{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA2626279290",
  "communityStandardTitle": [
    "NM_000295.5(SERPINA1):c.*103C>A"
  ],
  "externalRecords": {
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/14-94378346-G-T?dataset=gnomad_r4",
        "id": "14-94378346-G-T",
        "variant": "14:94378346 G / T"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "14",
      "coordinates": [
        {
          "allele": "T",
          "end": 94378346,
          "referenceAllele": "G",
          "start": 94378345
        }
      ],
      "hgvs": [
        "NC_000014.9:g.94378346G>T",
        "CM000676.2:g.94378346G>T"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000062"
    },
    {
      "chromosome": "14",
      "coordinates": [
        {
          "allele": "T",
          "end": 94844683,
          "referenceAllele": "G",
          "start": 94844682
        }
      ],
      "hgvs": [
        "NC_000014.8:g.94844683G>T",
        "CM000676.1:g.94844683G>T"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000038"
    },
    {
      "chromosome": "14",
      "coordinates": [
        {
          "allele": "T",
          "end": 93914436,
          "referenceAllele": "G",
          "start": 93914435
        }
      ],
      "hgvs": [
        "NC_000014.7:g.93914436G>T"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000014"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 17347,
          "referenceAllele": "C",
          "start": 17346
        }
      ],
      "hgvs": [
        "NG_008290.1:g.17347C>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001004"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1407,
          "referenceAllele": "C",
          "start": 1406
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008941",
      "geneNCBI_id": 5265,
      "geneSymbol": "SERPINA1",
      "hgvs": [
        "ENST00000393087.9:c.*103C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000376802.4:n.*103C>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS753093",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000393087.9:c.*103C>A"
          },
          "RefSeq": {
            "hgvs": "NM_000295.5:c.*103C>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000376802.4:n.*103C>A"
          },
          "RefSeq": {
            "hgvs": "NP_000286.3:n.*103C>A"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1637,
          "referenceAllele": "C",
          "start": 1636
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008941",
      "geneNCBI_id": 5265,
      "geneSymbol": "SERPINA1",
      "hgvs": [
        "ENST00000355814.8:c.*103C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000348068.4:n.*103C>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS263559"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1741,
          "referenceAllele": "C",
          "start": 1740
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008941",
      "geneNCBI_id": 5265,
      "geneSymbol": "SERPINA1",
      "hgvs": [
        "ENST00000437397.5:c.*103C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000408474.1:n.*103C>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS294442"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1545,
          "referenceAllele": "C",
          "start": 1544
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008941",
      "geneNCBI_id": 5265,
      "geneSymbol": "SERPINA1",
      "hgvs": [
        "ENST00000440909.5:c.*103C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000390299.1:n.*103C>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS296122"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1933,
          "referenceAllele": "C",
          "start": 1932
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008941",
      "geneNCBI_id": 5265,
      "geneSymbol": "SERPINA1",
      "hgvs": [
        "ENST00000448921.5:c.*103C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000416066.1:n.*103C>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS299955"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1621,
          "referenceAllele": "C",
          "start": 1620
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008941",
      "geneNCBI_id": 5265,
      "geneSymbol": "SERPINA1",
      "hgvs": [
        "NM_000295.4:c.*103C>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_000286.3:n.*103C>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006356"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1600,
          "referenceAllele": "C",
          "start": 1599
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008941",
      "geneNCBI_id": 5265,
      "geneSymbol": "SERPINA1",
      "hgvs": [
        "NM_001002235.2:c.*103C>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001002235.1:n.*103C>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS007233"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1914,
          "referenceAllele": "C",
          "start": 1913
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008941",
      "geneNCBI_id": 5265,
      "geneSymbol": "SERPINA1",
      "hgvs": [
        "NM_001002236.2:c.*103C>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001002236.1:n.*103C>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS007234"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1637,
          "referenceAllele": "C",
          "start": 1636
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008941",
      "geneNCBI_id": 5265,
      "geneSymbol": "SERPINA1",
      "hgvs": [
        "NM_001127700.1:c.*103C>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001121172.1:n.*103C>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS011682"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1933,
          "referenceAllele": "C",
          "start": 1932
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008941",
      "geneNCBI_id": 5265,
      "geneSymbol": "SERPINA1",
      "hgvs": [
        "NM_001127701.1:c.*103C>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001121173.1:n.*103C>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS011683"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1741,
          "referenceAllele": "C",
          "start": 1740
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008941",
      "geneNCBI_id": 5265,
      "geneSymbol": "SERPINA1",
      "hgvs": [
        "NM_001127702.1:c.*103C>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001121174.1:n.*103C>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS011684"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1896,
          "referenceAllele": "C",
          "start": 1895
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008941",
      "geneNCBI_id": 5265,
      "geneSymbol": "SERPINA1",
      "hgvs": [
        "NM_001127703.1:c.*103C>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001121175.1:n.*103C>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS011685"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1893,
          "referenceAllele": "C",
          "start": 1892
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008941",
      "geneNCBI_id": 5265,
      "geneSymbol": "SERPINA1",
      "hgvs": [
        "NM_001127704.1:c.*103C>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001121176.1:n.*103C>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS011686"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1911,
          "referenceAllele": "C",
          "start": 1910
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008941",
      "geneNCBI_id": 5265,
      "geneSymbol": "SERPINA1",
      "hgvs": [
        "NM_001127705.1:c.*103C>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001121177.1:n.*103C>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS011687"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1704,
          "referenceAllele": "C",
          "start": 1703
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008941",
      "geneNCBI_id": 5265,
      "geneSymbol": "SERPINA1",
      "hgvs": [
        "NM_001127706.1:c.*103C>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001121178.1:n.*103C>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS011688"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1701,
          "referenceAllele": "C",
          "start": 1700
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008941",
      "geneNCBI_id": 5265,
      "geneSymbol": "SERPINA1",
      "hgvs": [
        "NM_001127707.1:c.*103C>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001121179.1:n.*103C>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS011689"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1407,
          "referenceAllele": "C",
          "start": 1406
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008941",
      "geneNCBI_id": 5265,
      "geneSymbol": "SERPINA1",
      "hgvs": [
        "NM_000295.5:c.*103C>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_000286.3:n.*103C>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS674776",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000393087.9:c.*103C>A"
          },
          "RefSeq": {
            "hgvs": "NM_000295.5:c.*103C>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000376802.4:n.*103C>A"
          },
          "RefSeq": {
            "hgvs": "NP_000286.3:n.*103C>A"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1543,
          "referenceAllele": "C",
          "start": 1542
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008941",
      "geneNCBI_id": 5265,
      "geneSymbol": "SERPINA1",
      "hgvs": [
        "NM_001002235.3:c.*103C>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001002235.1:n.*103C>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS675068"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1857,
          "referenceAllele": "C",
          "start": 1856
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008941",
      "geneNCBI_id": 5265,
      "geneSymbol": "SERPINA1",
      "hgvs": [
        "NM_001002236.3:c.*103C>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001002236.1:n.*103C>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS675069"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1580,
          "referenceAllele": "C",
          "start": 1579
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008941",
      "geneNCBI_id": 5265,
      "geneSymbol": "SERPINA1",
      "hgvs": [
        "NM_001127700.2:c.*103C>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001121172.1:n.*103C>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS676934"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1876,
          "referenceAllele": "C",
          "start": 1875
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008941",
      "geneNCBI_id": 5265,
      "geneSymbol": "SERPINA1",
      "hgvs": [
        "NM_001127701.2:c.*103C>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001121173.1:n.*103C>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS676935"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1684,
          "referenceAllele": "C",
          "start": 1683
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008941",
      "geneNCBI_id": 5265,
      "geneSymbol": "SERPINA1",
      "hgvs": [
        "NM_001127702.2:c.*103C>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001121174.1:n.*103C>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS676936"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1839,
          "referenceAllele": "C",
          "start": 1838
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008941",
      "geneNCBI_id": 5265,
      "geneSymbol": "SERPINA1",
      "hgvs": [
        "NM_001127703.2:c.*103C>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001121175.1:n.*103C>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS676937"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1836,
          "referenceAllele": "C",
          "start": 1835
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008941",
      "geneNCBI_id": 5265,
      "geneSymbol": "SERPINA1",
      "hgvs": [
        "NM_001127704.2:c.*103C>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001121176.1:n.*103C>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS676938"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1854,
          "referenceAllele": "C",
          "start": 1853
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008941",
      "geneNCBI_id": 5265,
      "geneSymbol": "SERPINA1",
      "hgvs": [
        "NM_001127705.2:c.*103C>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001121177.1:n.*103C>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS676939"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1647,
          "referenceAllele": "C",
          "start": 1646
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008941",
      "geneNCBI_id": 5265,
      "geneSymbol": "SERPINA1",
      "hgvs": [
        "NM_001127706.2:c.*103C>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001121178.1:n.*103C>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS676940"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1644,
          "referenceAllele": "C",
          "start": 1643
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008941",
      "geneNCBI_id": 5265,
      "geneSymbol": "SERPINA1",
      "hgvs": [
        "NM_001127707.2:c.*103C>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001121179.1:n.*103C>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS676941"
    }
  ],
  "type": "nucleotide"
}