{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA2155953229",
  "communityStandardTitle": [
    "NM_000295.5(SERPINA1):c.*229G="
  ],
  "externalRecords": {
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/1302529376",
        "rs": 1302529376
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "14",
      "coordinates": [
        {
          "allele": "C",
          "end": 94378220,
          "referenceAllele": "C",
          "start": 94378219
        }
      ],
      "hgvs": [
        "NC_000014.9:g.94378220C=",
        "CM000676.2:g.94378220C="
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000062"
    },
    {
      "chromosome": "14",
      "coordinates": [
        {
          "allele": "C",
          "end": 94844557,
          "referenceAllele": "C",
          "start": 94844556
        }
      ],
      "hgvs": [
        "NC_000014.8:g.94844557C=",
        "CM000676.1:g.94844557C="
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000038"
    },
    {
      "chromosome": "14",
      "coordinates": [
        {
          "allele": "C",
          "end": 93914310,
          "referenceAllele": "C",
          "start": 93914309
        }
      ],
      "hgvs": [
        "NC_000014.7:g.93914310C="
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000014"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 17473,
          "referenceAllele": "G",
          "start": 17472
        }
      ],
      "hgvs": [
        "NG_008290.1:g.17473G="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001004"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1533,
          "referenceAllele": "G",
          "start": 1532
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008941",
      "geneNCBI_id": 5265,
      "geneSymbol": "SERPINA1",
      "hgvs": [
        "ENST00000393087.9:c.*229G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000376802.4:n.*229G="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS753093",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000393087.9:c.*229G="
          },
          "RefSeq": {
            "hgvs": "NM_000295.5:c.*229G="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000376802.4:n.*229G="
          },
          "RefSeq": {
            "hgvs": "NP_000286.3:n.*229G="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1763,
          "referenceAllele": "G",
          "start": 1762
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008941",
      "geneNCBI_id": 5265,
      "geneSymbol": "SERPINA1",
      "hgvs": [
        "ENST00000355814.8:c.*229G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000348068.4:n.*229G="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS263559"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1867,
          "referenceAllele": "G",
          "start": 1866
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008941",
      "geneNCBI_id": 5265,
      "geneSymbol": "SERPINA1",
      "hgvs": [
        "ENST00000437397.5:c.*229G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000408474.1:n.*229G="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS294442"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1671,
          "referenceAllele": "G",
          "start": 1670
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008941",
      "geneNCBI_id": 5265,
      "geneSymbol": "SERPINA1",
      "hgvs": [
        "ENST00000440909.5:c.*229G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000390299.1:n.*229G="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS296122"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2059,
          "referenceAllele": "G",
          "start": 2058
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008941",
      "geneNCBI_id": 5265,
      "geneSymbol": "SERPINA1",
      "hgvs": [
        "ENST00000448921.5:c.*229G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000416066.1:n.*229G="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS299955"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1747,
          "referenceAllele": "G",
          "start": 1746
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008941",
      "geneNCBI_id": 5265,
      "geneSymbol": "SERPINA1",
      "hgvs": [
        "NM_000295.4:c.*229G="
      ],
      "proteinEffect": {
        "hgvs": "NP_000286.3:n.*229G="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006356"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1726,
          "referenceAllele": "G",
          "start": 1725
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008941",
      "geneNCBI_id": 5265,
      "geneSymbol": "SERPINA1",
      "hgvs": [
        "NM_001002235.2:c.*229G="
      ],
      "proteinEffect": {
        "hgvs": "NP_001002235.1:n.*229G="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS007233"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2040,
          "referenceAllele": "G",
          "start": 2039
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008941",
      "geneNCBI_id": 5265,
      "geneSymbol": "SERPINA1",
      "hgvs": [
        "NM_001002236.2:c.*229G="
      ],
      "proteinEffect": {
        "hgvs": "NP_001002236.1:n.*229G="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS007234"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1763,
          "referenceAllele": "G",
          "start": 1762
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008941",
      "geneNCBI_id": 5265,
      "geneSymbol": "SERPINA1",
      "hgvs": [
        "NM_001127700.1:c.*229G="
      ],
      "proteinEffect": {
        "hgvs": "NP_001121172.1:n.*229G="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS011682"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2059,
          "referenceAllele": "G",
          "start": 2058
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008941",
      "geneNCBI_id": 5265,
      "geneSymbol": "SERPINA1",
      "hgvs": [
        "NM_001127701.1:c.*229G="
      ],
      "proteinEffect": {
        "hgvs": "NP_001121173.1:n.*229G="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS011683"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1867,
          "referenceAllele": "G",
          "start": 1866
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008941",
      "geneNCBI_id": 5265,
      "geneSymbol": "SERPINA1",
      "hgvs": [
        "NM_001127702.1:c.*229G="
      ],
      "proteinEffect": {
        "hgvs": "NP_001121174.1:n.*229G="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS011684"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2022,
          "referenceAllele": "G",
          "start": 2021
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008941",
      "geneNCBI_id": 5265,
      "geneSymbol": "SERPINA1",
      "hgvs": [
        "NM_001127703.1:c.*229G="
      ],
      "proteinEffect": {
        "hgvs": "NP_001121175.1:n.*229G="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS011685"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2019,
          "referenceAllele": "G",
          "start": 2018
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008941",
      "geneNCBI_id": 5265,
      "geneSymbol": "SERPINA1",
      "hgvs": [
        "NM_001127704.1:c.*229G="
      ],
      "proteinEffect": {
        "hgvs": "NP_001121176.1:n.*229G="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS011686"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2037,
          "referenceAllele": "G",
          "start": 2036
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008941",
      "geneNCBI_id": 5265,
      "geneSymbol": "SERPINA1",
      "hgvs": [
        "NM_001127705.1:c.*229G="
      ],
      "proteinEffect": {
        "hgvs": "NP_001121177.1:n.*229G="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS011687"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1830,
          "referenceAllele": "G",
          "start": 1829
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008941",
      "geneNCBI_id": 5265,
      "geneSymbol": "SERPINA1",
      "hgvs": [
        "NM_001127706.1:c.*229G="
      ],
      "proteinEffect": {
        "hgvs": "NP_001121178.1:n.*229G="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS011688"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1827,
          "referenceAllele": "G",
          "start": 1826
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008941",
      "geneNCBI_id": 5265,
      "geneSymbol": "SERPINA1",
      "hgvs": [
        "NM_001127707.1:c.*229G="
      ],
      "proteinEffect": {
        "hgvs": "NP_001121179.1:n.*229G="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS011689"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1533,
          "referenceAllele": "G",
          "start": 1532
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008941",
      "geneNCBI_id": 5265,
      "geneSymbol": "SERPINA1",
      "hgvs": [
        "NM_000295.5:c.*229G="
      ],
      "proteinEffect": {
        "hgvs": "NP_000286.3:n.*229G="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS674776",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000393087.9:c.*229G="
          },
          "RefSeq": {
            "hgvs": "NM_000295.5:c.*229G="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000376802.4:n.*229G="
          },
          "RefSeq": {
            "hgvs": "NP_000286.3:n.*229G="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1669,
          "referenceAllele": "G",
          "start": 1668
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008941",
      "geneNCBI_id": 5265,
      "geneSymbol": "SERPINA1",
      "hgvs": [
        "NM_001002235.3:c.*229G="
      ],
      "proteinEffect": {
        "hgvs": "NP_001002235.1:n.*229G="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS675068"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1983,
          "referenceAllele": "G",
          "start": 1982
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008941",
      "geneNCBI_id": 5265,
      "geneSymbol": "SERPINA1",
      "hgvs": [
        "NM_001002236.3:c.*229G="
      ],
      "proteinEffect": {
        "hgvs": "NP_001002236.1:n.*229G="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS675069"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1706,
          "referenceAllele": "G",
          "start": 1705
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008941",
      "geneNCBI_id": 5265,
      "geneSymbol": "SERPINA1",
      "hgvs": [
        "NM_001127700.2:c.*229G="
      ],
      "proteinEffect": {
        "hgvs": "NP_001121172.1:n.*229G="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS676934"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2002,
          "referenceAllele": "G",
          "start": 2001
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008941",
      "geneNCBI_id": 5265,
      "geneSymbol": "SERPINA1",
      "hgvs": [
        "NM_001127701.2:c.*229G="
      ],
      "proteinEffect": {
        "hgvs": "NP_001121173.1:n.*229G="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS676935"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1810,
          "referenceAllele": "G",
          "start": 1809
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008941",
      "geneNCBI_id": 5265,
      "geneSymbol": "SERPINA1",
      "hgvs": [
        "NM_001127702.2:c.*229G="
      ],
      "proteinEffect": {
        "hgvs": "NP_001121174.1:n.*229G="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS676936"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1965,
          "referenceAllele": "G",
          "start": 1964
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008941",
      "geneNCBI_id": 5265,
      "geneSymbol": "SERPINA1",
      "hgvs": [
        "NM_001127703.2:c.*229G="
      ],
      "proteinEffect": {
        "hgvs": "NP_001121175.1:n.*229G="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS676937"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1962,
          "referenceAllele": "G",
          "start": 1961
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008941",
      "geneNCBI_id": 5265,
      "geneSymbol": "SERPINA1",
      "hgvs": [
        "NM_001127704.2:c.*229G="
      ],
      "proteinEffect": {
        "hgvs": "NP_001121176.1:n.*229G="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS676938"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1980,
          "referenceAllele": "G",
          "start": 1979
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008941",
      "geneNCBI_id": 5265,
      "geneSymbol": "SERPINA1",
      "hgvs": [
        "NM_001127705.2:c.*229G="
      ],
      "proteinEffect": {
        "hgvs": "NP_001121177.1:n.*229G="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS676939"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1773,
          "referenceAllele": "G",
          "start": 1772
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008941",
      "geneNCBI_id": 5265,
      "geneSymbol": "SERPINA1",
      "hgvs": [
        "NM_001127706.2:c.*229G="
      ],
      "proteinEffect": {
        "hgvs": "NP_001121178.1:n.*229G="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS676940"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1770,
          "referenceAllele": "G",
          "start": 1769
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008941",
      "geneNCBI_id": 5265,
      "geneSymbol": "SERPINA1",
      "hgvs": [
        "NM_001127707.2:c.*229G="
      ],
      "proteinEffect": {
        "hgvs": "NP_001121179.1:n.*229G="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS676941"
    }
  ],
  "type": "nucleotide"
}