{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA1327160313",
  "communityStandardTitle": [
    "NM_173076.3(ABCA12):c.4951G= (p.Gly1651=)"
  ],
  "externalRecords": {
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/28940568",
        "rs": 28940568
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "2",
      "coordinates": [
        {
          "allele": "C",
          "end": 214978830,
          "referenceAllele": "C",
          "start": 214978829
        }
      ],
      "hgvs": [
        "NC_000002.12:g.214978830C=",
        "CM000664.2:g.214978830C="
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000050"
    },
    {
      "chromosome": "2",
      "coordinates": [
        {
          "allele": "C",
          "end": 215843554,
          "referenceAllele": "C",
          "start": 215843553
        }
      ],
      "hgvs": [
        "NC_000002.11:g.215843554C=",
        "CM000664.1:g.215843554C="
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000026"
    },
    {
      "chromosome": "2",
      "coordinates": [
        {
          "allele": "C",
          "end": 215551799,
          "referenceAllele": "C",
          "start": 215551798
        }
      ],
      "hgvs": [
        "NC_000002.10:g.215551799C="
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000002"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 164598,
          "referenceAllele": "G",
          "start": 164597
        }
      ],
      "hgvs": [
        "NG_007074.1:g.164598G="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS000454"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 5369,
          "referenceAllele": "G",
          "start": 5368
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014637",
      "geneNCBI_id": 26154,
      "geneSymbol": "ABCA12",
      "hgvs": [
        "ENST00000272895.12:c.4951G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000272895.7:p.Gly1651="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS743267",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000272895.12:c.4951G="
          },
          "RefSeq": {
            "hgvs": "NM_173076.3:c.4951G="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000272895.7:p.Gly1651="
          },
          "RefSeq": {
            "hgvs": "NP_775099.2:p.Gly1651="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 5171,
          "referenceAllele": "G",
          "start": 5170
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014637",
      "geneNCBI_id": 26154,
      "geneSymbol": "ABCA12",
      "hgvs": [
        "ENST00000272895.11:c.4951G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000272895.7:p.Gly1651="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS252410"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 4156,
          "referenceAllele": "G",
          "start": 4155
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014637",
      "geneNCBI_id": 26154,
      "geneSymbol": "ABCA12",
      "hgvs": [
        "ENST00000389661.4:c.3997G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000374312.4:p.Gly1333="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS274262"
    },
    {
      "@id": "http://reg.genome.network/allele/PA3066508754",
      "coordinates": [
        {
          "allele": "G",
          "end": 4156,
          "referenceAllele": "G",
          "start": 4155
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014637",
      "geneNCBI_id": 26154,
      "geneSymbol": "ABCA12",
      "hgvs": [
        "NM_015657.3:c.3997G="
      ],
      "proteinEffect": {
        "hgvs": "NP_056472.2:p.Gly1333="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS034170"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 5171,
          "referenceAllele": "G",
          "start": 5170
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014637",
      "geneNCBI_id": 26154,
      "geneSymbol": "ABCA12",
      "hgvs": [
        "NM_173076.2:c.4951G="
      ],
      "proteinEffect": {
        "hgvs": "NP_775099.2:p.Gly1651="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS042761"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 5251,
          "referenceAllele": "G",
          "start": 5250
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014637",
      "geneNCBI_id": 26154,
      "geneSymbol": "ABCA12",
      "hgvs": [
        "NR_103740.1:n.5251G="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS053001"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 5332,
          "referenceAllele": "G",
          "start": 5331
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014637",
      "geneNCBI_id": 26154,
      "geneSymbol": "ABCA12",
      "hgvs": [
        "XM_011510951.1:c.4960G="
      ],
      "proteinEffect": {
        "hgvs": "XP_011509253.1:p.Gly1654="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS078212"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 5332,
          "referenceAllele": "G",
          "start": 5331
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014637",
      "geneNCBI_id": 26154,
      "geneSymbol": "ABCA12",
      "hgvs": [
        "XM_011510952.1:c.4960G="
      ],
      "proteinEffect": {
        "hgvs": "XP_011509254.1:p.Gly1654="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS078213"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 5343,
          "referenceAllele": "G",
          "start": 5342
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014637",
      "geneNCBI_id": 26154,
      "geneSymbol": "ABCA12",
      "hgvs": [
        "XM_011510951.2:c.4960G="
      ],
      "proteinEffect": {
        "hgvs": "XP_011509253.1:p.Gly1654="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS541945"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 5369,
          "referenceAllele": "G",
          "start": 5368
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014637",
      "geneNCBI_id": 26154,
      "geneSymbol": "ABCA12",
      "hgvs": [
        "NM_173076.3:c.4951G="
      ],
      "proteinEffect": {
        "hgvs": "NP_775099.2:p.Gly1651="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS672619",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000272895.12:c.4951G="
          },
          "RefSeq": {
            "hgvs": "NM_173076.3:c.4951G="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000272895.7:p.Gly1651="
          },
          "RefSeq": {
            "hgvs": "NP_775099.2:p.Gly1651="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 5449,
          "referenceAllele": "G",
          "start": 5448
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014637",
      "geneNCBI_id": 26154,
      "geneSymbol": "ABCA12",
      "hgvs": [
        "NR_103740.2:n.5449G="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS702874"
    },
    {
      "@id": "http://reg.genome.network/allele/PA3066508754",
      "coordinates": [
        {
          "allele": "G",
          "end": 4156,
          "referenceAllele": "G",
          "start": 4155
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014637",
      "geneNCBI_id": 26154,
      "geneSymbol": "ABCA12",
      "hgvs": [
        "NM_015657.4:c.3997G="
      ],
      "proteinEffect": {
        "hgvs": "NP_056472.2:p.Gly1333="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS728101"
    }
  ],
  "type": "nucleotide"
}