{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA2155953296",
  "communityStandardTitle": [
    "NM_000295.5(SERPINA1):c.*115T="
  ],
  "externalRecords": {
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/1595597256",
        "rs": 1595597256
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "14",
      "coordinates": [
        {
          "allele": "A",
          "end": 94378334,
          "referenceAllele": "A",
          "start": 94378333
        }
      ],
      "hgvs": [
        "NC_000014.9:g.94378334A=",
        "CM000676.2:g.94378334A="
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000062"
    },
    {
      "chromosome": "14",
      "coordinates": [
        {
          "allele": "A",
          "end": 94844671,
          "referenceAllele": "A",
          "start": 94844670
        }
      ],
      "hgvs": [
        "NC_000014.8:g.94844671A=",
        "CM000676.1:g.94844671A="
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000038"
    },
    {
      "chromosome": "14",
      "coordinates": [
        {
          "allele": "A",
          "end": 93914424,
          "referenceAllele": "A",
          "start": 93914423
        }
      ],
      "hgvs": [
        "NC_000014.7:g.93914424A="
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000014"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 17359,
          "referenceAllele": "T",
          "start": 17358
        }
      ],
      "hgvs": [
        "NG_008290.1:g.17359T="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001004"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1419,
          "referenceAllele": "T",
          "start": 1418
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008941",
      "geneNCBI_id": 5265,
      "geneSymbol": "SERPINA1",
      "hgvs": [
        "ENST00000393087.9:c.*115T="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000376802.4:n.*115T="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS753093",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000393087.9:c.*115T="
          },
          "RefSeq": {
            "hgvs": "NM_000295.5:c.*115T="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000376802.4:n.*115T="
          },
          "RefSeq": {
            "hgvs": "NP_000286.3:n.*115T="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1649,
          "referenceAllele": "T",
          "start": 1648
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008941",
      "geneNCBI_id": 5265,
      "geneSymbol": "SERPINA1",
      "hgvs": [
        "ENST00000355814.8:c.*115T="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000348068.4:n.*115T="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS263559"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1753,
          "referenceAllele": "T",
          "start": 1752
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008941",
      "geneNCBI_id": 5265,
      "geneSymbol": "SERPINA1",
      "hgvs": [
        "ENST00000437397.5:c.*115T="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000408474.1:n.*115T="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS294442"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1557,
          "referenceAllele": "T",
          "start": 1556
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008941",
      "geneNCBI_id": 5265,
      "geneSymbol": "SERPINA1",
      "hgvs": [
        "ENST00000440909.5:c.*115T="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000390299.1:n.*115T="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS296122"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1945,
          "referenceAllele": "T",
          "start": 1944
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008941",
      "geneNCBI_id": 5265,
      "geneSymbol": "SERPINA1",
      "hgvs": [
        "ENST00000448921.5:c.*115T="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000416066.1:n.*115T="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS299955"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1633,
          "referenceAllele": "T",
          "start": 1632
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008941",
      "geneNCBI_id": 5265,
      "geneSymbol": "SERPINA1",
      "hgvs": [
        "NM_000295.4:c.*115T="
      ],
      "proteinEffect": {
        "hgvs": "NP_000286.3:n.*115T="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006356"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1612,
          "referenceAllele": "T",
          "start": 1611
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008941",
      "geneNCBI_id": 5265,
      "geneSymbol": "SERPINA1",
      "hgvs": [
        "NM_001002235.2:c.*115T="
      ],
      "proteinEffect": {
        "hgvs": "NP_001002235.1:n.*115T="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS007233"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1926,
          "referenceAllele": "T",
          "start": 1925
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008941",
      "geneNCBI_id": 5265,
      "geneSymbol": "SERPINA1",
      "hgvs": [
        "NM_001002236.2:c.*115T="
      ],
      "proteinEffect": {
        "hgvs": "NP_001002236.1:n.*115T="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS007234"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1649,
          "referenceAllele": "T",
          "start": 1648
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008941",
      "geneNCBI_id": 5265,
      "geneSymbol": "SERPINA1",
      "hgvs": [
        "NM_001127700.1:c.*115T="
      ],
      "proteinEffect": {
        "hgvs": "NP_001121172.1:n.*115T="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS011682"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1945,
          "referenceAllele": "T",
          "start": 1944
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008941",
      "geneNCBI_id": 5265,
      "geneSymbol": "SERPINA1",
      "hgvs": [
        "NM_001127701.1:c.*115T="
      ],
      "proteinEffect": {
        "hgvs": "NP_001121173.1:n.*115T="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS011683"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1753,
          "referenceAllele": "T",
          "start": 1752
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008941",
      "geneNCBI_id": 5265,
      "geneSymbol": "SERPINA1",
      "hgvs": [
        "NM_001127702.1:c.*115T="
      ],
      "proteinEffect": {
        "hgvs": "NP_001121174.1:n.*115T="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS011684"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1908,
          "referenceAllele": "T",
          "start": 1907
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008941",
      "geneNCBI_id": 5265,
      "geneSymbol": "SERPINA1",
      "hgvs": [
        "NM_001127703.1:c.*115T="
      ],
      "proteinEffect": {
        "hgvs": "NP_001121175.1:n.*115T="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS011685"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1905,
          "referenceAllele": "T",
          "start": 1904
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008941",
      "geneNCBI_id": 5265,
      "geneSymbol": "SERPINA1",
      "hgvs": [
        "NM_001127704.1:c.*115T="
      ],
      "proteinEffect": {
        "hgvs": "NP_001121176.1:n.*115T="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS011686"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1923,
          "referenceAllele": "T",
          "start": 1922
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008941",
      "geneNCBI_id": 5265,
      "geneSymbol": "SERPINA1",
      "hgvs": [
        "NM_001127705.1:c.*115T="
      ],
      "proteinEffect": {
        "hgvs": "NP_001121177.1:n.*115T="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS011687"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1716,
          "referenceAllele": "T",
          "start": 1715
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008941",
      "geneNCBI_id": 5265,
      "geneSymbol": "SERPINA1",
      "hgvs": [
        "NM_001127706.1:c.*115T="
      ],
      "proteinEffect": {
        "hgvs": "NP_001121178.1:n.*115T="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS011688"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1713,
          "referenceAllele": "T",
          "start": 1712
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008941",
      "geneNCBI_id": 5265,
      "geneSymbol": "SERPINA1",
      "hgvs": [
        "NM_001127707.1:c.*115T="
      ],
      "proteinEffect": {
        "hgvs": "NP_001121179.1:n.*115T="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS011689"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1419,
          "referenceAllele": "T",
          "start": 1418
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008941",
      "geneNCBI_id": 5265,
      "geneSymbol": "SERPINA1",
      "hgvs": [
        "NM_000295.5:c.*115T="
      ],
      "proteinEffect": {
        "hgvs": "NP_000286.3:n.*115T="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS674776",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000393087.9:c.*115T="
          },
          "RefSeq": {
            "hgvs": "NM_000295.5:c.*115T="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000376802.4:n.*115T="
          },
          "RefSeq": {
            "hgvs": "NP_000286.3:n.*115T="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1555,
          "referenceAllele": "T",
          "start": 1554
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008941",
      "geneNCBI_id": 5265,
      "geneSymbol": "SERPINA1",
      "hgvs": [
        "NM_001002235.3:c.*115T="
      ],
      "proteinEffect": {
        "hgvs": "NP_001002235.1:n.*115T="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS675068"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1869,
          "referenceAllele": "T",
          "start": 1868
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008941",
      "geneNCBI_id": 5265,
      "geneSymbol": "SERPINA1",
      "hgvs": [
        "NM_001002236.3:c.*115T="
      ],
      "proteinEffect": {
        "hgvs": "NP_001002236.1:n.*115T="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS675069"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1592,
          "referenceAllele": "T",
          "start": 1591
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008941",
      "geneNCBI_id": 5265,
      "geneSymbol": "SERPINA1",
      "hgvs": [
        "NM_001127700.2:c.*115T="
      ],
      "proteinEffect": {
        "hgvs": "NP_001121172.1:n.*115T="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS676934"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1888,
          "referenceAllele": "T",
          "start": 1887
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008941",
      "geneNCBI_id": 5265,
      "geneSymbol": "SERPINA1",
      "hgvs": [
        "NM_001127701.2:c.*115T="
      ],
      "proteinEffect": {
        "hgvs": "NP_001121173.1:n.*115T="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS676935"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1696,
          "referenceAllele": "T",
          "start": 1695
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008941",
      "geneNCBI_id": 5265,
      "geneSymbol": "SERPINA1",
      "hgvs": [
        "NM_001127702.2:c.*115T="
      ],
      "proteinEffect": {
        "hgvs": "NP_001121174.1:n.*115T="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS676936"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1851,
          "referenceAllele": "T",
          "start": 1850
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008941",
      "geneNCBI_id": 5265,
      "geneSymbol": "SERPINA1",
      "hgvs": [
        "NM_001127703.2:c.*115T="
      ],
      "proteinEffect": {
        "hgvs": "NP_001121175.1:n.*115T="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS676937"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1848,
          "referenceAllele": "T",
          "start": 1847
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008941",
      "geneNCBI_id": 5265,
      "geneSymbol": "SERPINA1",
      "hgvs": [
        "NM_001127704.2:c.*115T="
      ],
      "proteinEffect": {
        "hgvs": "NP_001121176.1:n.*115T="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS676938"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1866,
          "referenceAllele": "T",
          "start": 1865
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008941",
      "geneNCBI_id": 5265,
      "geneSymbol": "SERPINA1",
      "hgvs": [
        "NM_001127705.2:c.*115T="
      ],
      "proteinEffect": {
        "hgvs": "NP_001121177.1:n.*115T="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS676939"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1659,
          "referenceAllele": "T",
          "start": 1658
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008941",
      "geneNCBI_id": 5265,
      "geneSymbol": "SERPINA1",
      "hgvs": [
        "NM_001127706.2:c.*115T="
      ],
      "proteinEffect": {
        "hgvs": "NP_001121178.1:n.*115T="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS676940"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1656,
          "referenceAllele": "T",
          "start": 1655
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008941",
      "geneNCBI_id": 5265,
      "geneSymbol": "SERPINA1",
      "hgvs": [
        "NM_001127707.2:c.*115T="
      ],
      "proteinEffect": {
        "hgvs": "NP_001121179.1:n.*115T="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS676941"
    }
  ],
  "type": "nucleotide"
}