{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA2626279353",
  "communityStandardTitle": [
    "NM_000295.5(SERPINA1):c.*35C>A"
  ],
  "externalRecords": {
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/14-94378414-G-T?dataset=gnomad_r4",
        "id": "14-94378414-G-T",
        "variant": "14:94378414 G / T"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "14",
      "coordinates": [
        {
          "allele": "T",
          "end": 94378414,
          "referenceAllele": "G",
          "start": 94378413
        }
      ],
      "hgvs": [
        "NC_000014.9:g.94378414G>T",
        "CM000676.2:g.94378414G>T"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000062"
    },
    {
      "chromosome": "14",
      "coordinates": [
        {
          "allele": "T",
          "end": 94844751,
          "referenceAllele": "G",
          "start": 94844750
        }
      ],
      "hgvs": [
        "NC_000014.8:g.94844751G>T",
        "CM000676.1:g.94844751G>T"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000038"
    },
    {
      "chromosome": "14",
      "coordinates": [
        {
          "allele": "T",
          "end": 93914504,
          "referenceAllele": "G",
          "start": 93914503
        }
      ],
      "hgvs": [
        "NC_000014.7:g.93914504G>T"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000014"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 17279,
          "referenceAllele": "C",
          "start": 17278
        }
      ],
      "hgvs": [
        "NG_008290.1:g.17279C>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001004"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1339,
          "referenceAllele": "C",
          "start": 1338
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008941",
      "geneNCBI_id": 5265,
      "geneSymbol": "SERPINA1",
      "hgvs": [
        "ENST00000393087.9:c.*35C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000376802.4:n.*35C>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS753093",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000393087.9:c.*35C>A"
          },
          "RefSeq": {
            "hgvs": "NM_000295.5:c.*35C>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000376802.4:n.*35C>A"
          },
          "RefSeq": {
            "hgvs": "NP_000286.3:n.*35C>A"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1444,
          "referenceAllele": "C",
          "start": 1443
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008941",
      "geneNCBI_id": 5265,
      "geneSymbol": "SERPINA1",
      "hgvs": [
        "ENST00000636712.1:c.*35C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000490054.1:n.*35C>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS763327"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1569,
          "referenceAllele": "C",
          "start": 1568
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008941",
      "geneNCBI_id": 5265,
      "geneSymbol": "SERPINA1",
      "hgvs": [
        "ENST00000355814.8:c.*35C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000348068.4:n.*35C>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS263559"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1557,
          "referenceAllele": "C",
          "start": 1556
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008941",
      "geneNCBI_id": 5265,
      "geneSymbol": "SERPINA1",
      "hgvs": [
        "ENST00000393087.8:c.*35C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000376802.4:n.*35C>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS275446"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1847,
          "referenceAllele": "C",
          "start": 1846
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008941",
      "geneNCBI_id": 5265,
      "geneSymbol": "SERPINA1",
      "hgvs": [
        "ENST00000393088.8:c.*35C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000376803.4:n.*35C>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS275447"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1603,
          "referenceAllele": "C",
          "start": 1602
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008941",
      "geneNCBI_id": 5265,
      "geneSymbol": "SERPINA1",
      "hgvs": [
        "ENST00000404814.8:c.*35C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000385960.4:n.*35C>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS280169"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1673,
          "referenceAllele": "C",
          "start": 1672
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008941",
      "geneNCBI_id": 5265,
      "geneSymbol": "SERPINA1",
      "hgvs": [
        "ENST00000437397.5:c.*35C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000408474.1:n.*35C>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS294442"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1477,
          "referenceAllele": "C",
          "start": 1476
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008941",
      "geneNCBI_id": 5265,
      "geneSymbol": "SERPINA1",
      "hgvs": [
        "ENST00000440909.5:c.*35C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000390299.1:n.*35C>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS296122"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1865,
          "referenceAllele": "C",
          "start": 1864
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008941",
      "geneNCBI_id": 5265,
      "geneSymbol": "SERPINA1",
      "hgvs": [
        "ENST00000448921.5:c.*35C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000416066.1:n.*35C>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS299955"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1521,
          "referenceAllele": "C",
          "start": 1520
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008941",
      "geneNCBI_id": 5265,
      "geneSymbol": "SERPINA1",
      "hgvs": [
        "ENST00000489769.1:c.*591C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000451525.1:n.*591C>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS327757"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1553,
          "referenceAllele": "C",
          "start": 1552
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008941",
      "geneNCBI_id": 5265,
      "geneSymbol": "SERPINA1",
      "hgvs": [
        "NM_000295.4:c.*35C>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_000286.3:n.*35C>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006356"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1532,
          "referenceAllele": "C",
          "start": 1531
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008941",
      "geneNCBI_id": 5265,
      "geneSymbol": "SERPINA1",
      "hgvs": [
        "NM_001002235.2:c.*35C>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001002235.1:n.*35C>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS007233"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1846,
          "referenceAllele": "C",
          "start": 1845
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008941",
      "geneNCBI_id": 5265,
      "geneSymbol": "SERPINA1",
      "hgvs": [
        "NM_001002236.2:c.*35C>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001002236.1:n.*35C>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS007234"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1569,
          "referenceAllele": "C",
          "start": 1568
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008941",
      "geneNCBI_id": 5265,
      "geneSymbol": "SERPINA1",
      "hgvs": [
        "NM_001127700.1:c.*35C>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001121172.1:n.*35C>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS011682"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1865,
          "referenceAllele": "C",
          "start": 1864
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008941",
      "geneNCBI_id": 5265,
      "geneSymbol": "SERPINA1",
      "hgvs": [
        "NM_001127701.1:c.*35C>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001121173.1:n.*35C>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS011683"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1673,
          "referenceAllele": "C",
          "start": 1672
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008941",
      "geneNCBI_id": 5265,
      "geneSymbol": "SERPINA1",
      "hgvs": [
        "NM_001127702.1:c.*35C>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001121174.1:n.*35C>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS011684"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1828,
          "referenceAllele": "C",
          "start": 1827
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008941",
      "geneNCBI_id": 5265,
      "geneSymbol": "SERPINA1",
      "hgvs": [
        "NM_001127703.1:c.*35C>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001121175.1:n.*35C>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS011685"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1825,
          "referenceAllele": "C",
          "start": 1824
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008941",
      "geneNCBI_id": 5265,
      "geneSymbol": "SERPINA1",
      "hgvs": [
        "NM_001127704.1:c.*35C>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001121176.1:n.*35C>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS011686"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1843,
          "referenceAllele": "C",
          "start": 1842
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008941",
      "geneNCBI_id": 5265,
      "geneSymbol": "SERPINA1",
      "hgvs": [
        "NM_001127705.1:c.*35C>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001121177.1:n.*35C>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS011687"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1636,
          "referenceAllele": "C",
          "start": 1635
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008941",
      "geneNCBI_id": 5265,
      "geneSymbol": "SERPINA1",
      "hgvs": [
        "NM_001127706.1:c.*35C>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001121178.1:n.*35C>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS011688"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1633,
          "referenceAllele": "C",
          "start": 1632
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008941",
      "geneNCBI_id": 5265,
      "geneSymbol": "SERPINA1",
      "hgvs": [
        "NM_001127707.1:c.*35C>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001121179.1:n.*35C>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS011689"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1733,
          "referenceAllele": "C",
          "start": 1732
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008941",
      "geneNCBI_id": 5265,
      "geneSymbol": "SERPINA1",
      "hgvs": [
        "XM_017021370.1:c.*35C>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_016876859.1:n.*35C>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS572590"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1339,
          "referenceAllele": "C",
          "start": 1338
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008941",
      "geneNCBI_id": 5265,
      "geneSymbol": "SERPINA1",
      "hgvs": [
        "NM_000295.5:c.*35C>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_000286.3:n.*35C>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS674776",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000393087.9:c.*35C>A"
          },
          "RefSeq": {
            "hgvs": "NM_000295.5:c.*35C>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000376802.4:n.*35C>A"
          },
          "RefSeq": {
            "hgvs": "NP_000286.3:n.*35C>A"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1475,
          "referenceAllele": "C",
          "start": 1474
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008941",
      "geneNCBI_id": 5265,
      "geneSymbol": "SERPINA1",
      "hgvs": [
        "NM_001002235.3:c.*35C>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001002235.1:n.*35C>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS675068"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1789,
          "referenceAllele": "C",
          "start": 1788
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008941",
      "geneNCBI_id": 5265,
      "geneSymbol": "SERPINA1",
      "hgvs": [
        "NM_001002236.3:c.*35C>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001002236.1:n.*35C>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS675069"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1512,
          "referenceAllele": "C",
          "start": 1511
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008941",
      "geneNCBI_id": 5265,
      "geneSymbol": "SERPINA1",
      "hgvs": [
        "NM_001127700.2:c.*35C>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001121172.1:n.*35C>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS676934"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1808,
          "referenceAllele": "C",
          "start": 1807
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008941",
      "geneNCBI_id": 5265,
      "geneSymbol": "SERPINA1",
      "hgvs": [
        "NM_001127701.2:c.*35C>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001121173.1:n.*35C>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS676935"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1616,
          "referenceAllele": "C",
          "start": 1615
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008941",
      "geneNCBI_id": 5265,
      "geneSymbol": "SERPINA1",
      "hgvs": [
        "NM_001127702.2:c.*35C>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001121174.1:n.*35C>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS676936"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1771,
          "referenceAllele": "C",
          "start": 1770
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008941",
      "geneNCBI_id": 5265,
      "geneSymbol": "SERPINA1",
      "hgvs": [
        "NM_001127703.2:c.*35C>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001121175.1:n.*35C>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS676937"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1768,
          "referenceAllele": "C",
          "start": 1767
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008941",
      "geneNCBI_id": 5265,
      "geneSymbol": "SERPINA1",
      "hgvs": [
        "NM_001127704.2:c.*35C>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001121176.1:n.*35C>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS676938"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1786,
          "referenceAllele": "C",
          "start": 1785
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008941",
      "geneNCBI_id": 5265,
      "geneSymbol": "SERPINA1",
      "hgvs": [
        "NM_001127705.2:c.*35C>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001121177.1:n.*35C>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS676939"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1579,
          "referenceAllele": "C",
          "start": 1578
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008941",
      "geneNCBI_id": 5265,
      "geneSymbol": "SERPINA1",
      "hgvs": [
        "NM_001127706.2:c.*35C>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001121178.1:n.*35C>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS676940"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1576,
          "referenceAllele": "C",
          "start": 1575
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008941",
      "geneNCBI_id": 5265,
      "geneSymbol": "SERPINA1",
      "hgvs": [
        "NM_001127707.2:c.*35C>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001121179.1:n.*35C>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS676941"
    }
  ],
  "type": "nucleotide"
}