{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA16040705",
  "communityStandardTitle": [
    "NM_000228.3(LAMB3):c.505C>T (p.Gln169Ter)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=357047[alleleid]",
        "alleleId": 357047,
        "preferredName": "NM_000228.3(LAMB3):c.505C>T (p.Gln169Ter)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/370322",
        "RCV": [
          "RCV000411400"
        ],
        "variationId": 370322
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr1:g.209807851G>A?assembly=hg19",
        "id": "chr1:g.209807851G>A"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr1:g.209634506G>A?assembly=hg38",
        "id": "chr1:g.209634506G>A"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/1057516399",
        "rs": 1057516399
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "1",
      "coordinates": [
        {
          "allele": "A",
          "end": 209634506,
          "referenceAllele": "G",
          "start": 209634505
        }
      ],
      "hgvs": [
        "NC_000001.11:g.209634506G>A",
        "CM000663.2:g.209634506G>A"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000049"
    },
    {
      "chromosome": "1",
      "coordinates": [
        {
          "allele": "A",
          "end": 209807851,
          "referenceAllele": "G",
          "start": 209807850
        }
      ],
      "hgvs": [
        "NC_000001.10:g.209807851G>A",
        "CM000663.1:g.209807851G>A"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000025"
    },
    {
      "chromosome": "1",
      "coordinates": [
        {
          "allele": "A",
          "end": 207874474,
          "referenceAllele": "G",
          "start": 207874473
        }
      ],
      "hgvs": [
        "NC_000001.9:g.207874474G>A"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000001"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 22970,
          "referenceAllele": "C",
          "start": 22969
        }
      ],
      "hgvs": [
        "NG_007116.1:g.22970C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS000490"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 599,
          "referenceAllele": "C",
          "start": 598
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006490",
      "geneNCBI_id": 3914,
      "geneSymbol": "LAMB3",
      "hgvs": [
        "ENST00000356082.9:c.505C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000348384.3:p.Gln169Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS748745",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000356082.9:c.505C>T"
          },
          "RefSeq": {
            "hgvs": "NM_000228.3:c.505C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000348384.3:p.Gln169Ter"
          },
          "RefSeq": {
            "hgvs": "NP_000219.2:p.Gln169Ter"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 640,
          "referenceAllele": "C",
          "start": 639
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006490",
      "geneNCBI_id": 3914,
      "geneSymbol": "LAMB3",
      "hgvs": [
        "ENST00000356082.8:c.505C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000348384.3:p.Gln169Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS263639"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 623,
          "referenceAllele": "C",
          "start": 622
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006490",
      "geneNCBI_id": 3914,
      "geneSymbol": "LAMB3",
      "hgvs": [
        "ENST00000367030.7:c.505C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000355997.3:p.Gln169Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS266160"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 895,
          "referenceAllele": "C",
          "start": 894
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006490",
      "geneNCBI_id": 3914,
      "geneSymbol": "LAMB3",
      "hgvs": [
        "ENST00000391911.5:c.505C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000375778.1:p.Gln169Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS274821"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 849,
          "referenceAllele": "C",
          "start": 848
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006490",
      "geneNCBI_id": 3914,
      "geneSymbol": "LAMB3",
      "hgvs": [
        "ENST00000415782.1:c.505C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000388960.1:p.Gln169Ter",
        "hgvsWellDefined": "ENSP00000388960.1:p.Gln169_Lys188del"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS284146"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 649,
          "referenceAllele": "C",
          "start": 648
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006490",
      "geneNCBI_id": 3914,
      "geneSymbol": "LAMB3",
      "hgvs": [
        "NM_000228.2:c.505C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_000219.2:p.Gln169Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006291"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 895,
          "referenceAllele": "C",
          "start": 894
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006490",
      "geneNCBI_id": 3914,
      "geneSymbol": "LAMB3",
      "hgvs": [
        "NM_001017402.1:c.505C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001017402.1:p.Gln169Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS008570"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 623,
          "referenceAllele": "C",
          "start": 622
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006490",
      "geneNCBI_id": 3914,
      "geneSymbol": "LAMB3",
      "hgvs": [
        "NM_001127641.1:c.505C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001121113.1:p.Gln169Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS011655"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 827,
          "referenceAllele": "C",
          "start": 826
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006490",
      "geneNCBI_id": 3914,
      "geneSymbol": "LAMB3",
      "hgvs": [
        "XM_005273124.3:c.505C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005273181.1:p.Gln169Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS067455"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 831,
          "referenceAllele": "C",
          "start": 830
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006490",
      "geneNCBI_id": 3914,
      "geneSymbol": "LAMB3",
      "hgvs": [
        "XM_005273124.4:c.505C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005273181.1:p.Gln169Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS537386"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 508,
          "endIntronDirection": "-",
          "endIntronOffset": 1372,
          "referenceAllele": "C",
          "start": 508,
          "startIntronDirection": "-",
          "startIntronOffset": 1373
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006490",
      "geneNCBI_id": 3914,
      "geneSymbol": "LAMB3",
      "hgvs": [
        "XM_017001272.2:c.373-1373C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_016856761.1:n.373-1373C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS557479"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 599,
          "referenceAllele": "C",
          "start": 598
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006490",
      "geneNCBI_id": 3914,
      "geneSymbol": "LAMB3",
      "hgvs": [
        "NM_000228.3:c.505C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_000219.2:p.Gln169Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS662364",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000356082.9:c.505C>T"
          },
          "RefSeq": {
            "hgvs": "NM_000228.3:c.505C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000348384.3:p.Gln169Ter"
          },
          "RefSeq": {
            "hgvs": "NP_000219.2:p.Gln169Ter"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 935,
          "referenceAllele": "C",
          "start": 934
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006490",
      "geneNCBI_id": 3914,
      "geneSymbol": "LAMB3",
      "hgvs": [
        "NM_001017402.2:c.505C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001017402.1:p.Gln169Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS711378"
    }
  ],
  "type": "nucleotide"
}