{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA1977848146",
  "communityStandardTitle": [
    "NM_012200.4(B3GAT3):c.667G= (p.Gly223=)"
  ],
  "externalRecords": {
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/372487178",
        "rs": 372487178
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "11",
      "coordinates": [
        {
          "allele": "C",
          "end": 62616748,
          "referenceAllele": "C",
          "start": 62616747
        }
      ],
      "hgvs": [
        "NC_000011.10:g.62616748C=",
        "CM000673.2:g.62616748C="
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000059"
    },
    {
      "chromosome": "11",
      "coordinates": [
        {
          "allele": "C",
          "end": 62384220,
          "referenceAllele": "C",
          "start": 62384219
        }
      ],
      "hgvs": [
        "NC_000011.9:g.62384220C=",
        "CM000673.1:g.62384220C="
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000035"
    },
    {
      "chromosome": "11",
      "coordinates": [
        {
          "allele": "C",
          "end": 62140796,
          "referenceAllele": "C",
          "start": 62140795
        }
      ],
      "hgvs": [
        "NC_000011.8:g.62140796C="
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000011"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 9008,
          "referenceAllele": "C",
          "start": 9007
        }
      ],
      "hgvs": [
        "NG_009845.1:g.9008C="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001674"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 10428,
          "referenceAllele": "G",
          "start": 10427
        }
      ],
      "hgvs": [
        "NG_031863.1:g.10428G="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS004997"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 706,
          "referenceAllele": "G",
          "start": 705
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000923",
      "geneNCBI_id": 26229,
      "geneSymbol": "B3GAT3",
      "hgvs": [
        "ENST00000265471.10:c.667G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000265471.5:p.Gly223="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS742842",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000265471.10:c.667G="
          },
          "RefSeq": {
            "hgvs": "NM_012200.4:c.667G="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000265471.5:p.Gly223="
          },
          "RefSeq": {
            "hgvs": "NP_036332.2:p.Gly223="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 895,
          "referenceAllele": "G",
          "start": 894
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000923",
      "geneNCBI_id": 26229,
      "geneSymbol": "B3GAT3",
      "hgvs": [
        "ENST00000265471.9:c.667G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000265471.5:p.Gly223="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS251759"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 874,
          "referenceAllele": "G",
          "start": 873
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000923",
      "geneNCBI_id": 26229,
      "geneSymbol": "B3GAT3",
      "hgvs": [
        "ENST00000531383.5:c.667G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000431359.1:p.Gly223="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS356483"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 943,
          "referenceAllele": "G",
          "start": 942
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000923",
      "geneNCBI_id": 26229,
      "geneSymbol": "B3GAT3",
      "hgvs": [
        "ENST00000532585.5:c.*789G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000432604.1:n.*789G="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS357497"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 517,
          "referenceAllele": "G",
          "start": 516
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000923",
      "geneNCBI_id": 26229,
      "geneSymbol": "B3GAT3",
      "hgvs": [
        "ENST00000533303.1:n.517G="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS358099"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 704,
          "referenceAllele": "G",
          "start": 703
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000923",
      "geneNCBI_id": 26229,
      "geneSymbol": "B3GAT3",
      "hgvs": [
        "ENST00000534026.5:c.667G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000432474.1:p.Gly223="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS358705"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1134,
          "referenceAllele": "G",
          "start": 1133
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000923",
      "geneNCBI_id": 26229,
      "geneSymbol": "B3GAT3",
      "hgvs": [
        "NM_001288721.1:c.646G="
      ],
      "proteinEffect": {
        "hgvs": "NP_001275650.1:p.Gly216="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS023554"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 895,
          "referenceAllele": "G",
          "start": 894
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000923",
      "geneNCBI_id": 26229,
      "geneSymbol": "B3GAT3",
      "hgvs": [
        "NM_001288722.1:c.667G="
      ],
      "proteinEffect": {
        "hgvs": "NP_001275651.1:p.Gly223="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS023555"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 895,
          "referenceAllele": "G",
          "start": 894
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000923",
      "geneNCBI_id": 26229,
      "geneSymbol": "B3GAT3",
      "hgvs": [
        "NM_001288723.1:c.667G="
      ],
      "proteinEffect": {
        "hgvs": "NP_001275652.1:p.Gly223="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS023556"
    },
    {
      "@id": "http://reg.genome.network/allele/PA3077825889",
      "coordinates": [
        {
          "allele": "G",
          "end": 895,
          "referenceAllele": "G",
          "start": 894
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000923",
      "geneNCBI_id": 26229,
      "geneSymbol": "B3GAT3",
      "hgvs": [
        "NM_012200.3:c.667G="
      ],
      "proteinEffect": {
        "hgvs": "NP_036332.2:p.Gly223="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS032389"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 885,
          "referenceAllele": "G",
          "start": 884
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000923",
      "geneNCBI_id": 26229,
      "geneSymbol": "B3GAT3",
      "hgvs": [
        "NR_109991.1:n.885G="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS054279"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1351,
          "referenceAllele": "G",
          "start": 1350
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000923",
      "geneNCBI_id": 26229,
      "geneSymbol": "B3GAT3",
      "hgvs": [
        "XM_011544936.1:c.646G="
      ],
      "proteinEffect": {
        "hgvs": "XP_011543238.1:p.Gly216="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS111845"
    },
    {
      "@id": "http://reg.genome.network/allele/PA3077825889",
      "coordinates": [
        {
          "allele": "G",
          "end": 706,
          "referenceAllele": "G",
          "start": 705
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000923",
      "geneNCBI_id": 26229,
      "geneSymbol": "B3GAT3",
      "hgvs": [
        "NM_012200.4:c.667G="
      ],
      "proteinEffect": {
        "hgvs": "NP_036332.2:p.Gly223="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS667941",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000265471.10:c.667G="
          },
          "RefSeq": {
            "hgvs": "NM_012200.4:c.667G="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000265471.5:p.Gly223="
          },
          "RefSeq": {
            "hgvs": "NP_036332.2:p.Gly223="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 945,
          "referenceAllele": "G",
          "start": 944
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000923",
      "geneNCBI_id": 26229,
      "geneSymbol": "B3GAT3",
      "hgvs": [
        "NM_001288721.2:c.646G="
      ],
      "proteinEffect": {
        "hgvs": "NP_001275650.1:p.Gly216="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS682492"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 706,
          "referenceAllele": "G",
          "start": 705
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000923",
      "geneNCBI_id": 26229,
      "geneSymbol": "B3GAT3",
      "hgvs": [
        "NM_001288722.2:c.667G="
      ],
      "proteinEffect": {
        "hgvs": "NP_001275651.1:p.Gly223="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS682493"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 706,
          "referenceAllele": "G",
          "start": 705
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000923",
      "geneNCBI_id": 26229,
      "geneSymbol": "B3GAT3",
      "hgvs": [
        "NM_001288723.2:c.667G="
      ],
      "proteinEffect": {
        "hgvs": "NP_001275652.1:p.Gly223="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS682494"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 696,
          "referenceAllele": "G",
          "start": 695
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000923",
      "geneNCBI_id": 26229,
      "geneSymbol": "B3GAT3",
      "hgvs": [
        "NR_109991.2:n.696G="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS703095"
    }
  ],
  "type": "nucleotide"
}