{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA350483408",
  "communityStandardTitle": [
    "NM_173076.3(ABCA12):c.2319T>G (p.Ile773Met)"
  ],
  "externalRecords": {
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr2:g.215876176A>C?assembly=hg19",
        "id": "chr2:g.215876176A>C"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr2:g.215011452A>C?assembly=hg38",
        "id": "chr2:g.215011452A>C"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "2",
      "coordinates": [
        {
          "allele": "C",
          "end": 215011452,
          "referenceAllele": "A",
          "start": 215011451
        }
      ],
      "hgvs": [
        "NC_000002.12:g.215011452A>C",
        "CM000664.2:g.215011452A>C"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000050"
    },
    {
      "chromosome": "2",
      "coordinates": [
        {
          "allele": "C",
          "end": 215876176,
          "referenceAllele": "A",
          "start": 215876175
        }
      ],
      "hgvs": [
        "NC_000002.11:g.215876176A>C",
        "CM000664.1:g.215876176A>C"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000026"
    },
    {
      "chromosome": "2",
      "coordinates": [
        {
          "allele": "C",
          "end": 215584421,
          "referenceAllele": "A",
          "start": 215584420
        }
      ],
      "hgvs": [
        "NC_000002.10:g.215584421A>C"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000002"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 131976,
          "referenceAllele": "T",
          "start": 131975
        }
      ],
      "hgvs": [
        "NG_007074.1:g.131976T>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS000454"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2737,
          "referenceAllele": "T",
          "start": 2736
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014637",
      "geneNCBI_id": 26154,
      "geneSymbol": "ABCA12",
      "hgvs": [
        "ENST00000272895.12:c.2319T>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000272895.7:p.Ile773Met",
        "hgvsWellDefined": "ENSP00000272895.7:p.Ile773Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS743267",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000272895.12:c.2319T>G"
          },
          "RefSeq": {
            "hgvs": "NM_173076.3:c.2319T>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000272895.7:p.Ile773Met"
          },
          "RefSeq": {
            "hgvs": "NP_775099.2:p.Ile773Met"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2539,
          "referenceAllele": "T",
          "start": 2538
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014637",
      "geneNCBI_id": 26154,
      "geneSymbol": "ABCA12",
      "hgvs": [
        "ENST00000272895.11:c.2319T>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000272895.7:p.Ile773Met",
        "hgvsWellDefined": "ENSP00000272895.7:p.Ile773Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS252410"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1524,
          "referenceAllele": "T",
          "start": 1523
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014637",
      "geneNCBI_id": 26154,
      "geneSymbol": "ABCA12",
      "hgvs": [
        "ENST00000389661.4:c.1365T>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000374312.4:p.Ile455Met",
        "hgvsWellDefined": "ENSP00000374312.4:p.Ile455Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS274262"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1524,
          "referenceAllele": "T",
          "start": 1523
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014637",
      "geneNCBI_id": 26154,
      "geneSymbol": "ABCA12",
      "hgvs": [
        "NM_015657.3:c.1365T>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_056472.2:p.Ile455Met",
        "hgvsWellDefined": "NP_056472.2:p.Ile455Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS034170"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2539,
          "referenceAllele": "T",
          "start": 2538
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014637",
      "geneNCBI_id": 26154,
      "geneSymbol": "ABCA12",
      "hgvs": [
        "NM_173076.2:c.2319T>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_775099.2:p.Ile773Met",
        "hgvsWellDefined": "NP_775099.2:p.Ile773Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS042761"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2563,
          "referenceAllele": "T",
          "start": 2562
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014637",
      "geneNCBI_id": 26154,
      "geneSymbol": "ABCA12",
      "hgvs": [
        "NR_103740.1:n.2563T>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS053001"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2691,
          "referenceAllele": "T",
          "start": 2690
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014637",
      "geneNCBI_id": 26154,
      "geneSymbol": "ABCA12",
      "hgvs": [
        "XM_011510951.1:c.2319T>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011509253.1:p.Ile773Met",
        "hgvsWellDefined": "XP_011509253.1:p.Ile773Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS078212"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2691,
          "referenceAllele": "T",
          "start": 2690
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014637",
      "geneNCBI_id": 26154,
      "geneSymbol": "ABCA12",
      "hgvs": [
        "XM_011510952.1:c.2319T>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011509254.1:p.Ile773Met",
        "hgvsWellDefined": "XP_011509254.1:p.Ile773Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS078213"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2702,
          "referenceAllele": "T",
          "start": 2701
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014637",
      "geneNCBI_id": 26154,
      "geneSymbol": "ABCA12",
      "hgvs": [
        "XM_011510951.2:c.2319T>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011509253.1:p.Ile773Met",
        "hgvsWellDefined": "XP_011509253.1:p.Ile773Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS541945"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2737,
          "referenceAllele": "T",
          "start": 2736
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014637",
      "geneNCBI_id": 26154,
      "geneSymbol": "ABCA12",
      "hgvs": [
        "NM_173076.3:c.2319T>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_775099.2:p.Ile773Met",
        "hgvsWellDefined": "NP_775099.2:p.Ile773Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS672619",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000272895.12:c.2319T>G"
          },
          "RefSeq": {
            "hgvs": "NM_173076.3:c.2319T>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000272895.7:p.Ile773Met"
          },
          "RefSeq": {
            "hgvs": "NP_775099.2:p.Ile773Met"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2761,
          "referenceAllele": "T",
          "start": 2760
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014637",
      "geneNCBI_id": 26154,
      "geneSymbol": "ABCA12",
      "hgvs": [
        "NR_103740.2:n.2761T>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS702874"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1524,
          "referenceAllele": "T",
          "start": 1523
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014637",
      "geneNCBI_id": 26154,
      "geneSymbol": "ABCA12",
      "hgvs": [
        "NM_015657.4:c.1365T>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_056472.2:p.Ile455Met",
        "hgvsWellDefined": "NP_056472.2:p.Ile455Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS728101"
    }
  ],
  "type": "nucleotide"
}