{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA2626279116",
  "communityStandardTitle": [
    "NM_000295.5(SERPINA1):c.*204A>G"
  ],
  "externalRecords": {
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/14-94378245-T-C?dataset=gnomad_r4",
        "id": "14-94378245-T-C",
        "variant": "14:94378245 T / C"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "14",
      "coordinates": [
        {
          "allele": "C",
          "end": 94378245,
          "referenceAllele": "T",
          "start": 94378244
        }
      ],
      "hgvs": [
        "NC_000014.9:g.94378245T>C",
        "CM000676.2:g.94378245T>C"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000062"
    },
    {
      "chromosome": "14",
      "coordinates": [
        {
          "allele": "C",
          "end": 94844582,
          "referenceAllele": "T",
          "start": 94844581
        }
      ],
      "hgvs": [
        "NC_000014.8:g.94844582T>C",
        "CM000676.1:g.94844582T>C"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000038"
    },
    {
      "chromosome": "14",
      "coordinates": [
        {
          "allele": "C",
          "end": 93914335,
          "referenceAllele": "T",
          "start": 93914334
        }
      ],
      "hgvs": [
        "NC_000014.7:g.93914335T>C"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000014"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 17448,
          "referenceAllele": "A",
          "start": 17447
        }
      ],
      "hgvs": [
        "NG_008290.1:g.17448A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001004"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1508,
          "referenceAllele": "A",
          "start": 1507
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008941",
      "geneNCBI_id": 5265,
      "geneSymbol": "SERPINA1",
      "hgvs": [
        "ENST00000393087.9:c.*204A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000376802.4:n.*204A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS753093",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000393087.9:c.*204A>G"
          },
          "RefSeq": {
            "hgvs": "NM_000295.5:c.*204A>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000376802.4:n.*204A>G"
          },
          "RefSeq": {
            "hgvs": "NP_000286.3:n.*204A>G"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1738,
          "referenceAllele": "A",
          "start": 1737
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008941",
      "geneNCBI_id": 5265,
      "geneSymbol": "SERPINA1",
      "hgvs": [
        "ENST00000355814.8:c.*204A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000348068.4:n.*204A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS263559"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1842,
          "referenceAllele": "A",
          "start": 1841
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008941",
      "geneNCBI_id": 5265,
      "geneSymbol": "SERPINA1",
      "hgvs": [
        "ENST00000437397.5:c.*204A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000408474.1:n.*204A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS294442"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1646,
          "referenceAllele": "A",
          "start": 1645
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008941",
      "geneNCBI_id": 5265,
      "geneSymbol": "SERPINA1",
      "hgvs": [
        "ENST00000440909.5:c.*204A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000390299.1:n.*204A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS296122"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2034,
          "referenceAllele": "A",
          "start": 2033
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008941",
      "geneNCBI_id": 5265,
      "geneSymbol": "SERPINA1",
      "hgvs": [
        "ENST00000448921.5:c.*204A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000416066.1:n.*204A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS299955"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1722,
          "referenceAllele": "A",
          "start": 1721
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008941",
      "geneNCBI_id": 5265,
      "geneSymbol": "SERPINA1",
      "hgvs": [
        "NM_000295.4:c.*204A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_000286.3:n.*204A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006356"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1701,
          "referenceAllele": "A",
          "start": 1700
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008941",
      "geneNCBI_id": 5265,
      "geneSymbol": "SERPINA1",
      "hgvs": [
        "NM_001002235.2:c.*204A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001002235.1:n.*204A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS007233"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2015,
          "referenceAllele": "A",
          "start": 2014
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008941",
      "geneNCBI_id": 5265,
      "geneSymbol": "SERPINA1",
      "hgvs": [
        "NM_001002236.2:c.*204A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001002236.1:n.*204A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS007234"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1738,
          "referenceAllele": "A",
          "start": 1737
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008941",
      "geneNCBI_id": 5265,
      "geneSymbol": "SERPINA1",
      "hgvs": [
        "NM_001127700.1:c.*204A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001121172.1:n.*204A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS011682"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2034,
          "referenceAllele": "A",
          "start": 2033
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008941",
      "geneNCBI_id": 5265,
      "geneSymbol": "SERPINA1",
      "hgvs": [
        "NM_001127701.1:c.*204A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001121173.1:n.*204A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS011683"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1842,
          "referenceAllele": "A",
          "start": 1841
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008941",
      "geneNCBI_id": 5265,
      "geneSymbol": "SERPINA1",
      "hgvs": [
        "NM_001127702.1:c.*204A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001121174.1:n.*204A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS011684"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1997,
          "referenceAllele": "A",
          "start": 1996
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008941",
      "geneNCBI_id": 5265,
      "geneSymbol": "SERPINA1",
      "hgvs": [
        "NM_001127703.1:c.*204A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001121175.1:n.*204A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS011685"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1994,
          "referenceAllele": "A",
          "start": 1993
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008941",
      "geneNCBI_id": 5265,
      "geneSymbol": "SERPINA1",
      "hgvs": [
        "NM_001127704.1:c.*204A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001121176.1:n.*204A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS011686"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2012,
          "referenceAllele": "A",
          "start": 2011
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008941",
      "geneNCBI_id": 5265,
      "geneSymbol": "SERPINA1",
      "hgvs": [
        "NM_001127705.1:c.*204A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001121177.1:n.*204A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS011687"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1805,
          "referenceAllele": "A",
          "start": 1804
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008941",
      "geneNCBI_id": 5265,
      "geneSymbol": "SERPINA1",
      "hgvs": [
        "NM_001127706.1:c.*204A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001121178.1:n.*204A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS011688"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1802,
          "referenceAllele": "A",
          "start": 1801
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008941",
      "geneNCBI_id": 5265,
      "geneSymbol": "SERPINA1",
      "hgvs": [
        "NM_001127707.1:c.*204A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001121179.1:n.*204A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS011689"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1508,
          "referenceAllele": "A",
          "start": 1507
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008941",
      "geneNCBI_id": 5265,
      "geneSymbol": "SERPINA1",
      "hgvs": [
        "NM_000295.5:c.*204A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_000286.3:n.*204A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS674776",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000393087.9:c.*204A>G"
          },
          "RefSeq": {
            "hgvs": "NM_000295.5:c.*204A>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000376802.4:n.*204A>G"
          },
          "RefSeq": {
            "hgvs": "NP_000286.3:n.*204A>G"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1644,
          "referenceAllele": "A",
          "start": 1643
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008941",
      "geneNCBI_id": 5265,
      "geneSymbol": "SERPINA1",
      "hgvs": [
        "NM_001002235.3:c.*204A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001002235.1:n.*204A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS675068"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1958,
          "referenceAllele": "A",
          "start": 1957
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008941",
      "geneNCBI_id": 5265,
      "geneSymbol": "SERPINA1",
      "hgvs": [
        "NM_001002236.3:c.*204A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001002236.1:n.*204A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS675069"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1681,
          "referenceAllele": "A",
          "start": 1680
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008941",
      "geneNCBI_id": 5265,
      "geneSymbol": "SERPINA1",
      "hgvs": [
        "NM_001127700.2:c.*204A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001121172.1:n.*204A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS676934"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1977,
          "referenceAllele": "A",
          "start": 1976
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008941",
      "geneNCBI_id": 5265,
      "geneSymbol": "SERPINA1",
      "hgvs": [
        "NM_001127701.2:c.*204A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001121173.1:n.*204A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS676935"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1785,
          "referenceAllele": "A",
          "start": 1784
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008941",
      "geneNCBI_id": 5265,
      "geneSymbol": "SERPINA1",
      "hgvs": [
        "NM_001127702.2:c.*204A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001121174.1:n.*204A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS676936"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1940,
          "referenceAllele": "A",
          "start": 1939
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008941",
      "geneNCBI_id": 5265,
      "geneSymbol": "SERPINA1",
      "hgvs": [
        "NM_001127703.2:c.*204A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001121175.1:n.*204A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS676937"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1937,
          "referenceAllele": "A",
          "start": 1936
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008941",
      "geneNCBI_id": 5265,
      "geneSymbol": "SERPINA1",
      "hgvs": [
        "NM_001127704.2:c.*204A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001121176.1:n.*204A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS676938"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1955,
          "referenceAllele": "A",
          "start": 1954
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008941",
      "geneNCBI_id": 5265,
      "geneSymbol": "SERPINA1",
      "hgvs": [
        "NM_001127705.2:c.*204A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001121177.1:n.*204A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS676939"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1748,
          "referenceAllele": "A",
          "start": 1747
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008941",
      "geneNCBI_id": 5265,
      "geneSymbol": "SERPINA1",
      "hgvs": [
        "NM_001127706.2:c.*204A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001121178.1:n.*204A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS676940"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1745,
          "referenceAllele": "A",
          "start": 1744
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008941",
      "geneNCBI_id": 5265,
      "geneSymbol": "SERPINA1",
      "hgvs": [
        "NM_001127707.2:c.*204A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001121179.1:n.*204A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS676941"
    }
  ],
  "type": "nucleotide"
}