{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA12428154",
  "communityStandardTitle": [
    "NM_021073.4(BMP5):c.491-25096G>A"
  ],
  "externalRecords": {
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr6:g.55709741C>T?assembly=hg19",
        "id": "chr6:g.55709741C>T"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr6:g.55844943C>T?assembly=hg38",
        "id": "chr6:g.55844943C>T"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/921126",
        "rs": 921126
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/6-55709741-C-T?dataset=gnomad_r2_1",
        "id": "6-55709741-C-T",
        "variant": "6:55709741 C / T"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/6-55844943-C-T?dataset=gnomad_r3",
        "id": "6-55844943-C-T",
        "variant": "6:55844943 C / T"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/6-55844943-C-T?dataset=gnomad_r4",
        "id": "6-55844943-C-T",
        "variant": "6:55844943 C / T"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "6",
      "coordinates": [
        {
          "allele": "T",
          "end": 55844943,
          "referenceAllele": "C",
          "start": 55844942
        }
      ],
      "hgvs": [
        "NC_000006.12:g.55844943C>T",
        "CM000668.2:g.55844943C>T"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000054"
    },
    {
      "chromosome": "6",
      "coordinates": [
        {
          "allele": "T",
          "end": 55709741,
          "referenceAllele": "C",
          "start": 55709740
        }
      ],
      "hgvs": [
        "NC_000006.11:g.55709741C>T",
        "CM000668.1:g.55709741C>T"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000030"
    },
    {
      "chromosome": "6",
      "coordinates": [
        {
          "allele": "T",
          "end": 55817700,
          "referenceAllele": "C",
          "start": 55817699
        }
      ],
      "hgvs": [
        "NC_000006.10:g.55817700C>T"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000006"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1215,
          "endIntronDirection": "-",
          "endIntronOffset": 25095,
          "referenceAllele": "G",
          "start": 1215,
          "startIntronDirection": "-",
          "startIntronOffset": 25096
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001072",
      "geneNCBI_id": 653,
      "geneSymbol": "BMP5",
      "hgvs": [
        "ENST00000370830.4:c.491-25096G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000359866.3:n.491-25096G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS750686",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000370830.4:c.491-25096G>A"
          },
          "RefSeq": {
            "hgvs": "NM_021073.4:c.491-25096G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000359866.3:n.491-25096G>A"
          },
          "RefSeq": {
            "hgvs": "NP_066551.1:n.491-25096G>A"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1189,
          "endIntronDirection": "-",
          "endIntronOffset": 25095,
          "referenceAllele": "G",
          "start": 1189,
          "startIntronDirection": "-",
          "startIntronOffset": 25096
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001072",
      "geneNCBI_id": 653,
      "geneSymbol": "BMP5",
      "hgvs": [
        "ENST00000370830.3:c.491-25096G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000359866.3:n.491-25096G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS268269"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1202,
          "endIntronDirection": "-",
          "endIntronOffset": 25095,
          "referenceAllele": "G",
          "start": 1202,
          "startIntronDirection": "-",
          "startIntronOffset": 25096
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001072",
      "geneNCBI_id": 653,
      "geneSymbol": "BMP5",
      "hgvs": [
        "NM_021073.2:c.491-25096G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_066551.1:n.491-25096G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS036808"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1218,
          "endIntronDirection": "-",
          "endIntronOffset": 25095,
          "referenceAllele": "G",
          "start": 1218,
          "startIntronDirection": "-",
          "startIntronOffset": 25096
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001072",
      "geneNCBI_id": 653,
      "geneSymbol": "BMP5",
      "hgvs": [
        "XM_005249304.2:c.491-25096G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_005249361.1:n.491-25096G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS058786"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1218,
          "endIntronDirection": "-",
          "endIntronOffset": 25095,
          "referenceAllele": "G",
          "start": 1218,
          "startIntronDirection": "-",
          "startIntronOffset": 25096
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001072",
      "geneNCBI_id": 653,
      "geneSymbol": "BMP5",
      "hgvs": [
        "XM_011514816.1:c.491-25096G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011513118.1:n.491-25096G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS082038"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1218,
          "endIntronDirection": "-",
          "endIntronOffset": 25095,
          "referenceAllele": "G",
          "start": 1218,
          "startIntronDirection": "-",
          "startIntronOffset": 25096
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001072",
      "geneNCBI_id": 653,
      "geneSymbol": "BMP5",
      "hgvs": [
        "XM_011514817.1:c.491-25096G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011513119.1:n.491-25096G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS082039"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1215,
          "endIntronDirection": "-",
          "endIntronOffset": 25095,
          "referenceAllele": "G",
          "start": 1215,
          "startIntronDirection": "-",
          "startIntronOffset": 25096
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001072",
      "geneNCBI_id": 653,
      "geneSymbol": "BMP5",
      "hgvs": [
        "NM_001329754.1:c.491-25096G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001316683.1:n.491-25096G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS516361"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1215,
          "endIntronDirection": "-",
          "endIntronOffset": 25095,
          "referenceAllele": "G",
          "start": 1215,
          "startIntronDirection": "-",
          "startIntronOffset": 25096
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001072",
      "geneNCBI_id": 653,
      "geneSymbol": "BMP5",
      "hgvs": [
        "NM_001329756.1:c.491-25096G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001316685.1:n.491-25096G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS516363"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1215,
          "endIntronDirection": "-",
          "endIntronOffset": 25095,
          "referenceAllele": "G",
          "start": 1215,
          "startIntronDirection": "-",
          "startIntronOffset": 25096
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001072",
      "geneNCBI_id": 653,
      "geneSymbol": "BMP5",
      "hgvs": [
        "NM_021073.3:c.491-25096G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_066551.1:n.491-25096G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS526035"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 504,
          "endIntronDirection": "-",
          "endIntronOffset": 25095,
          "referenceAllele": "G",
          "start": 504,
          "startIntronDirection": "-",
          "startIntronOffset": 25096
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001072",
      "geneNCBI_id": 653,
      "geneSymbol": "BMP5",
      "hgvs": [
        "XM_011514817.3:c.491-25096G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011513119.1:n.491-25096G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS543479"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 504,
          "endIntronDirection": "-",
          "endIntronOffset": 25095,
          "referenceAllele": "G",
          "start": 504,
          "startIntronDirection": "-",
          "startIntronOffset": 25096
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001072",
      "geneNCBI_id": 653,
      "geneSymbol": "BMP5",
      "hgvs": [
        "XM_024446524.1:c.491-25096G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_024302292.1:n.491-25096G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS580185"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1215,
          "endIntronDirection": "-",
          "endIntronOffset": 25095,
          "referenceAllele": "G",
          "start": 1215,
          "startIntronDirection": "-",
          "startIntronOffset": 25096
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001072",
      "geneNCBI_id": 653,
      "geneSymbol": "BMP5",
      "hgvs": [
        "NM_021073.4:c.491-25096G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_066551.1:n.491-25096G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS670198",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000370830.4:c.491-25096G>A"
          },
          "RefSeq": {
            "hgvs": "NM_021073.4:c.491-25096G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000359866.3:n.491-25096G>A"
          },
          "RefSeq": {
            "hgvs": "NP_066551.1:n.491-25096G>A"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1215,
          "endIntronDirection": "-",
          "endIntronOffset": 25095,
          "referenceAllele": "G",
          "start": 1215,
          "startIntronDirection": "-",
          "startIntronOffset": 25096
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001072",
      "geneNCBI_id": 653,
      "geneSymbol": "BMP5",
      "hgvs": [
        "NM_001329754.2:c.491-25096G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001316683.1:n.491-25096G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS686665"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1215,
          "endIntronDirection": "-",
          "endIntronOffset": 25095,
          "referenceAllele": "G",
          "start": 1215,
          "startIntronDirection": "-",
          "startIntronOffset": 25096
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001072",
      "geneNCBI_id": 653,
      "geneSymbol": "BMP5",
      "hgvs": [
        "NM_001329756.2:c.491-25096G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001316685.1:n.491-25096G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS686667"
    }
  ],
  "type": "nucleotide"
}