{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA381417851",
  "communityStandardTitle": [
    "NM_006876.3(B4GAT1):c.697A>C (p.Ser233Arg)"
  ],
  "externalRecords": {
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr11:g.66114320T>G?assembly=hg19",
        "id": "chr11:g.66114320T>G"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr11:g.66346849T>G?assembly=hg38",
        "id": "chr11:g.66346849T>G"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/2495385749",
        "rs": 2495385749
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/11-66346849-T-G?dataset=gnomad_r4",
        "id": "11-66346849-T-G",
        "variant": "11:66346849 T / G"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "11",
      "coordinates": [
        {
          "allele": "G",
          "end": 66346849,
          "referenceAllele": "T",
          "start": 66346848
        }
      ],
      "hgvs": [
        "NC_000011.10:g.66346849T>G",
        "CM000673.2:g.66346849T>G"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000059"
    },
    {
      "chromosome": "11",
      "coordinates": [
        {
          "allele": "G",
          "end": 66114320,
          "referenceAllele": "T",
          "start": 66114319
        }
      ],
      "hgvs": [
        "NC_000011.9:g.66114320T>G",
        "CM000673.1:g.66114320T>G"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000035"
    },
    {
      "chromosome": "11",
      "coordinates": [
        {
          "allele": "G",
          "end": 65870896,
          "referenceAllele": "T",
          "start": 65870895
        }
      ],
      "hgvs": [
        "NC_000011.8:g.65870896T>G"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000011"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 5842,
          "referenceAllele": "A",
          "start": 5841
        }
      ],
      "hgvs": [
        "NG_033202.1:g.5842A>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS005472"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 781,
          "referenceAllele": "A",
          "start": 780
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015685",
      "geneNCBI_id": 11041,
      "geneSymbol": "B4GAT1",
      "hgvs": [
        "ENST00000311181.5:c.697A>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000309096.4:p.Ser233Arg",
        "hgvsWellDefined": "ENSP00000309096.4:p.Ser233Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS745697",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000311181.5:c.697A>C"
          },
          "RefSeq": {
            "hgvs": "NM_006876.3:c.697A>C"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000309096.4:p.Ser233Arg"
          },
          "RefSeq": {
            "hgvs": "NP_006867.1:p.Ser233Arg"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 844,
          "referenceAllele": "A",
          "start": 843
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015685",
      "geneNCBI_id": 11041,
      "geneSymbol": "B4GAT1",
      "hgvs": [
        "ENST00000311181.4:c.697A>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000309096.4:p.Ser233Arg",
        "hgvsWellDefined": "ENSP00000309096.4:p.Ser233Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS256488"
    },
    {
      "@id": "http://reg.genome.network/allele/PA1139711315",
      "coordinates": [
        {
          "allele": "C",
          "end": 842,
          "referenceAllele": "A",
          "start": 841
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015685",
      "geneNCBI_id": 11041,
      "geneSymbol": "B4GAT1",
      "hgvs": [
        "NM_006876.2:c.697A>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_006867.1:p.Ser233Arg",
        "hgvsWellDefined": "NP_006867.1:p.Ser233Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS031856"
    },
    {
      "@id": "http://reg.genome.network/allele/PA1139711315",
      "coordinates": [
        {
          "allele": "C",
          "end": 781,
          "referenceAllele": "A",
          "start": 780
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015685",
      "geneNCBI_id": 11041,
      "geneSymbol": "B4GAT1",
      "hgvs": [
        "NM_006876.3:c.697A>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_006867.1:p.Ser233Arg",
        "hgvsWellDefined": "NP_006867.1:p.Ser233Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS667672",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000311181.5:c.697A>C"
          },
          "RefSeq": {
            "hgvs": "NM_006876.3:c.697A>C"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000309096.4:p.Ser233Arg"
          },
          "RefSeq": {
            "hgvs": "NP_006867.1:p.Ser233Arg"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}