{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA375756091",
  "communityStandardTitle": [
    "NM_006088.6(TUBB4B):c.1171C>T (p.Arg391Cys)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=485878[alleleid]",
        "alleleId": 485878,
        "preferredName": "NM_006088.6(TUBB4B):c.1171C>T (p.Arg391Cys)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/492939",
        "RCV": [
          "RCV000584738",
          "RCV001755979"
        ],
        "variationId": 492939
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr9:g.140137841C>T?assembly=hg19",
        "id": "chr9:g.140137841C>T"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr9:g.137243389C>T?assembly=hg38",
        "id": "chr9:g.137243389C>T"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/1554786802",
        "rs": 1554786802
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "9",
      "coordinates": [
        {
          "allele": "T",
          "end": 137243389,
          "referenceAllele": "C",
          "start": 137243388
        }
      ],
      "hgvs": [
        "NC_000009.12:g.137243389C>T",
        "CM000671.2:g.137243389C>T"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000057"
    },
    {
      "chromosome": "9",
      "coordinates": [
        {
          "allele": "T",
          "end": 140137841,
          "referenceAllele": "C",
          "start": 140137840
        }
      ],
      "hgvs": [
        "NC_000009.11:g.140137841C>T",
        "CM000671.1:g.140137841C>T"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000033"
    },
    {
      "chromosome": "9",
      "coordinates": [
        {
          "allele": "T",
          "end": 139257662,
          "referenceAllele": "C",
          "start": 139257661
        }
      ],
      "hgvs": [
        "NC_000009.10:g.139257662C>T"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000009"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1245,
          "referenceAllele": "C",
          "start": 1244
        }
      ],
      "gene": "http://reg.genome.network/gene/GN020771",
      "geneNCBI_id": 10383,
      "geneSymbol": "TUBB4B",
      "hgvs": [
        "ENST00000340384.5:c.1171C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000341289.4:p.Arg391Cys",
        "hgvsWellDefined": "ENSP00000341289.4:p.Arg391Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS747900",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000340384.5:c.1171C>T"
          },
          "RefSeq": {
            "hgvs": "NM_006088.6:c.1171C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000341289.4:p.Arg391Cys"
          },
          "RefSeq": {
            "hgvs": "NP_006079.1:p.Arg391Cys"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1319,
          "referenceAllele": "C",
          "start": 1318
        }
      ],
      "gene": "http://reg.genome.network/gene/GN020771",
      "geneNCBI_id": 10383,
      "geneSymbol": "TUBB4B",
      "hgvs": [
        "ENST00000340384.4:c.1171C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000341289.4:p.Arg391Cys",
        "hgvsWellDefined": "ENSP00000341289.4:p.Arg391Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS261083"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1718,
          "referenceAllele": "C",
          "start": 1717
        }
      ],
      "gene": "http://reg.genome.network/gene/GN020771",
      "geneNCBI_id": 10383,
      "geneSymbol": "TUBB4B",
      "hgvs": [
        "ENST00000604929.1:n.1718C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS399245"
    },
    {
      "@id": "http://reg.genome.network/allele/PA658732276",
      "coordinates": [
        {
          "allele": "T",
          "end": 1273,
          "referenceAllele": "C",
          "start": 1272
        }
      ],
      "gene": "http://reg.genome.network/gene/GN020771",
      "geneNCBI_id": 10383,
      "geneSymbol": "TUBB4B",
      "hgvs": [
        "NM_006088.5:c.1171C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_006079.1:p.Arg391Cys",
        "hgvsWellDefined": "NP_006079.1:p.Arg391Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS031127"
    },
    {
      "@id": "http://reg.genome.network/allele/PA658732276",
      "coordinates": [
        {
          "allele": "T",
          "end": 1245,
          "referenceAllele": "C",
          "start": 1244
        }
      ],
      "gene": "http://reg.genome.network/gene/GN020771",
      "geneNCBI_id": 10383,
      "geneSymbol": "TUBB4B",
      "hgvs": [
        "NM_006088.6:c.1171C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_006079.1:p.Arg391Cys",
        "hgvsWellDefined": "NP_006079.1:p.Arg391Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS667286",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000340384.5:c.1171C>T"
          },
          "RefSeq": {
            "hgvs": "NM_006088.6:c.1171C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000341289.4:p.Arg391Cys"
          },
          "RefSeq": {
            "hgvs": "NP_006079.1:p.Arg391Cys"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}