{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA9564982",
  "communityStandardTitle": [
    "NM_033377.2(CGB1):c.52G>A (p.Ala18Thr)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=2212116[alleleid]",
        "alleleId": 2212116,
        "preferredName": "NM_033377.2(CGB1):c.52G>A (p.Ala18Thr)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/2226109",
        "RCV": [
          "RCV004089018"
        ],
        "variationId": 2226109
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/19-49539518-C-T",
        "id": "19-49539518-C-T",
        "variant": "19:49539518 C / T"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr19:g.49539518C>T?assembly=hg19",
        "id": "chr19:g.49539518C>T"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr19:g.49036261C>T?assembly=hg38",
        "id": "chr19:g.49036261C>T"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/553812864",
        "rs": 553812864
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/19-49539518-C-T?dataset=gnomad_r2_1",
        "id": "19-49539518-C-T",
        "variant": "19:49539518 C / T"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/19-49036261-C-T?dataset=gnomad_r3",
        "id": "19-49036261-C-T",
        "variant": "19:49036261 C / T"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/19-49036261-C-T?dataset=gnomad_r4",
        "id": "19-49036261-C-T",
        "variant": "19:49036261 C / T"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "19",
      "coordinates": [
        {
          "allele": "T",
          "end": 49036261,
          "referenceAllele": "C",
          "start": 49036260
        }
      ],
      "hgvs": [
        "NC_000019.10:g.49036261C>T",
        "CM000681.2:g.49036261C>T"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000067"
    },
    {
      "chromosome": "19",
      "coordinates": [
        {
          "allele": "T",
          "end": 49539518,
          "referenceAllele": "C",
          "start": 49539517
        }
      ],
      "hgvs": [
        "NC_000019.9:g.49539518C>T",
        "CM000681.1:g.49539518C>T"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000043"
    },
    {
      "chromosome": "19",
      "coordinates": [
        {
          "allele": "T",
          "end": 54231330,
          "referenceAllele": "C",
          "start": 54231329
        }
      ],
      "hgvs": [
        "NC_000019.8:g.54231330C>T"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000019"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 236,
          "referenceAllele": "G",
          "start": 235
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016721",
      "geneNCBI_id": 114335,
      "geneSymbol": "CGB1",
      "hgvs": [
        "ENST00000301407.8:c.52G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000301407.6:p.Ala18Thr",
        "hgvsWellDefined": "ENSP00000301407.6:p.Ala18Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS744841",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000301407.8:c.52G>A"
          },
          "RefSeq": {
            "hgvs": "NM_033377.2:c.52G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000301407.6:p.Ala18Thr"
          },
          "RefSeq": {
            "hgvs": "NP_203695.2:p.Ala18Thr"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 157,
          "referenceAllele": "G",
          "start": 156
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016721",
      "geneNCBI_id": 114335,
      "geneSymbol": "CGB1",
      "hgvs": [
        "ENST00000301407.7:c.52G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000301407.6:p.Ala18Thr",
        "hgvsWellDefined": "ENSP00000301407.6:p.Ala18Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS255008"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 370,
          "endIntronDirection": "+",
          "endIntronOffset": 265,
          "referenceAllele": "G",
          "start": 370,
          "startIntronDirection": "+",
          "startIntronOffset": 264
        }
      ],
      "hgvs": [
        "ENST00000591656.1:c.-28+265G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000466140.1:n.-28+265G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS393023"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 413,
          "referenceAllele": "G",
          "start": 412
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016721",
      "geneNCBI_id": 114335,
      "geneSymbol": "CGB1",
      "hgvs": [
        "ENST00000601167.1:c.16G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000472896.2:p.Ala6Thr",
        "hgvsWellDefined": "ENSP00000472896.2:p.Ala6Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS397613"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 183,
          "endIntronDirection": "+",
          "endIntronOffset": 442,
          "referenceAllele": "G",
          "start": 183,
          "startIntronDirection": "+",
          "startIntronOffset": 441
        }
      ],
      "hgvs": [
        "ENST00000604577.1:c.9+442G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000474022.1:n.9+442G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS399096"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2830107041",
      "coordinates": [
        {
          "allele": "A",
          "end": 275,
          "referenceAllele": "G",
          "start": 274
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016721",
      "geneNCBI_id": 114335,
      "geneSymbol": "CGB1",
      "hgvs": [
        "NM_033377.1:c.52G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_203695.2:p.Ala18Thr",
        "hgvsWellDefined": "NP_203695.2:p.Ala18Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS039703"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2580238005",
      "coordinates": [
        {
          "allele": "A",
          "end": 413,
          "referenceAllele": "G",
          "start": 412
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016721",
      "geneNCBI_id": 114335,
      "geneSymbol": "CGB1",
      "hgvs": [
        "NM_001382421.1:c.16G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001369350.1:p.Ala6Thr",
        "hgvsWellDefined": "NP_001369350.1:p.Ala6Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS722338"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2830107041",
      "coordinates": [
        {
          "allele": "A",
          "end": 236,
          "referenceAllele": "G",
          "start": 235
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016721",
      "geneNCBI_id": 114335,
      "geneSymbol": "CGB1",
      "hgvs": [
        "NM_033377.2:c.52G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_203695.2:p.Ala18Thr",
        "hgvsWellDefined": "NP_203695.2:p.Ala18Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS728946",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000301407.8:c.52G>A"
          },
          "RefSeq": {
            "hgvs": "NM_033377.2:c.52G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000301407.6:p.Ala18Thr"
          },
          "RefSeq": {
            "hgvs": "NP_203695.2:p.Ala18Thr"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}