{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA290120379",
  "communityStandardTitle": [
    "NM_024835.5(GGNBP2):c.-254G>T"
  ],
  "externalRecords": {
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr17:g.34900799G>T?assembly=hg19",
        "id": "chr17:g.34900799G>T"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr17:g.36544950G>T?assembly=hg38",
        "id": "chr17:g.36544950G>T"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/553160456",
        "rs": 553160456
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/17-34900799-G-T?dataset=gnomad_r2_1",
        "id": "17-34900799-G-T",
        "variant": "17:34900799 G / T"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/17-36544950-G-T?dataset=gnomad_r3",
        "id": "17-36544950-G-T",
        "variant": "17:36544950 G / T"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/17-36544950-G-T?dataset=gnomad_r4",
        "id": "17-36544950-G-T",
        "variant": "17:36544950 G / T"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "17",
      "coordinates": [
        {
          "allele": "T",
          "end": 36544950,
          "referenceAllele": "G",
          "start": 36544949
        }
      ],
      "hgvs": [
        "NC_000017.11:g.36544950G>T",
        "CM000679.2:g.36544950G>T"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000065"
    },
    {
      "chromosome": "17",
      "coordinates": [
        {
          "allele": "T",
          "end": 34900799,
          "referenceAllele": "G",
          "start": 34900798
        }
      ],
      "hgvs": [
        "NC_000017.10:g.34900799G>T",
        "CM000679.1:g.34900799G>T"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000041"
    },
    {
      "chromosome": "17",
      "coordinates": [
        {
          "allele": "T",
          "end": 31974912,
          "referenceAllele": "G",
          "start": 31974911
        }
      ],
      "hgvs": [
        "NC_000017.9:g.31974912G>T"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000017"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 32,
          "referenceAllele": "G",
          "start": 31
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019357",
      "geneNCBI_id": 79893,
      "geneSymbol": "GGNBP2",
      "hgvs": [
        "ENST00000613102.5:c.-254G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000478220.1:n.-254G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS761908",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000613102.5:c.-254G>T"
          },
          "RefSeq": {
            "hgvs": "NM_024835.5:c.-254G>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000478220.1:n.-254G>T"
          },
          "RefSeq": {
            "hgvs": "NP_079111.1:n.-254G>T"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 39,
          "referenceAllele": "G",
          "start": 38
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019357",
      "geneNCBI_id": 79893,
      "geneSymbol": "GGNBP2",
      "hgvs": [
        "ENST00000611219.1:c.-254G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000483332.1:n.-254G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS400753"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 63,
          "referenceAllele": "G",
          "start": 62
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019357",
      "geneNCBI_id": 79893,
      "geneSymbol": "GGNBP2",
      "hgvs": [
        "ENST00000613102.4:c.-254G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000478220.1:n.-254G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS401602"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 32,
          "referenceAllele": "G",
          "start": 31
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019357",
      "geneNCBI_id": 79893,
      "geneSymbol": "GGNBP2",
      "hgvs": [
        "ENST00000617860.4:n.32G>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS403664"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 19,
          "referenceAllele": "G",
          "start": 18
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019357",
      "geneNCBI_id": 79893,
      "geneSymbol": "GGNBP2",
      "hgvs": [
        "ENST00000618837.4:n.19G>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS404109"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 63,
          "referenceAllele": "G",
          "start": 62
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019357",
      "geneNCBI_id": 79893,
      "geneSymbol": "GGNBP2",
      "hgvs": [
        "NM_024835.4:c.-254G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_079111.1:n.-254G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS038057"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 39,
          "referenceAllele": "G",
          "start": 38
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019357",
      "geneNCBI_id": 79893,
      "geneSymbol": "GGNBP2",
      "hgvs": [
        "XM_005257689.2:c.-254G>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005257746.1:n.-254G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS061800"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 29,
          "referenceAllele": "G",
          "start": 28
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019357",
      "geneNCBI_id": 79893,
      "geneSymbol": "GGNBP2",
      "hgvs": [
        "XM_011525265.1:c.-148G>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011523567.1:n.-148G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS092384"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 39,
          "referenceAllele": "G",
          "start": 38
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019357",
      "geneNCBI_id": 79893,
      "geneSymbol": "GGNBP2",
      "hgvs": [
        "XM_011525266.1:c.-254G>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011523568.1:n.-254G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS092385"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 38,
          "referenceAllele": "G",
          "start": 37
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019357",
      "geneNCBI_id": 79893,
      "geneSymbol": "GGNBP2",
      "hgvs": [
        "XM_005257689.3:c.-254G>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005257746.1:n.-254G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS534703"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 36,
          "referenceAllele": "G",
          "start": 35
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019357",
      "geneNCBI_id": 79893,
      "geneSymbol": "GGNBP2",
      "hgvs": [
        "XM_011525265.3:c.-148G>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011523567.1:n.-148G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS547813"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 38,
          "referenceAllele": "G",
          "start": 37
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019357",
      "geneNCBI_id": 79893,
      "geneSymbol": "GGNBP2",
      "hgvs": [
        "XM_011525266.2:c.-254G>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011523568.1:n.-254G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS547814"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 32,
          "referenceAllele": "G",
          "start": 31
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019357",
      "geneNCBI_id": 79893,
      "geneSymbol": "GGNBP2",
      "hgvs": [
        "NM_024835.5:c.-254G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_079111.1:n.-254G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS670816",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000613102.5:c.-254G>T"
          },
          "RefSeq": {
            "hgvs": "NM_024835.5:c.-254G>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000478220.1:n.-254G>T"
          },
          "RefSeq": {
            "hgvs": "NP_079111.1:n.-254G>T"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}