{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA104731459",
  "communityStandardTitle": [
    "NM_001154.4(ANXA5):c.-1C>A"
  ],
  "externalRecords": {
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr4:g.121696590G>T?assembly=hg38",
        "id": "chr4:g.121696590G>T"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/1131239",
        "rs": 1131239
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/4-121696590-G-T?dataset=gnomad_r4",
        "id": "4-121696590-G-T",
        "variant": "4:121696590 G / T"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "4",
      "coordinates": [
        {
          "allele": "T",
          "end": 121696590,
          "referenceAllele": "G",
          "start": 121696589
        }
      ],
      "hgvs": [
        "NC_000004.12:g.121696590G>T",
        "CM000666.2:g.121696590G>T"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000052"
    },
    {
      "chromosome": "4",
      "coordinates": [
        {
          "allele": "T",
          "end": 122617745,
          "referenceAllele": "G",
          "start": 122617744
        }
      ],
      "hgvs": [
        "NC_000004.11:g.122617745G>T",
        "CM000666.1:g.122617745G>T"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000028"
    },
    {
      "chromosome": "4",
      "coordinates": [
        {
          "allele": "T",
          "end": 122837195,
          "referenceAllele": "G",
          "start": 122837194
        }
      ],
      "hgvs": [
        "NC_000004.10:g.122837195G>T"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000004"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 5403,
          "referenceAllele": "C",
          "start": 5402
        }
      ],
      "hgvs": [
        "NG_032042.1:g.5403C>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS005102"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 153,
          "referenceAllele": "C",
          "start": 152
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000543",
      "geneNCBI_id": 308,
      "geneSymbol": "ANXA5",
      "hgvs": [
        "ENST00000296511.10:c.-1C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000296511.5:n.-1C>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS744430",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000296511.10:c.-1C>A"
          },
          "RefSeq": {
            "hgvs": "NM_001154.4:c.-1C>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000296511.5:n.-1C>A"
          },
          "RefSeq": {
            "hgvs": "NP_001145.1:n.-1C>A"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 286,
          "referenceAllele": "C",
          "start": 285
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000543",
      "geneNCBI_id": 308,
      "geneSymbol": "ANXA5",
      "hgvs": [
        "ENST00000296511.9:c.-1C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000296511.5:n.-1C>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS254322"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 139,
          "referenceAllele": "C",
          "start": 138
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000543",
      "geneNCBI_id": 308,
      "geneSymbol": "ANXA5",
      "hgvs": [
        "ENST00000501272.6:c.-1C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000424106.1:n.-1C>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS334840"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 139,
          "referenceAllele": "C",
          "start": 138
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000543",
      "geneNCBI_id": 308,
      "geneSymbol": "ANXA5",
      "hgvs": [
        "ENST00000506395.5:c.-1C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000421421.1:n.-1C>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS337940"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 130,
          "endIntronDirection": "+",
          "endIntronOffset": 273,
          "referenceAllele": "C",
          "start": 130,
          "startIntronDirection": "+",
          "startIntronOffset": 272
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000543",
      "geneNCBI_id": 308,
      "geneSymbol": "ANXA5",
      "hgvs": [
        "ENST00000509016.5:n.130+273C>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS339882"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 386,
          "referenceAllele": "C",
          "start": 385
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000543",
      "geneNCBI_id": 308,
      "geneSymbol": "ANXA5",
      "hgvs": [
        "ENST00000511552.5:n.386C>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS341794"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 165,
          "referenceAllele": "C",
          "start": 164
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000543",
      "geneNCBI_id": 308,
      "geneSymbol": "ANXA5",
      "hgvs": [
        "ENST00000513428.5:n.165C>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS343170"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 168,
          "referenceAllele": "C",
          "start": 167
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000543",
      "geneNCBI_id": 308,
      "geneSymbol": "ANXA5",
      "hgvs": [
        "ENST00000513523.1:n.168C>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS343247"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 148,
          "referenceAllele": "C",
          "start": 147
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000543",
      "geneNCBI_id": 308,
      "geneSymbol": "ANXA5",
      "hgvs": [
        "ENST00000513728.1:c.-1C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000427135.1:n.-1C>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS343397"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 135,
          "referenceAllele": "C",
          "start": 134
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000543",
      "geneNCBI_id": 308,
      "geneSymbol": "ANXA5",
      "hgvs": [
        "ENST00000515017.5:c.-1C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000424199.1:n.-1C>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS344361"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 165,
          "referenceAllele": "C",
          "start": 164
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000543",
      "geneNCBI_id": 308,
      "geneSymbol": "ANXA5",
      "hgvs": [
        "NM_001154.3:c.-1C>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001145.1:n.-1C>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS013999"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 167,
          "referenceAllele": "C",
          "start": 166
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000543",
      "geneNCBI_id": 308,
      "geneSymbol": "ANXA5",
      "hgvs": [
        "XM_017008141.2:c.-1C>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_016863630.1:n.-1C>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS562705"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 153,
          "referenceAllele": "C",
          "start": 152
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000543",
      "geneNCBI_id": 308,
      "geneSymbol": "ANXA5",
      "hgvs": [
        "NM_001154.4:c.-1C>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001145.1:n.-1C>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS663805",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000296511.10:c.-1C>A"
          },
          "RefSeq": {
            "hgvs": "NM_001154.4:c.-1C>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000296511.5:n.-1C>A"
          },
          "RefSeq": {
            "hgvs": "NP_001145.1:n.-1C>A"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}