{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA340377",
  "communityStandardTitle": [
    "NM_007375.4(TARDBP):c.506A>G (p.Asp169Gly)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=20272[alleleid]",
        "alleleId": 20272,
        "preferredName": "NM_007375.4(TARDBP):c.506A>G (p.Asp169Gly)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/5233",
        "RCV": [
          "RCV000005544"
        ],
        "variationId": 5233
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr1:g.11078893A>G?assembly=hg19",
        "id": "chr1:g.11078893A>G"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr1:g.11018836A>G?assembly=hg38",
        "id": "chr1:g.11018836A>G"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/80356717",
        "rs": 80356717
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "1",
      "coordinates": [
        {
          "allele": "G",
          "end": 11018836,
          "referenceAllele": "A",
          "start": 11018835
        }
      ],
      "hgvs": [
        "NC_000001.11:g.11018836A>G",
        "CM000663.2:g.11018836A>G"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000049"
    },
    {
      "chromosome": "1",
      "coordinates": [
        {
          "allele": "G",
          "end": 11078893,
          "referenceAllele": "A",
          "start": 11078892
        }
      ],
      "hgvs": [
        "NC_000001.10:g.11078893A>G",
        "CM000663.1:g.11078893A>G"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000025"
    },
    {
      "chromosome": "1",
      "coordinates": [
        {
          "allele": "G",
          "end": 11001480,
          "referenceAllele": "A",
          "start": 11001479
        }
      ],
      "hgvs": [
        "NC_000001.9:g.11001480A>G"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000001"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 11215,
          "referenceAllele": "A",
          "start": 11214
        }
      ],
      "hgvs": [
        "NG_008734.1:g.11215A>G",
        "LRG_659:g.11215A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001192"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 608,
          "referenceAllele": "A",
          "start": 607
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011571",
      "geneNCBI_id": 23435,
      "geneSymbol": "TARDBP",
      "hgvs": [
        "ENST00000240185.8:c.506A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000240185.4:p.Asp169Gly",
        "hgvsWellDefined": "ENSP00000240185.4:p.Asp169Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS741078",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000240185.8:c.506A>G"
          },
          "RefSeq": {
            "hgvs": "NM_007375.4:c.506A>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000240185.4:p.Asp169Gly"
          },
          "RefSeq": {
            "hgvs": "NP_031401.1:p.Asp169Gly"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 575,
          "referenceAllele": "A",
          "start": 574
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011571",
      "geneNCBI_id": 23435,
      "geneSymbol": "TARDBP",
      "hgvs": [
        "ENST00000639083.1:c.506A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000491203.1:p.Asp169Gly",
        "hgvsWellDefined": "ENSP00000491203.1:p.Asp169Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS764859"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 700,
          "referenceAllele": "A",
          "start": 699
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011571",
      "geneNCBI_id": 23435,
      "geneSymbol": "TARDBP",
      "hgvs": [
        "ENST00000639599.1:c.506A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000492196.1:p.Asp169Gly",
        "hgvsWellDefined": "ENSP00000492196.1:p.Asp169Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS765099"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 506,
          "referenceAllele": "A",
          "start": 505
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011571",
      "geneNCBI_id": 23435,
      "geneSymbol": "TARDBP",
      "hgvs": [
        "ENST00000649624.1:c.506A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000497327.1:p.Asp169Gly",
        "hgvsWellDefined": "ENSP00000497327.1:p.Asp169Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS770641"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 862,
          "referenceAllele": "A",
          "start": 861
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011571",
      "geneNCBI_id": 23435,
      "geneSymbol": "TARDBP",
      "hgvs": [
        "ENST00000240185.7:c.506A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000240185.3:p.Asp169Gly",
        "hgvsWellDefined": "ENSP00000240185.3:p.Asp169Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS249125"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 518,
          "referenceAllele": "A",
          "start": 517
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011571",
      "geneNCBI_id": 23435,
      "geneSymbol": "TARDBP",
      "hgvs": [
        "ENST00000315091.7:c.506A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000313129.3:p.Asp169Gly",
        "hgvsWellDefined": "ENSP00000313129.3:p.Asp169Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS257045"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 445,
          "referenceAllele": "A",
          "start": 444
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011571",
      "geneNCBI_id": 23435,
      "geneSymbol": "TARDBP",
      "hgvs": [
        "ENST00000439080.6:c.*87A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000404666.3:n.*87A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS295244"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 740,
          "referenceAllele": "A",
          "start": 739
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011571",
      "geneNCBI_id": 23435,
      "geneSymbol": "TARDBP",
      "hgvs": [
        "ENST00000472476.5:c.*395A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000465080.1:n.*395A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS314433"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 603,
          "referenceAllele": "A",
          "start": 602
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011571",
      "geneNCBI_id": 23435,
      "geneSymbol": "TARDBP",
      "hgvs": [
        "ENST00000473118.5:c.506A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000465240.1:p.Asp169Gly",
        "hgvsWellDefined": "ENSP00000465240.1:p.Asp169Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS314944"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 518,
          "referenceAllele": "A",
          "start": 517
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011571",
      "geneNCBI_id": 23435,
      "geneSymbol": "TARDBP",
      "hgvs": [
        "ENST00000473869.5:c.506A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000432132.1:p.Asp169Gly",
        "hgvsWellDefined": "ENSP00000432132.1:p.Asp169Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS315512"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 731,
          "referenceAllele": "A",
          "start": 730
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011571",
      "geneNCBI_id": 23435,
      "geneSymbol": "TARDBP",
      "hgvs": [
        "ENST00000476201.5:c.629A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000466842.2:p.Asp210Gly",
        "hgvsWellDefined": "ENSP00000466842.2:p.Asp210Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS317317"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 146,
          "referenceAllele": "A",
          "start": 145
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011571",
      "geneNCBI_id": 23435,
      "geneSymbol": "TARDBP",
      "hgvs": [
        "ENST00000611963.4:c.146A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000481330.1:p.Asp49Gly",
        "hgvsWellDefined": "ENSP00000481330.1:p.Asp49Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS401093"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 600,
          "referenceAllele": "A",
          "start": 599
        }
      ],
      "hgvs": [
        "ENST00000614757.4:c.506A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000481867.1:p.Asp169Gly",
        "hgvsWellDefined": "ENSP00000481867.1:p.Asp169Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS402330"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 506,
          "referenceAllele": "A",
          "start": 505
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011571",
      "geneNCBI_id": 23435,
      "geneSymbol": "TARDBP",
      "hgvs": [
        "ENST00000616545.4:c.506A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000484722.1:p.Asp169Gly",
        "hgvsWellDefined": "ENSP00000484722.1:p.Asp169Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS403103"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 247,
          "referenceAllele": "A",
          "start": 246
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011571",
      "geneNCBI_id": 23435,
      "geneSymbol": "TARDBP",
      "hgvs": [
        "ENST00000617172.4:c.247A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS403366"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 234,
          "referenceAllele": "A",
          "start": 233
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011571",
      "geneNCBI_id": 23435,
      "geneSymbol": "TARDBP",
      "hgvs": [
        "ENST00000618606.1:n.234A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS404012"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 57,
          "referenceAllele": "A",
          "start": 56
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011571",
      "geneNCBI_id": 23435,
      "geneSymbol": "TARDBP",
      "hgvs": [
        "ENST00000619555.4:c.57A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS404430"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 57,
          "referenceAllele": "A",
          "start": 56
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011571",
      "geneNCBI_id": 23435,
      "geneSymbol": "TARDBP",
      "hgvs": [
        "ENST00000620632.4:c.57A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS404919"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 592,
          "referenceAllele": "A",
          "start": 591
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011571",
      "geneNCBI_id": 23435,
      "geneSymbol": "TARDBP",
      "hgvs": [
        "ENST00000621715.4:c.506A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000480690.1:p.Asp169Gly",
        "hgvsWellDefined": "ENSP00000480690.1:p.Asp169Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS405399"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 506,
          "referenceAllele": "A",
          "start": 505
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011571",
      "geneNCBI_id": 23435,
      "geneSymbol": "TARDBP",
      "hgvs": [
        "ENST00000621790.4:c.506A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000482191.1:p.Asp169Gly",
        "hgvsWellDefined": "ENSP00000482191.1:p.Asp169Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS405441"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 253,
          "referenceAllele": "A",
          "start": 252
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011571",
      "geneNCBI_id": 23435,
      "geneSymbol": "TARDBP",
      "hgvs": [
        "ENST00000622057.4:c.253A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS405543"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 640,
          "referenceAllele": "A",
          "start": 639
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011571",
      "geneNCBI_id": 23435,
      "geneSymbol": "TARDBP",
      "hgvs": [
        "ENST00000629725.2:c.506A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000486989.1:p.Asp169Gly",
        "hgvsWellDefined": "ENSP00000486989.1:p.Asp169Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS407264"
    },
    {
      "@id": "http://reg.genome.network/allele/PA113268",
      "coordinates": [
        {
          "allele": "G",
          "end": 640,
          "referenceAllele": "A",
          "start": 639
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011571",
      "geneNCBI_id": 23435,
      "geneSymbol": "TARDBP",
      "hgvs": [
        "NM_007375.3:c.506A>G",
        "LRG_659t1:c.506A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_031401.1:p.Asp169Gly",
        "hgvsWellDefined": "NP_031401.1:p.Asp169Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS032271"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 628,
          "referenceAllele": "A",
          "start": 627
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011571",
      "geneNCBI_id": 23435,
      "geneSymbol": "TARDBP",
      "hgvs": [
        "XR_946596.1:n.628A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS140180"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 628,
          "referenceAllele": "A",
          "start": 627
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011571",
      "geneNCBI_id": 23435,
      "geneSymbol": "TARDBP",
      "hgvs": [
        "XR_946597.1:n.628A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS140181"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 608,
          "referenceAllele": "A",
          "start": 607
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011571",
      "geneNCBI_id": 23435,
      "geneSymbol": "TARDBP",
      "hgvs": [
        "XM_017000863.2:c.506A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_016856352.1:p.Asp169Gly",
        "hgvsWellDefined": "XP_016856352.1:p.Asp169Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS557137"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 608,
          "referenceAllele": "A",
          "start": 607
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011571",
      "geneNCBI_id": 23435,
      "geneSymbol": "TARDBP",
      "hgvs": [
        "XM_017000864.2:c.506A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_016856353.1:p.Asp169Gly",
        "hgvsWellDefined": "XP_016856353.1:p.Asp169Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS557138"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 608,
          "referenceAllele": "A",
          "start": 607
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011571",
      "geneNCBI_id": 23435,
      "geneSymbol": "TARDBP",
      "hgvs": [
        "XM_017000865.2:c.506A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_016856354.1:p.Asp169Gly",
        "hgvsWellDefined": "XP_016856354.1:p.Asp169Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS557139"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 608,
          "referenceAllele": "A",
          "start": 607
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011571",
      "geneNCBI_id": 23435,
      "geneSymbol": "TARDBP",
      "hgvs": [
        "XM_017000866.2:c.506A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_016856355.1:p.Asp169Gly",
        "hgvsWellDefined": "XP_016856355.1:p.Asp169Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS557140"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 608,
          "referenceAllele": "A",
          "start": 607
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011571",
      "geneNCBI_id": 23435,
      "geneSymbol": "TARDBP",
      "hgvs": [
        "XM_017000867.2:c.506A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_016856356.1:p.Asp169Gly",
        "hgvsWellDefined": "XP_016856356.1:p.Asp169Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS557141"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 608,
          "referenceAllele": "A",
          "start": 607
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011571",
      "geneNCBI_id": 23435,
      "geneSymbol": "TARDBP",
      "hgvs": [
        "XM_017000868.2:c.506A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_016856357.1:p.Asp169Gly",
        "hgvsWellDefined": "XP_016856357.1:p.Asp169Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS557142"
    },
    {
      "@id": "http://reg.genome.network/allele/PA113268",
      "coordinates": [
        {
          "allele": "G",
          "end": 608,
          "referenceAllele": "A",
          "start": 607
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011571",
      "geneNCBI_id": 23435,
      "geneSymbol": "TARDBP",
      "hgvs": [
        "NM_007375.4:c.506A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_031401.1:p.Asp169Gly",
        "hgvsWellDefined": "NP_031401.1:p.Asp169Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS696982",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000240185.8:c.506A>G"
          },
          "RefSeq": {
            "hgvs": "NM_007375.4:c.506A>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000240185.4:p.Asp169Gly"
          },
          "RefSeq": {
            "hgvs": "NP_031401.1:p.Asp169Gly"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}