIntronDirection": "+",
          "startIntronOffset": 446
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000544",
      "geneNCBI_id": 309,
      "geneSymbol": "ANXA6",
      "hgvs": [
        "ENST00000520054.1:n.270+447A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS347174"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 541,
          "endIntronDirection": "+",
          "endIntronOffset": 447,
          "referenceAllele": "A",
          "start": 541,
          "startIntronDirection": "+",
          "startIntronOffset": 446
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000544",
      "geneNCBI_id": 309,
      "geneSymbol": "ANXA6",
      "hgvs": [
        "ENST00000521512.5:c.435+447A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000430420.1:n.435+447A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS348310"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1146,
          "endIntronDirection": "+",
          "endIntronOffset": 447,
          "referenceAllele": "A",
          "start": 1146,
          "startIntronDirection": "+",
          "startIntronOffset": 446
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000544",
      "geneNCBI_id": 309,
      "geneSymbol": "ANXA6",
      "hgvs": [
        "ENST00000523714.5:c.960+447A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000430517.1:n.960+447A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS350031"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1284,
          "endIntronDirection": "+",
          "endIntronOffset": 447,
          "referenceAllele": "A",
          "start": 1284,
          "startIntronDirection": "+",
          "startIntronOffset": 446
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000544",
      "geneNCBI_id": 309,
      "geneSymbol": "ANXA6",
      "hgvs": [
        "NM_001155.4:c.1056+447A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001146.2:n.1056+447A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS014001"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1161,
          "endIntronDirection": "+",
          "endIntronOffset": 447,
          "referenceAllele": "A",
          "start": 1161,
          "startIntronDirection": "+",
          "startIntronOffset": 446
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000544",
      "geneNCBI_id": 309,
      "geneSymbol": "ANXA6",
      "hgvs": [
        "NM_001193544.1:c.960+447A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001180473.1:n.960+447A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS016445"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1284,
          "endIntronDirection": "+",
          "endIntronOffset": 447,
          "referenceAllele": "A",
          "start": 1284,
          "startIntronDirection": "+",
          "startIntronOffset": 446
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000544",
      "geneNCBI_id": 309,
      "geneSymbol": "ANXA6",
      "hgvs": [
        "XM_005268432.3:c.1056+447A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_005268489.1:n.1056+447A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS065750"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1284,
          "endIntronDirection": "+",
          "endIntronOffset": 447,
          "referenceAllele": "A",
          "start": 1284,
          "startIntronDirection": "+",
          "startIntronOffset": 446
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000544",
      "geneNCBI_id": 309,
      "geneSymbol": "ANXA6",
      "hgvs": [
        "NM_001363114.1:c.1056+447A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001350043.1:n.1056+447A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS523180"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1181,
          "endIntronDirection": "+",
          "endIntronOffset": 447,
          "referenceAllele": "A",
          "start": 1181,
          "startIntronDirection": "+",
          "startIntronOffset": 446
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000544",
      "geneNCBI_id": 309,
      "geneSymbol": "ANXA6",
      "hgvs": [
        "NM_001155.5:c.1056+447A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001146.2:n.1056+447A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS663806",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000354546.10:c.1056+447A>G"
          },
          "RefSeq": {
            "hgvs": "NM_001155.5:c.1056+447A>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000346550.5:n.1056+447A>G"
          },
          "RefSeq": {
            "hgvs": "NP_001146.2:n.1056+447A>G"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1190,
          "endIntronDirection": "+",
          "endIntronOffset": 447,
          "referenceAllele": "A",
          "start": 1190,
          "startIntronDirection": "+",
          "startIntronOffset": 446
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000544",
      "geneNCBI_id": 309,
      "geneSymbol": "ANXA6",
      "hgvs": [
        "NM_001193544.2:c.960+447A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001180473.1:n.960+447A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS679246"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1181,
          "endIntronDirection": "+",
          "endIntronOffset": 447,
          "referenceAllele": "A",
          "start": 1181,
          "startIntronDirection": "+",
          "startIntronOffset": 446
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000544",
      "geneNCBI_id": 309,
      "geneSymbol": "ANXA6",
      "hgvs": [
        "NM_001363114.2:c.1056+447A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001350043.1:n.1056+447A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS690608"
    }
  ],
  "type": "nucleotide"
}