{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA2581798847",
  "communityStandardTitle": [
    "NM_020981.4(B3GALT1):c.-351-33212A>C"
  ],
  "externalRecords": {
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/1004368",
        "rs": 1004368
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "2",
      "coordinates": [
        {
          "allele": "C",
          "end": 167785460,
          "referenceAllele": "A",
          "start": 167785459
        }
      ],
      "hgvs": [
        "NC_000002.12:g.167785460A>C",
        "CM000664.2:g.167785460A>C"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000050"
    },
    {
      "chromosome": "2",
      "coordinates": [
        {
          "allele": "C",
          "end": 168641970,
          "referenceAllele": "A",
          "start": 168641969
        }
      ],
      "hgvs": [
        "NC_000002.11:g.168641970A>C",
        "CM000664.1:g.168641970A>C"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000026"
    },
    {
      "chromosome": "2",
      "coordinates": [
        {
          "allele": "C",
          "end": 168350216,
          "referenceAllele": "A",
          "start": 168350215
        }
      ],
      "hgvs": [
        "NC_000002.10:g.168350216A>C"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000002"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 497400,
          "referenceAllele": "A",
          "start": 497399
        }
      ],
      "hgvs": [
        "NG_050644.1:g.497400A>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS616762"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 493,
          "endIntronDirection": "-",
          "endIntronOffset": 33211,
          "referenceAllele": "A",
          "start": 493,
          "startIntronDirection": "-",
          "startIntronOffset": 33212
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000916",
      "geneNCBI_id": 8708,
      "geneSymbol": "B3GALT1",
      "hgvs": [
        "ENST00000392690.4:c.-351-33212A>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000376456.2:n.-351-33212A>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS824453",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000392690.4:c.-351-33212A>C"
          },
          "RefSeq": {
            "hgvs": "NM_020981.4:c.-351-33212A>C"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000376456.2:n.-351-33212A>C"
          },
          "RefSeq": {
            "hgvs": "NP_066191.1:n.-351-33212A>C"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 433,
          "endIntronDirection": "-",
          "endIntronOffset": 33211,
          "referenceAllele": "A",
          "start": 433,
          "startIntronDirection": "-",
          "startIntronOffset": 33212
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000916",
      "geneNCBI_id": 8708,
      "geneSymbol": "B3GALT1",
      "hgvs": [
        "XM_005246931.2:c.-351-33212A>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_005246988.1:n.-351-33212A>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS057843"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 196,
          "endIntronDirection": "-",
          "endIntronOffset": 33211,
          "referenceAllele": "A",
          "start": 196,
          "startIntronDirection": "-",
          "startIntronOffset": 33212
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000916",
      "geneNCBI_id": 8708,
      "geneSymbol": "B3GALT1",
      "hgvs": [
        "XM_006712819.2:c.-351-33212A>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_006712882.1:n.-351-33212A>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS069851"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 178,
          "endIntronDirection": "-",
          "endIntronOffset": 33211,
          "referenceAllele": "A",
          "start": 178,
          "startIntronDirection": "-",
          "startIntronOffset": 33212
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000916",
      "geneNCBI_id": 8708,
      "geneSymbol": "B3GALT1",
      "hgvs": [
        "XM_011512084.1:c.-351-33212A>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011510386.1:n.-351-33212A>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS079342"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 433,
          "endIntronDirection": "-",
          "endIntronOffset": 33211,
          "referenceAllele": "A",
          "start": 433,
          "startIntronDirection": "-",
          "startIntronOffset": 33212
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000916",
      "geneNCBI_id": 8708,
      "geneSymbol": "B3GALT1",
      "hgvs": [
        "XM_011512085.1:c.-367-33212A>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011510387.1:n.-367-33212A>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS079343"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 434,
          "endIntronDirection": "-",
          "endIntronOffset": 33211,
          "referenceAllele": "A",
          "start": 434,
          "startIntronDirection": "-",
          "startIntronOffset": 33212
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000916",
      "geneNCBI_id": 8708,
      "geneSymbol": "B3GALT1",
      "hgvs": [
        "XM_005246931.3:c.-351-33212A>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_005246988.1:n.-351-33212A>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS532728"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 4708,
          "endIntronDirection": "-",
          "endIntronOffset": 33211,
          "referenceAllele": "A",
          "start": 4708,
          "startIntronDirection": "-",
          "startIntronOffset": 33212
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000916",
      "geneNCBI_id": 8708,
      "geneSymbol": "B3GALT1",
      "hgvs": [
        "XM_006712819.3:c.-351-33212A>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_006712882.1:n.-351-33212A>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS538361"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 434,
          "endIntronDirection": "-",
          "endIntronOffset": 33211,
          "referenceAllele": "A",
          "start": 434,
          "startIntronDirection": "-",
          "startIntronOffset": 33212
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000916",
      "geneNCBI_id": 8708,
      "geneSymbol": "B3GALT1",
      "hgvs": [
        "XM_011512085.2:c.-367-33212A>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011510387.1:n.-367-33212A>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS542415"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 493,
          "endIntronDirection": "-",
          "endIntronOffset": 33211,
          "referenceAllele": "A",
          "start": 493,
          "startIntronDirection": "-",
          "startIntronOffset": 33212
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000916",
      "geneNCBI_id": 8708,
      "geneSymbol": "B3GALT1",
      "hgvs": [
        "NM_020981.4:c.-351-33212A>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_066191.1:n.-351-33212A>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS728493",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000392690.4:c.-351-33212A>C"
          },
          "RefSeq": {
            "hgvs": "NM_020981.4:c.-351-33212A>C"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000376456.2:n.-351-33212A>C"
          },
          "RefSeq": {
            "hgvs": "NP_066191.1:n.-351-33212A>C"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}