{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA144525",
  "communityStandardTitle": [
    "NM_080605.4(B3GALT6):c.899G>C (p.Cys300Ser)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=75082[alleleid]",
        "alleleId": 75082,
        "preferredName": "NM_080605.4(B3GALT6):c.899G>C (p.Cys300Ser)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/60487",
        "RCV": [
          "RCV000054393"
        ],
        "variationId": 60487
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr1:g.1168557G>C?assembly=hg19",
        "id": "chr1:g.1168557G>C"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr1:g.1233177G>C?assembly=hg38",
        "id": "chr1:g.1233177G>C"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/786200939",
        "rs": 786200939
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "1",
      "coordinates": [
        {
          "allele": "C",
          "end": 1233177,
          "referenceAllele": "G",
          "start": 1233176
        }
      ],
      "hgvs": [
        "NC_000001.11:g.1233177G>C",
        "CM000663.2:g.1233177G>C"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000049"
    },
    {
      "chromosome": "1",
      "coordinates": [
        {
          "allele": "C",
          "end": 1168557,
          "referenceAllele": "G",
          "start": 1168556
        }
      ],
      "hgvs": [
        "NC_000001.10:g.1168557G>C",
        "CM000663.1:g.1168557G>C"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000025"
    },
    {
      "chromosome": "1",
      "coordinates": [
        {
          "allele": "C",
          "end": 1158420,
          "referenceAllele": "G",
          "start": 1158419
        }
      ],
      "hgvs": [
        "NC_000001.9:g.1158420G>C"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000001"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3891,
          "referenceAllele": "C",
          "start": 3890
        }
      ],
      "hgvs": [
        "NG_030007.1:g.3891C>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS004834"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 5929,
          "referenceAllele": "G",
          "start": 5928
        }
      ],
      "hgvs": [
        "NG_033265.1:g.5929G>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS005500"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 941,
          "referenceAllele": "G",
          "start": 940
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017978",
      "geneNCBI_id": 126792,
      "geneSymbol": "B3GALT6",
      "hgvs": [
        "ENST00000379198.5:c.899G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000368496.2:p.Cys300Ser",
        "hgvsWellDefined": "ENSP00000368496.2:p.Cys300Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS752190",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000379198.5:c.899G>C"
          },
          "RefSeq": {
            "hgvs": "NM_080605.4:c.899G>C"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000368496.2:p.Cys300Ser"
          },
          "RefSeq": {
            "hgvs": "NP_542172.2:p.Cys300Ser"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 913,
          "referenceAllele": "G",
          "start": 912
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017978",
      "geneNCBI_id": 126792,
      "geneSymbol": "B3GALT6",
      "hgvs": [
        "ENST00000379198.3:c.899G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000368496.2:p.Cys300Ser",
        "hgvsWellDefined": "ENSP00000368496.2:p.Cys300Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS272386"
    },
    {
      "@id": "http://reg.genome.network/allele/PA096509",
      "coordinates": [
        {
          "allele": "C",
          "end": 929,
          "referenceAllele": "G",
          "start": 928
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017978",
      "geneNCBI_id": 126792,
      "geneSymbol": "B3GALT6",
      "hgvs": [
        "NM_080605.3:c.899G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_542172.2:p.Cys300Ser",
        "hgvsWellDefined": "NP_542172.2:p.Cys300Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS040188"
    },
    {
      "@id": "http://reg.genome.network/allele/PA096509",
      "coordinates": [
        {
          "allele": "C",
          "end": 941,
          "referenceAllele": "G",
          "start": 940
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017978",
      "geneNCBI_id": 126792,
      "geneSymbol": "B3GALT6",
      "hgvs": [
        "NM_080605.4:c.899G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_542172.2:p.Cys300Ser",
        "hgvsWellDefined": "NP_542172.2:p.Cys300Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS526445",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000379198.5:c.899G>C"
          },
          "RefSeq": {
            "hgvs": "NM_080605.4:c.899G>C"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000368496.2:p.Cys300Ser"
          },
          "RefSeq": {
            "hgvs": "NP_542172.2:p.Cys300Ser"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}