{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA252477",
  "communityStandardTitle": [
    "NM_173076.3(ABCA12):c.4541G>A (p.Arg1514His)"
  ],
  "externalRecords": {
    "COSMIC": [
      {
        "@id": "http://cancer.sanger.ac.uk/cosmic/mutation/overview?id=1016108",
        "active": true,
        "id": "COSM1016108"
      },
      {
        "@id": "http://cancer.sanger.ac.uk/cosmic/mutation/overview?id=4865281",
        "active": true,
        "id": "COSM4865281"
      }
    ],
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=17896[alleleid]",
        "alleleId": 17896,
        "preferredName": "NM_173076.3(ABCA12):c.4541G>A (p.Arg1514His)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/2857",
        "RCV": [
          "RCV000002991",
          "RCV003407261"
        ],
        "variationId": 2857
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr2:g.215846949C>T?assembly=hg19",
        "id": "chr2:g.215846949C>T"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr2:g.214982225C>T?assembly=hg38",
        "id": "chr2:g.214982225C>T"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/28940270",
        "rs": 28940270
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/2-215846949-C-T?dataset=gnomad_r2_1",
        "id": "2-215846949-C-T",
        "variant": "2:215846949 C / T"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/2-214982225-C-T?dataset=gnomad_r3",
        "id": "2-214982225-C-T",
        "variant": "2:214982225 C / T"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/2-214982225-C-T?dataset=gnomad_r4",
        "id": "2-214982225-C-T",
        "variant": "2:214982225 C / T"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "2",
      "coordinates": [
        {
          "allele": "T",
          "end": 214982225,
          "referenceAllele": "C",
          "start": 214982224
        }
      ],
      "hgvs": [
        "NC_000002.12:g.214982225C>T",
        "CM000664.2:g.214982225C>T"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000050"
    },
    {
      "chromosome": "2",
      "coordinates": [
        {
          "allele": "T",
          "end": 215846949,
          "referenceAllele": "C",
          "start": 215846948
        }
      ],
      "hgvs": [
        "NC_000002.11:g.215846949C>T",
        "CM000664.1:g.215846949C>T"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000026"
    },
    {
      "chromosome": "2",
      "coordinates": [
        {
          "allele": "T",
          "end": 215555194,
          "referenceAllele": "C",
          "start": 215555193
        }
      ],
      "hgvs": [
        "NC_000002.10:g.215555194C>T"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000002"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 161203,
          "referenceAllele": "G",
          "start": 161202
        }
      ],
      "hgvs": [
        "NG_007074.1:g.161203G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS000454"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 4959,
          "referenceAllele": "G",
          "start": 4958
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014637",
      "geneNCBI_id": 26154,
      "geneSymbol": "ABCA12",
      "hgvs": [
        "ENST00000272895.12:c.4541G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000272895.7:p.Arg1514His",
        "hgvsWellDefined": "ENSP00000272895.7:p.Arg1514His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS743267",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000272895.12:c.4541G>A"
          },
          "RefSeq": {
            "hgvs": "NM_173076.3:c.4541G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000272895.7:p.Arg1514His"
          },
          "RefSeq": {
            "hgvs": "NP_775099.2:p.Arg1514His"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 4761,
          "referenceAllele": "G",
          "start": 4760
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014637",
      "geneNCBI_id": 26154,
      "geneSymbol": "ABCA12",
      "hgvs": [
        "ENST00000272895.11:c.4541G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000272895.7:p.Arg1514His",
        "hgvsWellDefined": "ENSP00000272895.7:p.Arg1514His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS252410"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3746,
          "referenceAllele": "G",
          "start": 3745
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014637",
      "geneNCBI_id": 26154,
      "geneSymbol": "ABCA12",
      "hgvs": [
        "ENST00000389661.4:c.3587G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000374312.4:p.Arg1196His",
        "hgvsWellDefined": "ENSP00000374312.4:p.Arg1196His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS274262"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829840031",
      "coordinates": [
        {
          "allele": "A",
          "end": 3746,
          "referenceAllele": "G",
          "start": 3745
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014637",
      "geneNCBI_id": 26154,
      "geneSymbol": "ABCA12",
      "hgvs": [
        "NM_015657.3:c.3587G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_056472.2:p.Arg1196His",
        "hgvsWellDefined": "NP_056472.2:p.Arg1196His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS034170"
    },
    {
      "@id": "http://reg.genome.network/allele/PA104769",
      "coordinates": [
        {
          "allele": "A",
          "end": 4761,
          "referenceAllele": "G",
          "start": 4760
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014637",
      "geneNCBI_id": 26154,
      "geneSymbol": "ABCA12",
      "hgvs": [
        "NM_173076.2:c.4541G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_775099.2:p.Arg1514His",
        "hgvsWellDefined": "NP_775099.2:p.Arg1514His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS042761"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 4841,
          "referenceAllele": "G",
          "start": 4840
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014637",
      "geneNCBI_id": 26154,
      "geneSymbol": "ABCA12",
      "hgvs": [
        "NR_103740.1:n.4841G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS053001"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 4922,
          "referenceAllele": "G",
          "start": 4921
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014637",
      "geneNCBI_id": 26154,
      "geneSymbol": "ABCA12",
      "hgvs": [
        "XM_011510951.1:c.4550G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011509253.1:p.Arg1517His",
        "hgvsWellDefined": "XP_011509253.1:p.Arg1517His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS078212"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 4922,
          "referenceAllele": "G",
          "start": 4921
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014637",
      "geneNCBI_id": 26154,
      "geneSymbol": "ABCA12",
      "hgvs": [
        "XM_011510952.1:c.4550G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011509254.1:p.Arg1517His",
        "hgvsWellDefined": "XP_011509254.1:p.Arg1517His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS078213"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 4933,
          "referenceAllele": "G",
          "start": 4932
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014637",
      "geneNCBI_id": 26154,
      "geneSymbol": "ABCA12",
      "hgvs": [
        "XM_011510951.2:c.4550G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011509253.1:p.Arg1517His",
        "hgvsWellDefined": "XP_011509253.1:p.Arg1517His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS541945"
    },
    {
      "@id": "http://reg.genome.network/allele/PA104769",
      "coordinates": [
        {
          "allele": "A",
          "end": 4959,
          "referenceAllele": "G",
          "start": 4958
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014637",
      "geneNCBI_id": 26154,
      "geneSymbol": "ABCA12",
      "hgvs": [
        "NM_173076.3:c.4541G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_775099.2:p.Arg1514His",
        "hgvsWellDefined": "NP_775099.2:p.Arg1514His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS672619",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000272895.12:c.4541G>A"
          },
          "RefSeq": {
            "hgvs": "NM_173076.3:c.4541G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000272895.7:p.Arg1514His"
          },
          "RefSeq": {
            "hgvs": "NP_775099.2:p.Arg1514His"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 5039,
          "referenceAllele": "G",
          "start": 5038
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014637",
      "geneNCBI_id": 26154,
      "geneSymbol": "ABCA12",
      "hgvs": [
        "NR_103740.2:n.5039G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS702874"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829840031",
      "coordinates": [
        {
          "allele": "A",
          "end": 3746,
          "referenceAllele": "G",
          "start": 3745
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014637",
      "geneNCBI_id": 26154,
      "geneSymbol": "ABCA12",
      "hgvs": [
        "NM_015657.4:c.3587G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_056472.2:p.Arg1196His",
        "hgvsWellDefined": "NP_056472.2:p.Arg1196His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS728101"
    }
  ],
  "type": "nucleotide"
}