{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA487621086",
  "communityStandardTitle": [
    "NM_000295.5(SERPINA1):c.1239G>C (p.Val413=)"
  ],
  "externalRecords": {
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr14:g.94844804C>G?assembly=hg19",
        "id": "chr14:g.94844804C>G"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "14",
      "coordinates": [
        {
          "allele": "G",
          "end": 94378467,
          "referenceAllele": "C",
          "start": 94378466
        }
      ],
      "hgvs": [
        "NC_000014.9:g.94378467C>G",
        "CM000676.2:g.94378467C>G"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000062"
    },
    {
      "chromosome": "14",
      "coordinates": [
        {
          "allele": "G",
          "end": 94844804,
          "referenceAllele": "C",
          "start": 94844803
        }
      ],
      "hgvs": [
        "NC_000014.8:g.94844804C>G",
        "CM000676.1:g.94844804C>G"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000038"
    },
    {
      "chromosome": "14",
      "coordinates": [
        {
          "allele": "G",
          "end": 93914557,
          "referenceAllele": "C",
          "start": 93914556
        }
      ],
      "hgvs": [
        "NC_000014.7:g.93914557C>G"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000014"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 17226,
          "referenceAllele": "G",
          "start": 17225
        }
      ],
      "hgvs": [
        "NG_008290.1:g.17226G>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001004"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1286,
          "referenceAllele": "G",
          "start": 1285
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008941",
      "geneNCBI_id": 5265,
      "geneSymbol": "SERPINA1",
      "hgvs": [
        "ENST00000393087.9:c.1239G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000376802.4:p.Val413="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS753093",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000393087.9:c.1239G>C"
          },
          "RefSeq": {
            "hgvs": "NM_000295.5:c.1239G>C"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000376802.4:p.Val413="
          },
          "RefSeq": {
            "hgvs": "NP_000286.3:p.Val413="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1391,
          "referenceAllele": "G",
          "start": 1390
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008941",
      "geneNCBI_id": 5265,
      "geneSymbol": "SERPINA1",
      "hgvs": [
        "ENST00000636712.1:c.1239G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000490054.1:p.Val413="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS763327"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1516,
          "referenceAllele": "G",
          "start": 1515
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008941",
      "geneNCBI_id": 5265,
      "geneSymbol": "SERPINA1",
      "hgvs": [
        "ENST00000355814.8:c.1239G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000348068.4:p.Val413="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS263559"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1504,
          "referenceAllele": "G",
          "start": 1503
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008941",
      "geneNCBI_id": 5265,
      "geneSymbol": "SERPINA1",
      "hgvs": [
        "ENST00000393087.8:c.1239G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000376802.4:p.Val413="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS275446"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1794,
          "referenceAllele": "G",
          "start": 1793
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008941",
      "geneNCBI_id": 5265,
      "geneSymbol": "SERPINA1",
      "hgvs": [
        "ENST00000393088.8:c.1239G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000376803.4:p.Val413="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS275447"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1550,
          "referenceAllele": "G",
          "start": 1549
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008941",
      "geneNCBI_id": 5265,
      "geneSymbol": "SERPINA1",
      "hgvs": [
        "ENST00000404814.8:c.1239G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000385960.4:p.Val413="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS280169"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1620,
          "referenceAllele": "G",
          "start": 1619
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008941",
      "geneNCBI_id": 5265,
      "geneSymbol": "SERPINA1",
      "hgvs": [
        "ENST00000437397.5:c.1239G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000408474.1:p.Val413="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS294442"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1424,
          "referenceAllele": "G",
          "start": 1423
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008941",
      "geneNCBI_id": 5265,
      "geneSymbol": "SERPINA1",
      "hgvs": [
        "ENST00000440909.5:c.1239G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000390299.1:p.Val413="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS296122"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1812,
          "referenceAllele": "G",
          "start": 1811
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008941",
      "geneNCBI_id": 5265,
      "geneSymbol": "SERPINA1",
      "hgvs": [
        "ENST00000448921.5:c.1239G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000416066.1:p.Val413="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS299955"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1541,
          "referenceAllele": "G",
          "start": 1540
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008941",
      "geneNCBI_id": 5265,
      "geneSymbol": "SERPINA1",
      "hgvs": [
        "ENST00000449399.7:c.1239G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000416354.3:p.Val413="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS300207"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1468,
          "referenceAllele": "G",
          "start": 1467
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008941",
      "geneNCBI_id": 5265,
      "geneSymbol": "SERPINA1",
      "hgvs": [
        "ENST00000489769.1:c.*538G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000451525.1:n.*538G>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS327757"
    },
    {
      "@id": "http://reg.genome.network/allele/PA3081552745",
      "coordinates": [
        {
          "allele": "C",
          "end": 1500,
          "referenceAllele": "G",
          "start": 1499
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008941",
      "geneNCBI_id": 5265,
      "geneSymbol": "SERPINA1",
      "hgvs": [
        "NM_000295.4:c.1239G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_000286.3:p.Val413="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006356"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1479,
          "referenceAllele": "G",
          "start": 1478
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008941",
      "geneNCBI_id": 5265,
      "geneSymbol": "SERPINA1",
      "hgvs": [
        "NM_001002235.2:c.1239G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001002235.1:p.Val413="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS007233"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1793,
          "referenceAllele": "G",
          "start": 1792
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008941",
      "geneNCBI_id": 5265,
      "geneSymbol": "SERPINA1",
      "hgvs": [
        "NM_001002236.2:c.1239G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001002236.1:p.Val413="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS007234"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1516,
          "referenceAllele": "G",
          "start": 1515
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008941",
      "geneNCBI_id": 5265,
      "geneSymbol": "SERPINA1",
      "hgvs": [
        "NM_001127700.1:c.1239G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001121172.1:p.Val413="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS011682"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1812,
          "referenceAllele": "G",
          "start": 1811
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008941",
      "geneNCBI_id": 5265,
      "geneSymbol": "SERPINA1",
      "hgvs": [
        "NM_001127701.1:c.1239G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001121173.1:p.Val413="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS011683"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1620,
          "referenceAllele": "G",
          "start": 1619
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008941",
      "geneNCBI_id": 5265,
      "geneSymbol": "SERPINA1",
      "hgvs": [
        "NM_001127702.1:c.1239G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001121174.1:p.Val413="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS011684"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1775,
          "referenceAllele": "G",
          "start": 1774
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008941",
      "geneNCBI_id": 5265,
      "geneSymbol": "SERPINA1",
      "hgvs": [
        "NM_001127703.1:c.1239G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001121175.1:p.Val413="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS011685"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1772,
          "referenceAllele": "G",
          "start": 1771
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008941",
      "geneNCBI_id": 5265,
      "geneSymbol": "SERPINA1",
      "hgvs": [
        "NM_001127704.1:c.1239G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001121176.1:p.Val413="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS011686"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1790,
          "referenceAllele": "G",
          "start": 1789
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008941",
      "geneNCBI_id": 5265,
      "geneSymbol": "SERPINA1",
      "hgvs": [
        "NM_001127705.1:c.1239G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001121177.1:p.Val413="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS011687"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1583,
          "referenceAllele": "G",
          "start": 1582
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008941",
      "geneNCBI_id": 5265,
      "geneSymbol": "SERPINA1",
      "hgvs": [
        "NM_001127706.1:c.1239G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001121178.1:p.Val413="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS011688"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1580,
          "referenceAllele": "G",
          "start": 1579
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008941",
      "geneNCBI_id": 5265,
      "geneSymbol": "SERPINA1",
      "hgvs": [
        "NM_001127707.1:c.1239G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001121179.1:p.Val413="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS011689"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1680,
          "referenceAllele": "G",
          "start": 1679
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008941",
      "geneNCBI_id": 5265,
      "geneSymbol": "SERPINA1",
      "hgvs": [
        "XM_017021370.1:c.1239G>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_016876859.1:p.Val413="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS572590"
    },
    {
      "@id": "http://reg.genome.network/allele/PA3081552745",
      "coordinates": [
        {
          "allele": "C",
          "end": 1286,
          "referenceAllele": "G",
          "start": 1285
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008941",
      "geneNCBI_id": 5265,
      "geneSymbol": "SERPINA1",
      "hgvs": [
        "NM_000295.5:c.1239G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_000286.3:p.Val413="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS674776",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000393087.9:c.1239G>C"
          },
          "RefSeq": {
            "hgvs": "NM_000295.5:c.1239G>C"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000376802.4:p.Val413="
          },
          "RefSeq": {
            "hgvs": "NP_000286.3:p.Val413="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1422,
          "referenceAllele": "G",
          "start": 1421
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008941",
      "geneNCBI_id": 5265,
      "geneSymbol": "SERPINA1",
      "hgvs": [
        "NM_001002235.3:c.1239G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001002235.1:p.Val413="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS675068"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1736,
          "referenceAllele": "G",
          "start": 1735
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008941",
      "geneNCBI_id": 5265,
      "geneSymbol": "SERPINA1",
      "hgvs": [
        "NM_001002236.3:c.1239G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001002236.1:p.Val413="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS675069"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1459,
          "referenceAllele": "G",
          "start": 1458
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008941",
      "geneNCBI_id": 5265,
      "geneSymbol": "SERPINA1",
      "hgvs": [
        "NM_001127700.2:c.1239G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001121172.1:p.Val413="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS676934"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1755,
          "referenceAllele": "G",
          "start": 1754
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008941",
      "geneNCBI_id": 5265,
      "geneSymbol": "SERPINA1",
      "hgvs": [
        "NM_001127701.2:c.1239G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001121173.1:p.Val413="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS676935"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1563,
          "referenceAllele": "G",
          "start": 1562
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008941",
      "geneNCBI_id": 5265,
      "geneSymbol": "SERPINA1",
      "hgvs": [
        "NM_001127702.2:c.1239G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001121174.1:p.Val413="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS676936"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1718,
          "referenceAllele": "G",
          "start": 1717
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008941",
      "geneNCBI_id": 5265,
      "geneSymbol": "SERPINA1",
      "hgvs": [
        "NM_001127703.2:c.1239G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001121175.1:p.Val413="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS676937"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1715,
          "referenceAllele": "G",
          "start": 1714
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008941",
      "geneNCBI_id": 5265,
      "geneSymbol": "SERPINA1",
      "hgvs": [
        "NM_001127704.2:c.1239G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001121176.1:p.Val413="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS676938"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1733,
          "referenceAllele": "G",
          "start": 1732
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008941",
      "geneNCBI_id": 5265,
      "geneSymbol": "SERPINA1",
      "hgvs": [
        "NM_001127705.2:c.1239G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001121177.1:p.Val413="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS676939"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1526,
          "referenceAllele": "G",
          "start": 1525
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008941",
      "geneNCBI_id": 5265,
      "geneSymbol": "SERPINA1",
      "hgvs": [
        "NM_001127706.2:c.1239G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001121178.1:p.Val413="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS676940"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1523,
          "referenceAllele": "G",
          "start": 1522
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008941",
      "geneNCBI_id": 5265,
      "geneSymbol": "SERPINA1",
      "hgvs": [
        "NM_001127707.2:c.1239G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001121179.1:p.Val413="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS676941"
    }
  ],
  "type": "nucleotide"
}