{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA2155951298",
  "communityStandardTitle": [
    "NM_000295.5(SERPINA1):c.1021G= (p.Asp341=)"
  ],
  "externalRecords": {
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/28929471",
        "rs": 28929471
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "14",
      "coordinates": [
        {
          "allele": "C",
          "end": 94379508,
          "referenceAllele": "C",
          "start": 94379507
        }
      ],
      "hgvs": [
        "NC_000014.9:g.94379508C=",
        "CM000676.2:g.94379508C="
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000062"
    },
    {
      "chromosome": "14",
      "coordinates": [
        {
          "allele": "C",
          "end": 94845845,
          "referenceAllele": "C",
          "start": 94845844
        }
      ],
      "hgvs": [
        "NC_000014.8:g.94845845C=",
        "CM000676.1:g.94845845C="
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000038"
    },
    {
      "chromosome": "14",
      "coordinates": [
        {
          "allele": "C",
          "end": 93915598,
          "referenceAllele": "C",
          "start": 93915597
        }
      ],
      "hgvs": [
        "NC_000014.7:g.93915598C="
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000014"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 16185,
          "referenceAllele": "G",
          "start": 16184
        }
      ],
      "hgvs": [
        "NG_008290.1:g.16185G="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001004"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1068,
          "referenceAllele": "G",
          "start": 1067
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008941",
      "geneNCBI_id": 5265,
      "geneSymbol": "SERPINA1",
      "hgvs": [
        "ENST00000393087.9:c.1021G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000376802.4:p.Asp341="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS753093",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000393087.9:c.1021G="
          },
          "RefSeq": {
            "hgvs": "NM_000295.5:c.1021G="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000376802.4:p.Asp341="
          },
          "RefSeq": {
            "hgvs": "NP_000286.3:p.Asp341="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1173,
          "referenceAllele": "G",
          "start": 1172
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008941",
      "geneNCBI_id": 5265,
      "geneSymbol": "SERPINA1",
      "hgvs": [
        "ENST00000636712.1:c.1021G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000490054.1:p.Asp341="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS763327"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1298,
          "referenceAllele": "G",
          "start": 1297
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008941",
      "geneNCBI_id": 5265,
      "geneSymbol": "SERPINA1",
      "hgvs": [
        "ENST00000355814.8:c.1021G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000348068.4:p.Asp341="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS263559"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1286,
          "referenceAllele": "G",
          "start": 1285
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008941",
      "geneNCBI_id": 5265,
      "geneSymbol": "SERPINA1",
      "hgvs": [
        "ENST00000393087.8:c.1021G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000376802.4:p.Asp341="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS275446"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1576,
          "referenceAllele": "G",
          "start": 1575
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008941",
      "geneNCBI_id": 5265,
      "geneSymbol": "SERPINA1",
      "hgvs": [
        "ENST00000393088.8:c.1021G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000376803.4:p.Asp341="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS275447"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1055,
          "referenceAllele": "G",
          "start": 1054
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008941",
      "geneNCBI_id": 5265,
      "geneSymbol": "SERPINA1",
      "hgvs": [
        "ENST00000402629.1:c.1021G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000386094.1:p.Asp341="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS279575"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1332,
          "referenceAllele": "G",
          "start": 1331
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008941",
      "geneNCBI_id": 5265,
      "geneSymbol": "SERPINA1",
      "hgvs": [
        "ENST00000404814.8:c.1021G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000385960.4:p.Asp341="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS280169"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1402,
          "referenceAllele": "G",
          "start": 1401
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008941",
      "geneNCBI_id": 5265,
      "geneSymbol": "SERPINA1",
      "hgvs": [
        "ENST00000437397.5:c.1021G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000408474.1:p.Asp341="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS294442"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1206,
          "referenceAllele": "G",
          "start": 1205
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008941",
      "geneNCBI_id": 5265,
      "geneSymbol": "SERPINA1",
      "hgvs": [
        "ENST00000440909.5:c.1021G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000390299.1:p.Asp341="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS296122"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1594,
          "referenceAllele": "G",
          "start": 1593
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008941",
      "geneNCBI_id": 5265,
      "geneSymbol": "SERPINA1",
      "hgvs": [
        "ENST00000448921.5:c.1021G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000416066.1:p.Asp341="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS299955"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1323,
          "referenceAllele": "G",
          "start": 1322
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008941",
      "geneNCBI_id": 5265,
      "geneSymbol": "SERPINA1",
      "hgvs": [
        "ENST00000449399.7:c.1021G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000416354.3:p.Asp341="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS300207"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1250,
          "referenceAllele": "G",
          "start": 1249
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008941",
      "geneNCBI_id": 5265,
      "geneSymbol": "SERPINA1",
      "hgvs": [
        "ENST00000489769.1:c.*320G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000451525.1:n.*320G="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS327757"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825108715",
      "coordinates": [
        {
          "allele": "G",
          "end": 1282,
          "referenceAllele": "G",
          "start": 1281
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008941",
      "geneNCBI_id": 5265,
      "geneSymbol": "SERPINA1",
      "hgvs": [
        "NM_000295.4:c.1021G="
      ],
      "proteinEffect": {
        "hgvs": "NP_000286.3:p.Asp341="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006356"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825245146",
      "coordinates": [
        {
          "allele": "G",
          "end": 1261,
          "referenceAllele": "G",
          "start": 1260
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008941",
      "geneNCBI_id": 5265,
      "geneSymbol": "SERPINA1",
      "hgvs": [
        "NM_001002235.2:c.1021G="
      ],
      "proteinEffect": {
        "hgvs": "NP_001002235.1:p.Asp341="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS007233"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825245801",
      "coordinates": [
        {
          "allele": "G",
          "end": 1575,
          "referenceAllele": "G",
          "start": 1574
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008941",
      "geneNCBI_id": 5265,
      "geneSymbol": "SERPINA1",
      "hgvs": [
        "NM_001002236.2:c.1021G="
      ],
      "proteinEffect": {
        "hgvs": "NP_001002236.1:p.Asp341="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS007234"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825655740",
      "coordinates": [
        {
          "allele": "G",
          "end": 1298,
          "referenceAllele": "G",
          "start": 1297
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008941",
      "geneNCBI_id": 5265,
      "geneSymbol": "SERPINA1",
      "hgvs": [
        "NM_001127700.1:c.1021G="
      ],
      "proteinEffect": {
        "hgvs": "NP_001121172.1:p.Asp341="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS011682"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825655958",
      "coordinates": [
        {
          "allele": "G",
          "end": 1594,
          "referenceAllele": "G",
          "start": 1593
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008941",
      "geneNCBI_id": 5265,
      "geneSymbol": "SERPINA1",
      "hgvs": [
        "NM_001127701.1:c.1021G="
      ],
      "proteinEffect": {
        "hgvs": "NP_001121173.1:p.Asp341="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS011683"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825656239",
      "coordinates": [
        {
          "allele": "G",
          "end": 1402,
          "referenceAllele": "G",
          "start": 1401
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008941",
      "geneNCBI_id": 5265,
      "geneSymbol": "SERPINA1",
      "hgvs": [
        "NM_001127702.1:c.1021G="
      ],
      "proteinEffect": {
        "hgvs": "NP_001121174.1:p.Asp341="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS011684"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825656540",
      "coordinates": [
        {
          "allele": "G",
          "end": 1557,
          "referenceAllele": "G",
          "start": 1556
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008941",
      "geneNCBI_id": 5265,
      "geneSymbol": "SERPINA1",
      "hgvs": [
        "NM_001127703.1:c.1021G="
      ],
      "proteinEffect": {
        "hgvs": "NP_001121175.1:p.Asp341="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS011685"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825656841",
      "coordinates": [
        {
          "allele": "G",
          "end": 1554,
          "referenceAllele": "G",
          "start": 1553
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008941",
      "geneNCBI_id": 5265,
      "geneSymbol": "SERPINA1",
      "hgvs": [
        "NM_001127704.1:c.1021G="
      ],
      "proteinEffect": {
        "hgvs": "NP_001121176.1:p.Asp341="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS011686"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825657142",
      "coordinates": [
        {
          "allele": "G",
          "end": 1572,
          "referenceAllele": "G",
          "start": 1571
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008941",
      "geneNCBI_id": 5265,
      "geneSymbol": "SERPINA1",
      "hgvs": [
        "NM_001127705.1:c.1021G="
      ],
      "proteinEffect": {
        "hgvs": "NP_001121177.1:p.Asp341="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS011687"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825657443",
      "coordinates": [
        {
          "allele": "G",
          "end": 1365,
          "referenceAllele": "G",
          "start": 1364
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008941",
      "geneNCBI_id": 5265,
      "geneSymbol": "SERPINA1",
      "hgvs": [
        "NM_001127706.1:c.1021G="
      ],
      "proteinEffect": {
        "hgvs": "NP_001121178.1:p.Asp341="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS011688"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825657623",
      "coordinates": [
        {
          "allele": "G",
          "end": 1362,
          "referenceAllele": "G",
          "start": 1361
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008941",
      "geneNCBI_id": 5265,
      "geneSymbol": "SERPINA1",
      "hgvs": [
        "NM_001127707.1:c.1021G="
      ],
      "proteinEffect": {
        "hgvs": "NP_001121179.1:p.Asp341="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS011689"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1462,
          "referenceAllele": "G",
          "start": 1461
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008941",
      "geneNCBI_id": 5265,
      "geneSymbol": "SERPINA1",
      "hgvs": [
        "XM_017021370.1:c.1021G="
      ],
      "proteinEffect": {
        "hgvs": "XP_016876859.1:p.Asp341="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS572590"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825108715",
      "coordinates": [
        {
          "allele": "G",
          "end": 1068,
          "referenceAllele": "G",
          "start": 1067
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008941",
      "geneNCBI_id": 5265,
      "geneSymbol": "SERPINA1",
      "hgvs": [
        "NM_000295.5:c.1021G="
      ],
      "proteinEffect": {
        "hgvs": "NP_000286.3:p.Asp341="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS674776",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000393087.9:c.1021G="
          },
          "RefSeq": {
            "hgvs": "NM_000295.5:c.1021G="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000376802.4:p.Asp341="
          },
          "RefSeq": {
            "hgvs": "NP_000286.3:p.Asp341="
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825245146",
      "coordinates": [
        {
          "allele": "G",
          "end": 1204,
          "referenceAllele": "G",
          "start": 1203
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008941",
      "geneNCBI_id": 5265,
      "geneSymbol": "SERPINA1",
      "hgvs": [
        "NM_001002235.3:c.1021G="
      ],
      "proteinEffect": {
        "hgvs": "NP_001002235.1:p.Asp341="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS675068"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825245801",
      "coordinates": [
        {
          "allele": "G",
          "end": 1518,
          "referenceAllele": "G",
          "start": 1517
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008941",
      "geneNCBI_id": 5265,
      "geneSymbol": "SERPINA1",
      "hgvs": [
        "NM_001002236.3:c.1021G="
      ],
      "proteinEffect": {
        "hgvs": "NP_001002236.1:p.Asp341="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS675069"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825655740",
      "coordinates": [
        {
          "allele": "G",
          "end": 1241,
          "referenceAllele": "G",
          "start": 1240
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008941",
      "geneNCBI_id": 5265,
      "geneSymbol": "SERPINA1",
      "hgvs": [
        "NM_001127700.2:c.1021G="
      ],
      "proteinEffect": {
        "hgvs": "NP_001121172.1:p.Asp341="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS676934"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825655958",
      "coordinates": [
        {
          "allele": "G",
          "end": 1537,
          "referenceAllele": "G",
          "start": 1536
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008941",
      "geneNCBI_id": 5265,
      "geneSymbol": "SERPINA1",
      "hgvs": [
        "NM_001127701.2:c.1021G="
      ],
      "proteinEffect": {
        "hgvs": "NP_001121173.1:p.Asp341="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS676935"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825656239",
      "coordinates": [
        {
          "allele": "G",
          "end": 1345,
          "referenceAllele": "G",
          "start": 1344
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008941",
      "geneNCBI_id": 5265,
      "geneSymbol": "SERPINA1",
      "hgvs": [
        "NM_001127702.2:c.1021G="
      ],
      "proteinEffect": {
        "hgvs": "NP_001121174.1:p.Asp341="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS676936"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825656540",
      "coordinates": [
        {
          "allele": "G",
          "end": 1500,
          "referenceAllele": "G",
          "start": 1499
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008941",
      "geneNCBI_id": 5265,
      "geneSymbol": "SERPINA1",
      "hgvs": [
        "NM_001127703.2:c.1021G="
      ],
      "proteinEffect": {
        "hgvs": "NP_001121175.1:p.Asp341="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS676937"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825656841",
      "coordinates": [
        {
          "allele": "G",
          "end": 1497,
          "referenceAllele": "G",
          "start": 1496
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008941",
      "geneNCBI_id": 5265,
      "geneSymbol": "SERPINA1",
      "hgvs": [
        "NM_001127704.2:c.1021G="
      ],
      "proteinEffect": {
        "hgvs": "NP_001121176.1:p.Asp341="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS676938"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825657142",
      "coordinates": [
        {
          "allele": "G",
          "end": 1515,
          "referenceAllele": "G",
          "start": 1514
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008941",
      "geneNCBI_id": 5265,
      "geneSymbol": "SERPINA1",
      "hgvs": [
        "NM_001127705.2:c.1021G="
      ],
      "proteinEffect": {
        "hgvs": "NP_001121177.1:p.Asp341="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS676939"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825657443",
      "coordinates": [
        {
          "allele": "G",
          "end": 1308,
          "referenceAllele": "G",
          "start": 1307
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008941",
      "geneNCBI_id": 5265,
      "geneSymbol": "SERPINA1",
      "hgvs": [
        "NM_001127706.2:c.1021G="
      ],
      "proteinEffect": {
        "hgvs": "NP_001121178.1:p.Asp341="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS676940"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825657623",
      "coordinates": [
        {
          "allele": "G",
          "end": 1305,
          "referenceAllele": "G",
          "start": 1304
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008941",
      "geneNCBI_id": 5265,
      "geneSymbol": "SERPINA1",
      "hgvs": [
        "NM_001127707.2:c.1021G="
      ],
      "proteinEffect": {
        "hgvs": "NP_001121179.1:p.Asp341="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS676941"
    }
  ],
  "type": "nucleotide"
}