{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA7850870",
  "communityStandardTitle": [
    "NM_145252.3(ZG16B):c.156T>G (p.Ser52Arg)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=2195323[alleleid]",
        "alleleId": 2195323,
        "preferredName": "NM_145252.3(ZG16B):c.156T>G (p.Ser52Arg)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/2214475",
        "RCV": [
          "RCV004080245"
        ],
        "variationId": 2214475
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/16-2881797-T-G",
        "id": "16-2881797-T-G",
        "variant": "16:2881797 T / G"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr16:g.2881797T>G?assembly=hg19",
        "id": "chr16:g.2881797T>G"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr16:g.2831796T>G?assembly=hg38",
        "id": "chr16:g.2831796T>G"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/757617625",
        "rs": 757617625
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/16-2881797-T-G?dataset=gnomad_r2_1",
        "id": "16-2881797-T-G",
        "variant": "16:2881797 T / G"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/16-2831796-T-G?dataset=gnomad_r3",
        "id": "16-2831796-T-G",
        "variant": "16:2831796 T / G"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/16-2831796-T-G?dataset=gnomad_r4",
        "id": "16-2831796-T-G",
        "variant": "16:2831796 T / G"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "16",
      "coordinates": [
        {
          "allele": "G",
          "end": 2831796,
          "referenceAllele": "T",
          "start": 2831795
        }
      ],
      "hgvs": [
        "NC_000016.10:g.2831796T>G",
        "CM000678.2:g.2831796T>G"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000064"
    },
    {
      "chromosome": "16",
      "coordinates": [
        {
          "allele": "G",
          "end": 2881797,
          "referenceAllele": "T",
          "start": 2881796
        }
      ],
      "hgvs": [
        "NC_000016.9:g.2881797T>G",
        "CM000678.1:g.2881797T>G"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000040"
    },
    {
      "chromosome": "16",
      "coordinates": [
        {
          "allele": "G",
          "end": 2821798,
          "referenceAllele": "T",
          "start": 2821797
        }
      ],
      "hgvs": [
        "NC_000016.8:g.2821798T>G"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000016"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 209,
          "referenceAllele": "T",
          "start": 208
        }
      ],
      "gene": "http://reg.genome.network/gene/GN030456",
      "geneNCBI_id": 124220,
      "geneSymbol": "ZG16B",
      "hgvs": [
        "ENST00000382280.8:c.156T>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000371715.4:p.Ser52Arg",
        "hgvsWellDefined": "ENSP00000371715.4:p.Ser52Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS824410",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000382280.8:c.156T>G"
          },
          "RefSeq": {
            "hgvs": "NM_145252.3:c.156T>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000371715.4:p.Ser52Arg"
          },
          "RefSeq": {
            "hgvs": "NP_660295.3:p.Ser52Arg"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 258,
          "endIntronDirection": "+",
          "endIntronOffset": 1000,
          "referenceAllele": "T",
          "start": 258,
          "startIntronDirection": "+",
          "startIntronOffset": 999
        }
      ],
      "gene": "http://reg.genome.network/gene/GN030456",
      "geneNCBI_id": 124220,
      "geneSymbol": "ZG16B",
      "hgvs": [
        "ENST00000570670.6:c.155+1000T>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000460793.2:n.155+1000T>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS826164"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 230,
          "referenceAllele": "T",
          "start": 229
        }
      ],
      "gene": "http://reg.genome.network/gene/GN030456",
      "geneNCBI_id": 124220,
      "geneSymbol": "ZG16B",
      "hgvs": [
        "ENST00000572863.2:c.156T>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000461740.2:p.Ser52Arg",
        "hgvsWellDefined": "ENSP00000461740.2:p.Ser52Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS826170"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 343,
          "referenceAllele": "T",
          "start": 342
        }
      ],
      "gene": "http://reg.genome.network/gene/GN030456",
      "geneNCBI_id": 124220,
      "geneSymbol": "ZG16B",
      "hgvs": [
        "ENST00000382280.7:c.264T>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000371715.3:p.Ser88Arg",
        "hgvsWellDefined": "ENSP00000371715.3:p.Ser88Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS273687"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 258,
          "endIntronDirection": "+",
          "endIntronOffset": 1000,
          "referenceAllele": "T",
          "start": 258,
          "startIntronDirection": "+",
          "startIntronOffset": 999
        }
      ],
      "gene": "http://reg.genome.network/gene/GN030456",
      "geneNCBI_id": 124220,
      "geneSymbol": "ZG16B",
      "hgvs": [
        "ENST00000570670.5:c.258+1000T>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS382186"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 230,
          "referenceAllele": "T",
          "start": 229
        }
      ],
      "gene": "http://reg.genome.network/gene/GN030456",
      "geneNCBI_id": 124220,
      "geneSymbol": "ZG16B",
      "hgvs": [
        "ENST00000572863.1:c.174T>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000461740.1:p.Ser58Arg",
        "hgvsWellDefined": "ENSP00000461740.1:p.Ser58Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS383075"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 408,
          "referenceAllele": "T",
          "start": 407
        }
      ],
      "gene": "http://reg.genome.network/gene/GN030456",
      "geneNCBI_id": 124220,
      "geneSymbol": "ZG16B",
      "hgvs": [
        "ENST00000573019.1:n.408T>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS383145"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 340,
          "referenceAllele": "T",
          "start": 339
        }
      ],
      "gene": "http://reg.genome.network/gene/GN030456",
      "geneNCBI_id": 124220,
      "geneSymbol": "ZG16B",
      "hgvs": [
        "NM_145252.2:c.264T>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_660295.2:p.Ser88Arg",
        "hgvsWellDefined": "NP_660295.2:p.Ser88Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS041414"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2580509755",
      "coordinates": [
        {
          "allele": "G",
          "end": 209,
          "referenceAllele": "T",
          "start": 208
        }
      ],
      "gene": "http://reg.genome.network/gene/GN030456",
      "geneNCBI_id": 124220,
      "geneSymbol": "ZG16B",
      "hgvs": [
        "NM_145252.3:c.156T>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_660295.3:p.Ser52Arg",
        "hgvsWellDefined": "NP_660295.3:p.Ser52Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS729280",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000382280.8:c.156T>G"
          },
          "RefSeq": {
            "hgvs": "NM_145252.3:c.156T>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000371715.4:p.Ser52Arg"
          },
          "RefSeq": {
            "hgvs": "NP_660295.3:p.Ser52Arg"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}