{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA710092976",
  "communityStandardTitle": [
    "NM_000295.5(SERPINA1):c.*332A>C"
  ],
  "externalRecords": {
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr14:g.94844454T>G?assembly=hg19",
        "id": "chr14:g.94844454T>G"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr14:g.94378117T>G?assembly=hg38",
        "id": "chr14:g.94378117T>G"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/1467385899",
        "rs": 1467385899
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/14-94378117-T-G?dataset=gnomad_r3",
        "id": "14-94378117-T-G",
        "variant": "14:94378117 T / G"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/14-94378117-T-G?dataset=gnomad_r4",
        "id": "14-94378117-T-G",
        "variant": "14:94378117 T / G"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "14",
      "coordinates": [
        {
          "allele": "G",
          "end": 94378117,
          "referenceAllele": "T",
          "start": 94378116
        }
      ],
      "hgvs": [
        "NC_000014.9:g.94378117T>G",
        "CM000676.2:g.94378117T>G"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000062"
    },
    {
      "chromosome": "14",
      "coordinates": [
        {
          "allele": "G",
          "end": 94844454,
          "referenceAllele": "T",
          "start": 94844453
        }
      ],
      "hgvs": [
        "NC_000014.8:g.94844454T>G",
        "CM000676.1:g.94844454T>G"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000038"
    },
    {
      "chromosome": "14",
      "coordinates": [
        {
          "allele": "G",
          "end": 93914207,
          "referenceAllele": "T",
          "start": 93914206
        }
      ],
      "hgvs": [
        "NC_000014.7:g.93914207T>G"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000014"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 17576,
          "referenceAllele": "A",
          "start": 17575
        }
      ],
      "hgvs": [
        "NG_008290.1:g.17576A>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001004"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1636,
          "referenceAllele": "A",
          "start": 1635
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008941",
      "geneNCBI_id": 5265,
      "geneSymbol": "SERPINA1",
      "hgvs": [
        "ENST00000393087.9:c.*332A>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000376802.4:n.*332A>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS753093",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000393087.9:c.*332A>C"
          },
          "RefSeq": {
            "hgvs": "NM_000295.5:c.*332A>C"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000376802.4:n.*332A>C"
          },
          "RefSeq": {
            "hgvs": "NP_000286.3:n.*332A>C"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1866,
          "referenceAllele": "A",
          "start": 1865
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008941",
      "geneNCBI_id": 5265,
      "geneSymbol": "SERPINA1",
      "hgvs": [
        "ENST00000355814.8:c.*332A>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000348068.4:n.*332A>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS263559"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1970,
          "referenceAllele": "A",
          "start": 1969
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008941",
      "geneNCBI_id": 5265,
      "geneSymbol": "SERPINA1",
      "hgvs": [
        "ENST00000437397.5:c.*332A>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000408474.1:n.*332A>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS294442"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1774,
          "referenceAllele": "A",
          "start": 1773
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008941",
      "geneNCBI_id": 5265,
      "geneSymbol": "SERPINA1",
      "hgvs": [
        "ENST00000440909.5:c.*332A>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000390299.1:n.*332A>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS296122"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2162,
          "referenceAllele": "A",
          "start": 2161
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008941",
      "geneNCBI_id": 5265,
      "geneSymbol": "SERPINA1",
      "hgvs": [
        "ENST00000448921.5:c.*332A>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000416066.1:n.*332A>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS299955"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1850,
          "referenceAllele": "A",
          "start": 1849
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008941",
      "geneNCBI_id": 5265,
      "geneSymbol": "SERPINA1",
      "hgvs": [
        "NM_000295.4:c.*332A>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_000286.3:n.*332A>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006356"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1829,
          "referenceAllele": "A",
          "start": 1828
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008941",
      "geneNCBI_id": 5265,
      "geneSymbol": "SERPINA1",
      "hgvs": [
        "NM_001002235.2:c.*332A>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001002235.1:n.*332A>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS007233"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2143,
          "referenceAllele": "A",
          "start": 2142
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008941",
      "geneNCBI_id": 5265,
      "geneSymbol": "SERPINA1",
      "hgvs": [
        "NM_001002236.2:c.*332A>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001002236.1:n.*332A>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS007234"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1866,
          "referenceAllele": "A",
          "start": 1865
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008941",
      "geneNCBI_id": 5265,
      "geneSymbol": "SERPINA1",
      "hgvs": [
        "NM_001127700.1:c.*332A>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001121172.1:n.*332A>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS011682"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2162,
          "referenceAllele": "A",
          "start": 2161
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008941",
      "geneNCBI_id": 5265,
      "geneSymbol": "SERPINA1",
      "hgvs": [
        "NM_001127701.1:c.*332A>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001121173.1:n.*332A>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS011683"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1970,
          "referenceAllele": "A",
          "start": 1969
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008941",
      "geneNCBI_id": 5265,
      "geneSymbol": "SERPINA1",
      "hgvs": [
        "NM_001127702.1:c.*332A>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001121174.1:n.*332A>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS011684"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2125,
          "referenceAllele": "A",
          "start": 2124
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008941",
      "geneNCBI_id": 5265,
      "geneSymbol": "SERPINA1",
      "hgvs": [
        "NM_001127703.1:c.*332A>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001121175.1:n.*332A>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS011685"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2122,
          "referenceAllele": "A",
          "start": 2121
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008941",
      "geneNCBI_id": 5265,
      "geneSymbol": "SERPINA1",
      "hgvs": [
        "NM_001127704.1:c.*332A>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001121176.1:n.*332A>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS011686"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2140,
          "referenceAllele": "A",
          "start": 2139
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008941",
      "geneNCBI_id": 5265,
      "geneSymbol": "SERPINA1",
      "hgvs": [
        "NM_001127705.1:c.*332A>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001121177.1:n.*332A>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS011687"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1933,
          "referenceAllele": "A",
          "start": 1932
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008941",
      "geneNCBI_id": 5265,
      "geneSymbol": "SERPINA1",
      "hgvs": [
        "NM_001127706.1:c.*332A>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001121178.1:n.*332A>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS011688"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1930,
          "referenceAllele": "A",
          "start": 1929
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008941",
      "geneNCBI_id": 5265,
      "geneSymbol": "SERPINA1",
      "hgvs": [
        "NM_001127707.1:c.*332A>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001121179.1:n.*332A>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS011689"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1636,
          "referenceAllele": "A",
          "start": 1635
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008941",
      "geneNCBI_id": 5265,
      "geneSymbol": "SERPINA1",
      "hgvs": [
        "NM_000295.5:c.*332A>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_000286.3:n.*332A>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS674776",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000393087.9:c.*332A>C"
          },
          "RefSeq": {
            "hgvs": "NM_000295.5:c.*332A>C"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000376802.4:n.*332A>C"
          },
          "RefSeq": {
            "hgvs": "NP_000286.3:n.*332A>C"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1772,
          "referenceAllele": "A",
          "start": 1771
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008941",
      "geneNCBI_id": 5265,
      "geneSymbol": "SERPINA1",
      "hgvs": [
        "NM_001002235.3:c.*332A>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001002235.1:n.*332A>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS675068"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2086,
          "referenceAllele": "A",
          "start": 2085
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008941",
      "geneNCBI_id": 5265,
      "geneSymbol": "SERPINA1",
      "hgvs": [
        "NM_001002236.3:c.*332A>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001002236.1:n.*332A>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS675069"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1809,
          "referenceAllele": "A",
          "start": 1808
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008941",
      "geneNCBI_id": 5265,
      "geneSymbol": "SERPINA1",
      "hgvs": [
        "NM_001127700.2:c.*332A>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001121172.1:n.*332A>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS676934"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2105,
          "referenceAllele": "A",
          "start": 2104
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008941",
      "geneNCBI_id": 5265,
      "geneSymbol": "SERPINA1",
      "hgvs": [
        "NM_001127701.2:c.*332A>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001121173.1:n.*332A>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS676935"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1913,
          "referenceAllele": "A",
          "start": 1912
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008941",
      "geneNCBI_id": 5265,
      "geneSymbol": "SERPINA1",
      "hgvs": [
        "NM_001127702.2:c.*332A>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001121174.1:n.*332A>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS676936"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2068,
          "referenceAllele": "A",
          "start": 2067
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008941",
      "geneNCBI_id": 5265,
      "geneSymbol": "SERPINA1",
      "hgvs": [
        "NM_001127703.2:c.*332A>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001121175.1:n.*332A>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS676937"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2065,
          "referenceAllele": "A",
          "start": 2064
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008941",
      "geneNCBI_id": 5265,
      "geneSymbol": "SERPINA1",
      "hgvs": [
        "NM_001127704.2:c.*332A>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001121176.1:n.*332A>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS676938"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2083,
          "referenceAllele": "A",
          "start": 2082
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008941",
      "geneNCBI_id": 5265,
      "geneSymbol": "SERPINA1",
      "hgvs": [
        "NM_001127705.2:c.*332A>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001121177.1:n.*332A>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS676939"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1876,
          "referenceAllele": "A",
          "start": 1875
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008941",
      "geneNCBI_id": 5265,
      "geneSymbol": "SERPINA1",
      "hgvs": [
        "NM_001127706.2:c.*332A>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001121178.1:n.*332A>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS676940"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1873,
          "referenceAllele": "A",
          "start": 1872
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008941",
      "geneNCBI_id": 5265,
      "geneSymbol": "SERPINA1",
      "hgvs": [
        "NM_001127707.2:c.*332A>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001121179.1:n.*332A>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS676941"
    }
  ],
  "type": "nucleotide"
}