{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA2210140837",
  "communityStandardTitle": [
    "NM_001171.6(ABCC6):c.4025T= (p.Ile1342=)"
  ],
  "externalRecords": {
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/63750608",
        "rs": 63750608
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "16",
      "coordinates": [
        {
          "allele": "A",
          "end": 16154889,
          "referenceAllele": "A",
          "start": 16154888
        }
      ],
      "hgvs": [
        "NC_000016.10:g.16154889A=",
        "CM000678.2:g.16154889A="
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000064"
    },
    {
      "chromosome": "16",
      "coordinates": [
        {
          "allele": "A",
          "end": 16248746,
          "referenceAllele": "A",
          "start": 16248745
        }
      ],
      "hgvs": [
        "NC_000016.9:g.16248746A=",
        "CM000678.1:g.16248746A="
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000040"
    },
    {
      "chromosome": "16",
      "coordinates": [
        {
          "allele": "A",
          "end": 16156247,
          "referenceAllele": "A",
          "start": 16156246
        }
      ],
      "hgvs": [
        "NC_000016.8:g.16156247A="
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000016"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 73583,
          "referenceAllele": "T",
          "start": 73582
        }
      ],
      "hgvs": [
        "NG_007558.2:g.73583T="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS000648"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 73729,
          "referenceAllele": "T",
          "start": 73728
        }
      ],
      "hgvs": [
        "NG_007558.3:g.73729T="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS733313"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 888,
          "referenceAllele": "T",
          "start": 887
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000057",
      "geneNCBI_id": 368,
      "geneSymbol": "ABCC6",
      "hgvs": [
        "ENST00000576204.6:n.888T="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS826186"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 4148,
          "referenceAllele": "T",
          "start": 4147
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000057",
      "geneNCBI_id": 368,
      "geneSymbol": "ABCC6",
      "hgvs": [
        "ENST00000622290.5:c.*197T="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000483331.2:n.*197T="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS826576"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 4085,
          "referenceAllele": "T",
          "start": 4084
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000057",
      "geneNCBI_id": 368,
      "geneSymbol": "ABCC6",
      "hgvs": [
        "ENST00000205557.12:c.4025T="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000205557.7:p.Ile1342="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS740175",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000205557.12:c.4025T="
          },
          "RefSeq": {
            "hgvs": "NM_001171.6:c.4025T="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000205557.7:p.Ile1342="
          },
          "RefSeq": {
            "hgvs": "NP_001162.5:p.Ile1342="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 839,
          "referenceAllele": "T",
          "start": 838
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000057",
      "geneNCBI_id": 368,
      "geneSymbol": "ABCC6",
      "hgvs": [
        "ENST00000640696.1:c.839T="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000492197.1:p.Ile280="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS765624"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 4055,
          "referenceAllele": "T",
          "start": 4054
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000057",
      "geneNCBI_id": 368,
      "geneSymbol": "ABCC6",
      "hgvs": [
        "ENST00000205557.11:c.4025T="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000205557.7:p.Ile1342="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247821"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3650,
          "referenceAllele": "T",
          "start": 3649
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000057",
      "geneNCBI_id": 368,
      "geneSymbol": "ABCC6",
      "hgvs": [
        "ENST00000456970.6:c.3650T="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000405002.2:n.3650T="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS303727"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 888,
          "referenceAllele": "T",
          "start": 887
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000057",
      "geneNCBI_id": 368,
      "geneSymbol": "ABCC6",
      "hgvs": [
        "ENST00000576204.5:n.888T="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS384394"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3887,
          "referenceAllele": "T",
          "start": 3886
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000057",
      "geneNCBI_id": 368,
      "geneSymbol": "ABCC6",
      "hgvs": [
        "ENST00000622290.4:c.*1234T="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000483331.1:n.*1234T="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS405655"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 4062,
          "referenceAllele": "T",
          "start": 4061
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000057",
      "geneNCBI_id": 368,
      "geneSymbol": "ABCC6",
      "hgvs": [
        "NM_001171.5:c.4025T="
      ],
      "proteinEffect": {
        "hgvs": "NP_001162.4:p.Ile1342="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS015270"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 4222,
          "referenceAllele": "T",
          "start": 4221
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000057",
      "geneNCBI_id": 368,
      "geneSymbol": "ABCC6",
      "hgvs": [
        "XM_011522479.1:c.3992T="
      ],
      "proteinEffect": {
        "hgvs": "XP_011520781.1:p.Ile1331="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS089630"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 4010,
          "referenceAllele": "T",
          "start": 4009
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000057",
      "geneNCBI_id": 368,
      "geneSymbol": "ABCC6",
      "hgvs": [
        "XM_011522480.1:c.3683T="
      ],
      "proteinEffect": {
        "hgvs": "XP_011520782.1:p.Ile1228="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS089631"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 4195,
          "referenceAllele": "T",
          "start": 4194
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000057",
      "geneNCBI_id": 368,
      "geneSymbol": "ABCC6",
      "hgvs": [
        "XM_011522481.1:c.3683T="
      ],
      "proteinEffect": {
        "hgvs": "XP_011520783.1:p.Ile1228="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS089632"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 538,
          "endIntronDirection": "-",
          "endIntronOffset": 4891,
          "referenceAllele": "A",
          "start": 538,
          "startIntronDirection": "-",
          "startIntronOffset": 4892
        }
      ],
      "hgvs": [
        "XR_933134.1:n.539-4892A="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS128911"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 4093,
          "referenceAllele": "T",
          "start": 4092
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000057",
      "geneNCBI_id": 368,
      "geneSymbol": "ABCC6",
      "hgvs": [
        "NM_001351800.1:c.3683T="
      ],
      "proteinEffect": {
        "hgvs": "NP_001338729.1:p.Ile1228="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS520461"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3687,
          "referenceAllele": "T",
          "start": 3686
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000057",
      "geneNCBI_id": 368,
      "geneSymbol": "ABCC6",
      "hgvs": [
        "NR_147784.1:n.3687T="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS530836"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 4173,
          "referenceAllele": "T",
          "start": 4172
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000057",
      "geneNCBI_id": 368,
      "geneSymbol": "ABCC6",
      "hgvs": [
        "XM_011522479.2:c.3992T="
      ],
      "proteinEffect": {
        "hgvs": "XP_011520781.1:p.Ile1331="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS546607"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 4208,
          "referenceAllele": "T",
          "start": 4207
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000057",
      "geneNCBI_id": 368,
      "geneSymbol": "ABCC6",
      "hgvs": [
        "XM_011522481.3:c.3683T="
      ],
      "proteinEffect": {
        "hgvs": "XP_011520783.1:p.Ile1228="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS546608"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 4038,
          "referenceAllele": "T",
          "start": 4037
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000057",
      "geneNCBI_id": 368,
      "geneSymbol": "ABCC6",
      "hgvs": [
        "XM_017023212.1:c.3857T="
      ],
      "proteinEffect": {
        "hgvs": "XP_016878701.1:p.Ile1286="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS574012"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 4244,
          "referenceAllele": "T",
          "start": 4243
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000057",
      "geneNCBI_id": 368,
      "geneSymbol": "ABCC6",
      "hgvs": [
        "XM_024450261.1:c.4061T="
      ],
      "proteinEffect": {
        "hgvs": "XP_024306029.1:p.Ile1354="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS583801"
    },
    {
      "@id": "http://reg.genome.network/allele/PA3082811583",
      "coordinates": [
        {
          "allele": "T",
          "end": 4085,
          "referenceAllele": "T",
          "start": 4084
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000057",
      "geneNCBI_id": 368,
      "geneSymbol": "ABCC6",
      "hgvs": [
        "NM_001171.6:c.4025T="
      ],
      "proteinEffect": {
        "hgvs": "NP_001162.5:p.Ile1342="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS713353",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000205557.12:c.4025T="
          },
          "RefSeq": {
            "hgvs": "NM_001171.6:c.4025T="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000205557.7:p.Ile1342="
          },
          "RefSeq": {
            "hgvs": "NP_001162.5:p.Ile1342="
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}