{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA7925669",
  "communityStandardTitle": [
    "NM_001171.6(ABCC6):c.3168C>T (p.Asp1056=)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=1287462[alleleid]",
        "alleleId": 1287462,
        "preferredName": "NM_001171.6(ABCC6):c.3168C>T (p.Asp1056=)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/1297675",
        "RCV": [
          "RCV001723443",
          "RCV004542096"
        ],
        "variationId": 1297675
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/16-16259618-G-A",
        "id": "16-16259618-G-A",
        "variant": "16:16259618 G / A"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr16:g.16259618G>A?assembly=hg19",
        "id": "chr16:g.16259618G>A"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr16:g.16165761G>A?assembly=hg38",
        "id": "chr16:g.16165761G>A"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/72657694",
        "rs": 72657694
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/16-16259618-G-A?dataset=gnomad_r2_1",
        "id": "16-16259618-G-A",
        "variant": "16:16259618 G / A"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/16-16165761-G-A?dataset=gnomad_r3",
        "id": "16-16165761-G-A",
        "variant": "16:16165761 G / A"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/16-16165761-G-A?dataset=gnomad_r4",
        "id": "16-16165761-G-A",
        "variant": "16:16165761 G / A"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "16",
      "coordinates": [
        {
          "allele": "A",
          "end": 16165761,
          "referenceAllele": "G",
          "start": 16165760
        }
      ],
      "hgvs": [
        "NC_000016.10:g.16165761G>A",
        "CM000678.2:g.16165761G>A"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000064"
    },
    {
      "chromosome": "16",
      "coordinates": [
        {
          "allele": "A",
          "end": 16259618,
          "referenceAllele": "G",
          "start": 16259617
        }
      ],
      "hgvs": [
        "NC_000016.9:g.16259618G>A",
        "CM000678.1:g.16259618G>A"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000040"
    },
    {
      "chromosome": "16",
      "coordinates": [
        {
          "allele": "A",
          "end": 16167119,
          "referenceAllele": "G",
          "start": 16167118
        }
      ],
      "hgvs": [
        "NC_000016.8:g.16167119G>A"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000016"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 62711,
          "referenceAllele": "C",
          "start": 62710
        }
      ],
      "hgvs": [
        "NG_007558.2:g.62711C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS000648"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 62857,
          "referenceAllele": "C",
          "start": 62856
        }
      ],
      "hgvs": [
        "NG_007558.3:g.62857C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS733313"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3228,
          "referenceAllele": "C",
          "start": 3227
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000057",
      "geneNCBI_id": 368,
      "geneSymbol": "ABCC6",
      "hgvs": [
        "ENST00000622290.5:c.3168C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000483331.2:p.Asp1056="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS826576"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3228,
          "referenceAllele": "C",
          "start": 3227
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000057",
      "geneNCBI_id": 368,
      "geneSymbol": "ABCC6",
      "hgvs": [
        "ENST00000205557.12:c.3168C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000205557.7:p.Asp1056="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS740175",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000205557.12:c.3168C>T"
          },
          "RefSeq": {
            "hgvs": "NM_001171.6:c.3168C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000205557.7:p.Asp1056="
          },
          "RefSeq": {
            "hgvs": "NP_001162.5:p.Asp1056="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 183,
          "referenceAllele": "C",
          "start": 182
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000057",
      "geneNCBI_id": 368,
      "geneSymbol": "ABCC6",
      "hgvs": [
        "ENST00000640696.1:c.183C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000492197.1:p.Asp61="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS765624"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3198,
          "referenceAllele": "C",
          "start": 3197
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000057",
      "geneNCBI_id": 368,
      "geneSymbol": "ABCC6",
      "hgvs": [
        "ENST00000205557.11:c.3168C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000205557.7:p.Asp1056="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247821"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2993,
          "referenceAllele": "C",
          "start": 2992
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000057",
      "geneNCBI_id": 368,
      "geneSymbol": "ABCC6",
      "hgvs": [
        "ENST00000456970.6:c.2993C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000405002.2:n.2993C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS303727"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3030,
          "referenceAllele": "C",
          "start": 3029
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000057",
      "geneNCBI_id": 368,
      "geneSymbol": "ABCC6",
      "hgvs": [
        "ENST00000622290.4:c.*377C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000483331.1:n.*377C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS405655"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3205,
          "referenceAllele": "C",
          "start": 3204
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000057",
      "geneNCBI_id": 368,
      "geneSymbol": "ABCC6",
      "hgvs": [
        "NM_001171.5:c.3168C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001162.4:p.Asp1056="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS015270"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3365,
          "referenceAllele": "C",
          "start": 3364
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000057",
      "geneNCBI_id": 368,
      "geneSymbol": "ABCC6",
      "hgvs": [
        "XM_011522479.1:c.3135C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011520781.1:p.Asp1045="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS089630"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3153,
          "referenceAllele": "C",
          "start": 3152
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000057",
      "geneNCBI_id": 368,
      "geneSymbol": "ABCC6",
      "hgvs": [
        "XM_011522480.1:c.2826C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011520782.1:p.Asp942="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS089631"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3338,
          "referenceAllele": "C",
          "start": 3337
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000057",
      "geneNCBI_id": 368,
      "geneSymbol": "ABCC6",
      "hgvs": [
        "XM_011522481.1:c.2826C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011520783.1:p.Asp942="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS089632"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3403,
          "referenceAllele": "C",
          "start": 3402
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000057",
      "geneNCBI_id": 368,
      "geneSymbol": "ABCC6",
      "hgvs": [
        "XR_932836.1:n.3403C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS128735"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3404,
          "referenceAllele": "C",
          "start": 3403
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000057",
      "geneNCBI_id": 368,
      "geneSymbol": "ABCC6",
      "hgvs": [
        "XR_932837.1:n.3404C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS128736"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3404,
          "referenceAllele": "C",
          "start": 3403
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000057",
      "geneNCBI_id": 368,
      "geneSymbol": "ABCC6",
      "hgvs": [
        "XR_932838.1:n.3404C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS128737"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827627389",
      "coordinates": [
        {
          "allele": "T",
          "end": 3236,
          "referenceAllele": "C",
          "start": 3235
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000057",
      "geneNCBI_id": 368,
      "geneSymbol": "ABCC6",
      "hgvs": [
        "NM_001351800.1:c.2826C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001338729.1:p.Asp942="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS520461"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3030,
          "referenceAllele": "C",
          "start": 3029
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000057",
      "geneNCBI_id": 368,
      "geneSymbol": "ABCC6",
      "hgvs": [
        "NR_147784.1:n.3030C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS530836"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3316,
          "referenceAllele": "C",
          "start": 3315
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000057",
      "geneNCBI_id": 368,
      "geneSymbol": "ABCC6",
      "hgvs": [
        "XM_011522479.2:c.3135C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011520781.1:p.Asp1045="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS546607"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3351,
          "referenceAllele": "C",
          "start": 3350
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000057",
      "geneNCBI_id": 368,
      "geneSymbol": "ABCC6",
      "hgvs": [
        "XM_011522481.3:c.2826C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011520783.1:p.Asp942="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS546608"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3181,
          "referenceAllele": "C",
          "start": 3180
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000057",
      "geneNCBI_id": 368,
      "geneSymbol": "ABCC6",
      "hgvs": [
        "XM_017023212.1:c.3000C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_016878701.1:p.Asp1000="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS574012"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3350,
          "referenceAllele": "C",
          "start": 3349
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000057",
      "geneNCBI_id": 368,
      "geneSymbol": "ABCC6",
      "hgvs": [
        "XM_017023214.1:c.3168C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_016878703.1:p.Asp1056="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS574013"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3387,
          "referenceAllele": "C",
          "start": 3386
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000057",
      "geneNCBI_id": 368,
      "geneSymbol": "ABCC6",
      "hgvs": [
        "XM_024450261.1:c.3204C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_024306029.1:p.Asp1068="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS583801"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3349,
          "referenceAllele": "C",
          "start": 3348
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000057",
      "geneNCBI_id": 368,
      "geneSymbol": "ABCC6",
      "hgvs": [
        "XR_932836.2:n.3349C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS610311"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3349,
          "referenceAllele": "C",
          "start": 3348
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000057",
      "geneNCBI_id": 368,
      "geneSymbol": "ABCC6",
      "hgvs": [
        "XR_932837.3:n.3349C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS610312"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3349,
          "referenceAllele": "C",
          "start": 3348
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000057",
      "geneNCBI_id": 368,
      "geneSymbol": "ABCC6",
      "hgvs": [
        "XR_932838.3:n.3349C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS610313"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826010780",
      "coordinates": [
        {
          "allele": "T",
          "end": 3228,
          "referenceAllele": "C",
          "start": 3227
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000057",
      "geneNCBI_id": 368,
      "geneSymbol": "ABCC6",
      "hgvs": [
        "NM_001171.6:c.3168C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001162.5:p.Asp1056="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS713353",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000205557.12:c.3168C>T"
          },
          "RefSeq": {
            "hgvs": "NM_001171.6:c.3168C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000205557.7:p.Asp1056="
          },
          "RefSeq": {
            "hgvs": "NP_001162.5:p.Asp1056="
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}