{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA372136429",
  "communityStandardTitle": [
    "NM_004306.4(ANXA13):c.15+1529C>G"
  ],
  "externalRecords": {
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr8:g.124748031G>C?assembly=hg19",
        "id": "chr8:g.124748031G>C"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr8:g.123735791G>C?assembly=hg38",
        "id": "chr8:g.123735791G>C"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "8",
      "coordinates": [
        {
          "allele": "C",
          "end": 123735791,
          "referenceAllele": "G",
          "start": 123735790
        }
      ],
      "hgvs": [
        "NC_000008.11:g.123735791G>C",
        "CM000670.2:g.123735791G>C"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000056"
    },
    {
      "chromosome": "8",
      "coordinates": [
        {
          "allele": "C",
          "end": 124748031,
          "referenceAllele": "G",
          "start": 124748030
        }
      ],
      "hgvs": [
        "NC_000008.10:g.124748031G>C",
        "CM000670.1:g.124748031G>C"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000032"
    },
    {
      "chromosome": "8",
      "coordinates": [
        {
          "allele": "C",
          "end": 124817212,
          "referenceAllele": "G",
          "start": 124817211
        }
      ],
      "hgvs": [
        "NC_000008.9:g.124817212G>C"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000008"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 74,
          "endIntronDirection": "+",
          "endIntronOffset": 1529,
          "referenceAllele": "C",
          "start": 74,
          "startIntronDirection": "+",
          "startIntronOffset": 1528
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000536",
      "geneNCBI_id": 312,
      "geneSymbol": "ANXA13",
      "hgvs": [
        "ENST00000419625.6:c.15+1529C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000390809.1:n.15+1529C>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS754800",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000419625.6:c.15+1529C>G"
          },
          "RefSeq": {
            "hgvs": "NM_004306.4:c.15+1529C>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000390809.1:n.15+1529C>G"
          },
          "RefSeq": {
            "hgvs": "NP_004297.2:n.15+1529C>G"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 170,
          "referenceAllele": "C",
          "start": 169
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000536",
      "geneNCBI_id": 312,
      "geneSymbol": "ANXA13",
      "hgvs": [
        "ENST00000262219.10:c.102C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000262219.6:p.His34Gln",
        "hgvsWellDefined": "ENSP00000262219.6:p.His34Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS250961"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 88,
          "endIntronDirection": "+",
          "endIntronOffset": 1529,
          "referenceAllele": "C",
          "start": 88,
          "startIntronDirection": "+",
          "startIntronOffset": 1528
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000536",
      "geneNCBI_id": 312,
      "geneSymbol": "ANXA13",
      "hgvs": [
        "ENST00000419625.5:c.15+1529C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000390809.1:n.15+1529C>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS285972"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2580122332",
      "coordinates": [
        {
          "allele": "G",
          "end": 175,
          "referenceAllele": "C",
          "start": 174
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000536",
      "geneNCBI_id": 312,
      "geneSymbol": "ANXA13",
      "hgvs": [
        "NM_001003954.1:c.102C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001003954.1:p.His34Gln",
        "hgvsWellDefined": "NP_001003954.1:p.His34Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS007394"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 88,
          "endIntronDirection": "+",
          "endIntronOffset": 1529,
          "referenceAllele": "C",
          "start": 88,
          "startIntronDirection": "+",
          "startIntronOffset": 1528
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000536",
      "geneNCBI_id": 312,
      "geneSymbol": "ANXA13",
      "hgvs": [
        "NM_004306.2:c.15+1529C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_004297.2:n.15+1529C>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS029475"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 152,
          "endIntronDirection": "+",
          "endIntronOffset": 15830,
          "referenceAllele": "G",
          "start": 152,
          "startIntronDirection": "+",
          "startIntronOffset": 15829
        }
      ],
      "hgvs": [
        "XR_928607.1:n.152+15830G>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS125011"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2580122332",
      "coordinates": [
        {
          "allele": "G",
          "end": 194,
          "referenceAllele": "C",
          "start": 193
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000536",
      "geneNCBI_id": 312,
      "geneSymbol": "ANXA13",
      "hgvs": [
        "NM_001003954.2:c.102C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001003954.1:p.His34Gln",
        "hgvsWellDefined": "NP_001003954.1:p.His34Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS510922"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 107,
          "endIntronDirection": "+",
          "endIntronOffset": 1529,
          "referenceAllele": "C",
          "start": 107,
          "startIntronDirection": "+",
          "startIntronOffset": 1528
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000536",
      "geneNCBI_id": 312,
      "geneSymbol": "ANXA13",
      "hgvs": [
        "NM_004306.3:c.15+1529C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_004297.2:n.15+1529C>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS525194"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 323,
          "endIntronDirection": "+",
          "endIntronOffset": 15830,
          "referenceAllele": "G",
          "start": 323,
          "startIntronDirection": "+",
          "startIntronOffset": 15829
        }
      ],
      "hgvs": [
        "XR_928607.3:n.323+15830G>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS608946"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 74,
          "endIntronDirection": "+",
          "endIntronOffset": 1529,
          "referenceAllele": "C",
          "start": 74,
          "startIntronDirection": "+",
          "startIntronOffset": 1528
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000536",
      "geneNCBI_id": 312,
      "geneSymbol": "ANXA13",
      "hgvs": [
        "NM_004306.4:c.15+1529C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_004297.2:n.15+1529C>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS666420",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000419625.6:c.15+1529C>G"
          },
          "RefSeq": {
            "hgvs": "NM_004306.4:c.15+1529C>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000390809.1:n.15+1529C>G"
          },
          "RefSeq": {
            "hgvs": "NP_004297.2:n.15+1529C>G"
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA2580122332",
      "coordinates": [
        {
          "allele": "G",
          "end": 161,
          "referenceAllele": "C",
          "start": 160
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000536",
      "geneNCBI_id": 312,
      "geneSymbol": "ANXA13",
      "hgvs": [
        "NM_001003954.3:c.102C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001003954.1:p.His34Gln",
        "hgvsWellDefined": "NP_001003954.1:p.His34Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS675133"
    }
  ],
  "type": "nucleotide"
}