{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA10588334",
  "communityStandardTitle": [
    "NM_173076.3(ABCA12):c.1660C>T (p.Gln554Ter)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=259724[alleleid]",
        "alleleId": 259724,
        "preferredName": "NM_173076.3(ABCA12):c.1660C>T (p.Gln554Ter)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/265002",
        "RCV": [
          "RCV000255237"
        ],
        "variationId": 265002
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr2:g.215882854G>A?assembly=hg19",
        "id": "chr2:g.215882854G>A"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr2:g.215018130G>A?assembly=hg38",
        "id": "chr2:g.215018130G>A"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/886039296",
        "rs": 886039296
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/2-215018130-G-A?dataset=gnomad_r4",
        "id": "2-215018130-G-A",
        "variant": "2:215018130 G / A"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "2",
      "coordinates": [
        {
          "allele": "A",
          "end": 215018130,
          "referenceAllele": "G",
          "start": 215018129
        }
      ],
      "hgvs": [
        "NC_000002.12:g.215018130G>A",
        "CM000664.2:g.215018130G>A"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000050"
    },
    {
      "chromosome": "2",
      "coordinates": [
        {
          "allele": "A",
          "end": 215882854,
          "referenceAllele": "G",
          "start": 215882853
        }
      ],
      "hgvs": [
        "NC_000002.11:g.215882854G>A",
        "CM000664.1:g.215882854G>A"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000026"
    },
    {
      "chromosome": "2",
      "coordinates": [
        {
          "allele": "A",
          "end": 215591099,
          "referenceAllele": "G",
          "start": 215591098
        }
      ],
      "hgvs": [
        "NC_000002.10:g.215591099G>A"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000002"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 125298,
          "referenceAllele": "C",
          "start": 125297
        }
      ],
      "hgvs": [
        "NG_007074.1:g.125298C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS000454"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2078,
          "referenceAllele": "C",
          "start": 2077
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014637",
      "geneNCBI_id": 26154,
      "geneSymbol": "ABCA12",
      "hgvs": [
        "ENST00000272895.12:c.1660C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000272895.7:p.Gln554Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS743267",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000272895.12:c.1660C>T"
          },
          "RefSeq": {
            "hgvs": "NM_173076.3:c.1660C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000272895.7:p.Gln554Ter"
          },
          "RefSeq": {
            "hgvs": "NP_775099.2:p.Gln554Ter"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1880,
          "referenceAllele": "C",
          "start": 1879
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014637",
      "geneNCBI_id": 26154,
      "geneSymbol": "ABCA12",
      "hgvs": [
        "ENST00000272895.11:c.1660C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000272895.7:p.Gln554Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS252410"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 865,
          "referenceAllele": "C",
          "start": 864
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014637",
      "geneNCBI_id": 26154,
      "geneSymbol": "ABCA12",
      "hgvs": [
        "ENST00000389661.4:c.706C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000374312.4:p.Gln236Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS274262"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 865,
          "referenceAllele": "C",
          "start": 864
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014637",
      "geneNCBI_id": 26154,
      "geneSymbol": "ABCA12",
      "hgvs": [
        "NM_015657.3:c.706C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_056472.2:p.Gln236Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS034170"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1880,
          "referenceAllele": "C",
          "start": 1879
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014637",
      "geneNCBI_id": 26154,
      "geneSymbol": "ABCA12",
      "hgvs": [
        "NM_173076.2:c.1660C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_775099.2:p.Gln554Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS042761"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1904,
          "referenceAllele": "C",
          "start": 1903
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014637",
      "geneNCBI_id": 26154,
      "geneSymbol": "ABCA12",
      "hgvs": [
        "NR_103740.1:n.1904C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS053001"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2032,
          "referenceAllele": "C",
          "start": 2031
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014637",
      "geneNCBI_id": 26154,
      "geneSymbol": "ABCA12",
      "hgvs": [
        "XM_011510951.1:c.1660C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011509253.1:p.Gln554Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS078212"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2032,
          "referenceAllele": "C",
          "start": 2031
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014637",
      "geneNCBI_id": 26154,
      "geneSymbol": "ABCA12",
      "hgvs": [
        "XM_011510952.1:c.1660C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011509254.1:p.Gln554Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS078213"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2043,
          "referenceAllele": "C",
          "start": 2042
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014637",
      "geneNCBI_id": 26154,
      "geneSymbol": "ABCA12",
      "hgvs": [
        "XM_011510951.2:c.1660C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011509253.1:p.Gln554Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS541945"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2078,
          "referenceAllele": "C",
          "start": 2077
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014637",
      "geneNCBI_id": 26154,
      "geneSymbol": "ABCA12",
      "hgvs": [
        "NM_173076.3:c.1660C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_775099.2:p.Gln554Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS672619",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000272895.12:c.1660C>T"
          },
          "RefSeq": {
            "hgvs": "NM_173076.3:c.1660C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000272895.7:p.Gln554Ter"
          },
          "RefSeq": {
            "hgvs": "NP_775099.2:p.Gln554Ter"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2102,
          "referenceAllele": "C",
          "start": 2101
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014637",
      "geneNCBI_id": 26154,
      "geneSymbol": "ABCA12",
      "hgvs": [
        "NR_103740.2:n.2102C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS702874"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 865,
          "referenceAllele": "C",
          "start": 864
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014637",
      "geneNCBI_id": 26154,
      "geneSymbol": "ABCA12",
      "hgvs": [
        "NM_015657.4:c.706C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_056472.2:p.Gln236Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS728101"
    }
  ],
  "type": "nucleotide"
}