{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA255366731", "communityStandardTitle": [ "NM_000282.4(PCCA):c.1997T>A (p.Met666Lys)" ], "externalRecords": { "ClinVarAlleles": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=547287[alleleid]", "alleleId": 547287, "preferredName": "NM_000282.4(PCCA):c.1997T>A (p.Met666Lys)" } ], "ClinVarVariations": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/558610", "RCV": [ "RCV000674908", "RCV004526009" ], "variationId": 558610 } ], "MyVariantInfo_hg19": [ { "@id": "http://myvariant.info/v1/variant/chr13:g.101167778T>A?assembly=hg19", "id": "chr13:g.101167778T>A" } ], "MyVariantInfo_hg38": [ { "@id": "http://myvariant.info/v1/variant/chr13:g.100515524T>A?assembly=hg38", "id": "chr13:g.100515524T>A" } ], "dbSNP": [ { "@id": "http://www.ncbi.nlm.nih.gov/snp/999241357", "rs": 999241357 } ], "gnomAD_2": [ { "@id": "http://gnomad.broadinstitute.org/variant/13-101167778-T-A?dataset=gnomad_r2_1", "id": "13-101167778-T-A", "variant": "13:101167778 T / A" } ], "gnomAD_3": [ { "@id": "http://gnomad.broadinstitute.org/variant/13-100515524-T-A?dataset=gnomad_r3", "id": "13-100515524-T-A", "variant": "13:100515524 T / A" } ], "gnomAD_4": [ { "@id": "http://gnomad.broadinstitute.org/variant/13-100515524-T-A?dataset=gnomad_r4", "id": "13-100515524-T-A", "variant": "13:100515524 T / A" } ] }, "genomicAlleles": [ { "chromosome": "13", "coordinates": [ { "allele": "A", "end": 100515524, "referenceAllele": "T", "start": 100515523 } ], "hgvs": [ "NC_000013.11:g.100515524T>A", "CM000675.2:g.100515524T>A" ], "referenceGenome": "GRCh38", "referenceSequence": "http://reg.genome.network/refseq/RS000061" }, { "chromosome": "13", "coordinates": [ { "allele": "A", "end": 101167778, "referenceAllele": "T", "start": 101167777 } ], "hgvs": [ "NC_000013.10:g.101167778T>A", "CM000675.1:g.101167778T>A" ], "referenceGenome": "GRCh37", "referenceSequence": "http://reg.genome.network/refseq/RS000037" }, { "chromosome": "13", "coordinates": [ { "allele": "A", "end": 99965779, "referenceAllele": "T", "start": 99965778 } ], "hgvs": [ "NC_000013.9:g.99965779T>A" ], "referenceGenome": "NCBI36", "referenceSequence": "http://reg.genome.network/refseq/RS000013" }, { "coordinates": [ { "allele": "A", "end": 431442, "referenceAllele": "T", "start": 431441 } ], "hgvs": [ "NG_008768.1:g.431442T>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS001207" } ], "transcriptAlleles": [ { "coordinates": [ { "allele": "A", "end": 2025, "referenceAllele": "T", "start": 2024 } ], "gene": "http://reg.genome.network/gene/GN008653", "geneNCBI_id": 5095, "geneSymbol": "PCCA", "hgvs": [ "ENST00000376285.6:c.1997T>A" ], "proteinEffect": { "hgvs": "ENSP00000365462.1:p.Met666Lys", "hgvsWellDefined": "ENSP00000365462.1:p.Met666Lys" }, "referenceSequence": "http://reg.genome.network/refseq/RS751741", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000376285.6:c.1997T>A" }, "RefSeq": { "hgvs": "NM_000282.4:c.1997T>A" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000365462.1:p.Met666Lys" }, "RefSeq": { "hgvs": "NP_000273.2:p.Met666Lys" } } } }, { "coordinates": [ { "allele": "A", "end": 1195, "referenceAllele": "T", "start": 1194 } ], "gene": "http://reg.genome.network/gene/GN008653", "geneNCBI_id": 5095, "geneSymbol": "PCCA", "hgvs": [ "ENST00000636366.1:c.1195T>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS763062" }, { "coordinates": [ { "allele": "A", "end": 1512, "referenceAllele": "T", "start": 1511 } ], "gene": "http://reg.genome.network/gene/GN008653", "geneNCBI_id": 5095, "geneSymbol": "PCCA", "hgvs": [ "ENST00000636475.1:c.1512T>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS763141" }, { "coordinates": [ { "allele": "A", "end": 1657, "referenceAllele": "T", "start": 1656 } ], "gene": "http://reg.genome.network/gene/GN008653", "geneNCBI_id": 5095, "geneSymbol": "PCCA", "hgvs": [ "ENST00000637657.1:c.1657T>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS764019" }, { "coordinates": [ { "allele": "A", "end": 1751, "referenceAllele": "T", "start": 1750 } ], "gene": "http://reg.genome.network/gene/GN008653", "geneNCBI_id": 5095, "geneSymbol": "PCCA", "hgvs": [ "ENST00000647303.1:c.*1481T>A" ], "proteinEffect": { "hgvs": "ENSP00000495663.1:n.*1481T>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS769340" }, { "coordinates": [ { "allele": "A", "end": 2005, "endIntronDirection": "-", "endIntronOffset": 12150, "referenceAllele": "T", "start": 2005, "startIntronDirection": "-", "startIntronOffset": 12151 } ], "gene": "http://reg.genome.network/gene/GN008653", "geneNCBI_id": 5095, "geneSymbol": "PCCA", "hgvs": [ "ENST00000376279.7:c.1900-12151T>A" ], "proteinEffect": { "hgvs": "ENSP00000365456.3:n.1900-12151T>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS271086" }, { "coordinates": [ { "allele": "A", "end": 2035, "referenceAllele": "T", "start": 2034 } ], "gene": "http://reg.genome.network/gene/GN008653", "geneNCBI_id": 5095, "geneSymbol": "PCCA", "hgvs": [ "ENST00000376285.5:c.1997T>A" ], "proteinEffect": { "hgvs": "ENSP00000365462.1:p.Met666Lys", "hgvsWellDefined": "ENSP00000365462.1:p.Met666Lys" }, "referenceSequence": "http://reg.genome.network/refseq/RS271088" }, { "coordinates": [ { "allele": "A", "end": 2025, "referenceAllele": "T", "start": 2024 } ], "gene": "http://reg.genome.network/gene/GN008653", "geneNCBI_id": 5095, "geneSymbol": "PCCA", "hgvs": [ "ENST00000376286.8:c.1919T>A" ], "proteinEffect": { "hgvs": "ENSP00000365463.4:p.Met640Lys", "hgvsWellDefined": "ENSP00000365463.4:p.Met640Lys" }, "referenceSequence": "http://reg.genome.network/refseq/RS271089" }, { "coordinates": [ { "allele": "A", "end": 98, "referenceAllele": "T", "start": 97 } ], "gene": "http://reg.genome.network/gene/GN008653", "geneNCBI_id": 5095, "geneSymbol": "PCCA", "hgvs": [ "ENST00000428969.1:c.98T>A" ], "proteinEffect": { "hgvs": "ENSP00000399413.1:p.Met33Lys", "hgvsWellDefined": "ENSP00000399413.1:p.Met33Lys" }, "referenceSequence": "http://reg.genome.network/refseq/RS290444" }, { "coordinates": [ { "allele": "A", "end": 256, "endIntronDirection": "-", "endIntronOffset": 12150, "referenceAllele": "T", "start": 256, "startIntronDirection": "-", "startIntronOffset": 12151 } ], "gene": "http://reg.genome.network/gene/GN008653", "geneNCBI_id": 5095, "geneSymbol": "PCCA", "hgvs": [ "ENST00000458283.5:c.257-12151T>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS304333" }, { "@id": "http://reg.genome.network/allele/PA658825404", "coordinates": [ { "allele": "A", "end": 2103, "referenceAllele": "T", "start": 2102 } ], "gene": "http://reg.genome.network/gene/GN008653", "geneNCBI_id": 5095, "geneSymbol": "PCCA", "hgvs": [ "NM_000282.3:c.1997T>A" ], "proteinEffect": { "hgvs": "NP_000273.2:p.Met666Lys", "hgvsWellDefined": "NP_000273.2:p.Met666Lys" }, "referenceSequence": "http://reg.genome.network/refseq/RS006343" }, { "@id": "http://reg.genome.network/allele/PA2825654258", "coordinates": [ { "allele": "A", "end": 2025, "referenceAllele": "T", "start": 2024 } ], "gene": "http://reg.genome.network/gene/GN008653", "geneNCBI_id": 5095, "geneSymbol": "PCCA", "hgvs": [ "NM_001127692.2:c.1919T>A" ], "proteinEffect": { "hgvs": "NP_001121164.1:p.Met640Lys", "hgvsWellDefined": "NP_001121164.1:p.Met640Lys" }, "referenceSequence": "http://reg.genome.network/refseq/RS011675" }, { "coordinates": [ { "allele": "A", "end": 2005, "endIntronDirection": "-", "endIntronOffset": 12150, "referenceAllele": "T", "start": 2005, "startIntronDirection": "-", "startIntronOffset": 12151 } ], "gene": "http://reg.genome.network/gene/GN008653", "geneNCBI_id": 5095, "geneSymbol": "PCCA", "hgvs": [ "NM_001178004.1:c.1900-12151T>A" ], "proteinEffect": { "hgvs": "NP_001171475.1:n.1900-12151T>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS015800" }, { "coordinates": [ { "allele": "A", "end": 1897, "endIntronDirection": "-", "endIntronOffset": 12150, "referenceAllele": "T", "start": 1897, "startIntronDirection": "-", "startIntronOffset": 12151 } ], "gene": "http://reg.genome.network/gene/GN008653", "geneNCBI_id": 5095, "geneSymbol": "PCCA", "hgvs": [ "XR_931615.1:n.1898-12151T>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS127719" }, { "@id": "http://reg.genome.network/allele/PA2827663639", "coordinates": [ { "allele": "A", "end": 2049, "referenceAllele": "T", "start": 2048 } ], "gene": "http://reg.genome.network/gene/GN008653", "geneNCBI_id": 5095, "geneSymbol": "PCCA", "hgvs": [ "NM_001352605.1:c.1943T>A" ], "proteinEffect": { "hgvs": "NP_001339534.1:p.Met648Lys", "hgvsWellDefined": "NP_001339534.1:p.Met648Lys" }, "referenceSequence": "http://reg.genome.network/refseq/RS521032" }, { "@id": "http://reg.genome.network/allele/PA2827664268", "coordinates": [ { "allele": "A", "end": 1959, "referenceAllele": "T", "start": 1958 } ], "gene": "http://reg.genome.network/gene/GN008653", "geneNCBI_id": 5095, "geneSymbol": "PCCA", "hgvs": [ "NM_001352606.1:c.1853T>A" ], "proteinEffect": { "hgvs": "NP_001339535.1:p.Met618Lys", "hgvsWellDefined": "NP_001339535.1:p.Met618Lys" }, "referenceSequence": "http://reg.genome.network/refseq/RS521033" }, { "coordinates": [ { "allele": "A", "end": 1927, "endIntronDirection": "-", "endIntronOffset": 12150, "referenceAllele": "T", "start": 1927, "startIntronDirection": "-", "startIntronOffset": 12151 } ], "gene": "http://reg.genome.network/gene/GN008653", "geneNCBI_id": 5095, "geneSymbol": "PCCA", "hgvs": [ "NM_001352607.1:c.1822-12151T>A" ], "proteinEffect": { "hgvs": "NP_001339536.1:n.1822-12151T>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS521034" }, { "@id": "http://reg.genome.network/allele/PA2827665476", "coordinates": [ { "allele": "A", "end": 1881, "referenceAllele": "T", "start": 1880 } ], "gene": "http://reg.genome.network/gene/GN008653", "geneNCBI_id": 5095, "geneSymbol": "PCCA", "hgvs": [ "NM_001352608.1:c.1775T>A" ], "proteinEffect": { "hgvs": "NP_001339537.1:p.Met592Lys", "hgvsWellDefined": "NP_001339537.1:p.Met592Lys" }, "referenceSequence": "http://reg.genome.network/refseq/RS521035" }, { "@id": "http://reg.genome.network/allele/PA2827666174", "coordinates": [ { "allele": "A", "end": 2024, "referenceAllele": "T", "start": 2023 } ], "gene": "http://reg.genome.network/gene/GN008653", "geneNCBI_id": 5095, "geneSymbol": "PCCA", "hgvs": [ "NM_001352610.1:c.1052T>A" ], "proteinEffect": { "hgvs": "NP_001339539.1:p.Met351Lys", "hgvsWellDefined": "NP_001339539.1:p.Met351Lys" }, "referenceSequence": "http://reg.genome.network/refseq/RS521037" }, { "@id": "http://reg.genome.network/allele/PA2827666490", "coordinates": [ { "allele": "A", "end": 1970, "referenceAllele": "T", "start": 1969 } ], "gene": "http://reg.genome.network/gene/GN008653", "geneNCBI_id": 5095, "geneSymbol": "PCCA", "hgvs": [ "NM_001352611.1:c.998T>A" ], "proteinEffect": { "hgvs": "NP_001339540.1:p.Met333Lys", "hgvsWellDefined": "NP_001339540.1:p.Met333Lys" }, "referenceSequence": "http://reg.genome.network/refseq/RS521038" }, { "@id": "http://reg.genome.network/allele/PA2827666791", "coordinates": [ { "allele": "A", "end": 1880, "referenceAllele": "T", "start": 1879 } ], "gene": "http://reg.genome.network/gene/GN008653", "geneNCBI_id": 5095, "geneSymbol": "PCCA", "hgvs": [ "NM_001352612.1:c.908T>A" ], "proteinEffect": { "hgvs": "NP_001339541.1:p.Met303Lys", "hgvsWellDefined": "NP_001339541.1:p.Met303Lys" }, "referenceSequence": "http://reg.genome.network/refseq/RS521039" }, { "coordinates": [ { "allele": "A", "end": 2089, "endIntronDirection": "-", "endIntronOffset": 12150, "referenceAllele": "T", "start": 2089, "startIntronDirection": "-", "startIntronOffset": 12151 } ], "gene": "http://reg.genome.network/gene/GN008653", "geneNCBI_id": 5095, "geneSymbol": "PCCA", "hgvs": [ "NR_148027.1:n.2090-12151T>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS531000" }, { "coordinates": [ { "allele": "A", "end": 2084, "referenceAllele": "T", "start": 2083 } ], "gene": "http://reg.genome.network/gene/GN008653", "geneNCBI_id": 5095, "geneSymbol": "PCCA", "hgvs": [ "NR_148028.1:n.2084T>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS531001" }, { "coordinates": [ { "allele": "A", "end": 2006, "referenceAllele": "T", "start": 2005 } ], "gene": "http://reg.genome.network/gene/GN008653", "geneNCBI_id": 5095, "geneSymbol": "PCCA", "hgvs": [ "NR_148029.1:n.2006T>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS531002" }, { "coordinates": [ { "allele": "A", "end": 2187, "referenceAllele": "T", "start": 2186 } ], "gene": "http://reg.genome.network/gene/GN008653", "geneNCBI_id": 5095, "geneSymbol": "PCCA", "hgvs": [ "NR_148030.1:n.2187T>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS531003" }, { "coordinates": [ { "allele": "A", "end": 2000, "referenceAllele": "T", "start": 1999 } ], "gene": "http://reg.genome.network/gene/GN008653", "geneNCBI_id": 5095, "geneSymbol": "PCCA", "hgvs": [ "NR_148031.1:n.2000T>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS531004" }, { "coordinates": [ { "allele": "A", "end": 2011, "referenceAllele": "T", "start": 2010 } ], "gene": "http://reg.genome.network/gene/GN008653", "geneNCBI_id": 5095, "geneSymbol": "PCCA", "hgvs": [ "XM_017020609.1:c.1898T>A" ], "proteinEffect": { "hgvs": "XP_016876098.1:p.Met633Lys", "hgvsWellDefined": "XP_016876098.1:p.Met633Lys" }, "referenceSequence": "http://reg.genome.network/refseq/RS572047" }, { "coordinates": [ { "allele": "A", "end": 2177, "referenceAllele": "T", "start": 2176 } ], "gene": "http://reg.genome.network/gene/GN008653", "geneNCBI_id": 5095, "geneSymbol": "PCCA", "hgvs": [ "XM_017020612.1:c.*30T>A" ], "proteinEffect": { "hgvs": "XP_016876101.1:n.*30T>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS572049" }, { "coordinates": [ { "allele": "A", "end": 2079, "endIntronDirection": "-", "endIntronOffset": 12150, "referenceAllele": "T", "start": 2079, "startIntronDirection": "-", "startIntronOffset": 12151 } ], "gene": "http://reg.genome.network/gene/GN008653", "geneNCBI_id": 5095, "geneSymbol": "PCCA", "hgvs": [ "XM_017020613.1:c.1979-12151T>A" ], "proteinEffect": { "hgvs": "XP_016876102.1:n.1979-12151T>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS572050" }, { "coordinates": [ { "allele": "A", "end": 2177, "referenceAllele": "T", "start": 2176 } ], "gene": "http://reg.genome.network/gene/GN008653", "geneNCBI_id": 5095, "geneSymbol": "PCCA", "hgvs": [ "XR_001749567.1:n.2177T>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS597329" }, { "coordinates": [ { "allele": "A", "end": 2264, "referenceAllele": "T", "start": 2263 } ], "gene": "http://reg.genome.network/gene/GN008653", "geneNCBI_id": 5095, "geneSymbol": "PCCA", "hgvs": [ "XR_001749568.1:n.2264T>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS597330" }, { "coordinates": [ { "allele": "A", "end": 2166, "endIntronDirection": "-", "endIntronOffset": 12150, "referenceAllele": "T", "start": 2166, "startIntronDirection": "-", "startIntronOffset": 12151 } ], "gene": "http://reg.genome.network/gene/GN008653", "geneNCBI_id": 5095, "geneSymbol": "PCCA", "hgvs": [ "XR_001749569.1:n.2167-12151T>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS597331" }, { "coordinates": [ { "allele": "A", "end": 2033, "referenceAllele": "T", "start": 2032 } ], "gene": "http://reg.genome.network/gene/GN008653", "geneNCBI_id": 5095, "geneSymbol": "PCCA", "hgvs": [ "XR_001749574.1:n.2033T>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS597332" }, { "coordinates": [ { "allele": "A", "end": 1734, "referenceAllele": "T", "start": 1733 } ], "gene": "http://reg.genome.network/gene/GN008653", "geneNCBI_id": 5095, "geneSymbol": "PCCA", "hgvs": [ "XR_001749576.1:n.1734T>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS597333" }, { "coordinates": [ { "allele": "A", "end": 1631, "referenceAllele": "T", "start": 1630 } ], "gene": "http://reg.genome.network/gene/GN008653", "geneNCBI_id": 5095, "geneSymbol": "PCCA", "hgvs": [ "XR_001749577.1:n.1631T>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS597334" }, { "@id": "http://reg.genome.network/allele/PA658825404", "coordinates": [ { "allele": "A", "end": 2025, "referenceAllele": "T", "start": 2024 } ], "gene": "http://reg.genome.network/gene/GN008653", "geneNCBI_id": 5095, "geneSymbol": "PCCA", "hgvs": [ "NM_000282.4:c.1997T>A" ], "proteinEffect": { "hgvs": "NP_000273.2:p.Met666Lys", "hgvsWellDefined": "NP_000273.2:p.Met666Lys" }, "referenceSequence": "http://reg.genome.network/refseq/RS662383", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000376285.6:c.1997T>A" }, "RefSeq": { "hgvs": "NM_000282.4:c.1997T>A" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000365462.1:p.Met666Lys" }, "RefSeq": { "hgvs": "NP_000273.2:p.Met666Lys" } } } }, { "@id": "http://reg.genome.network/allele/PA2827663639", "coordinates": [ { "allele": "A", "end": 1971, "referenceAllele": "T", "start": 1970 } ], "gene": "http://reg.genome.network/gene/GN008653", "geneNCBI_id": 5095, "geneSymbol": "PCCA", "hgvs": [ "NM_001352605.2:c.1943T>A" ], "proteinEffect": { "hgvs": "NP_001339534.1:p.Met648Lys", "hgvsWellDefined": "NP_001339534.1:p.Met648Lys" }, "referenceSequence": "http://reg.genome.network/refseq/RS689319" }, { "@id": "http://reg.genome.network/allele/PA2827664268", "coordinates": [ { "allele": "A", "end": 1881, "referenceAllele": "T", "start": 1880 } ], "gene": "http://reg.genome.network/gene/GN008653", "geneNCBI_id": 5095, "geneSymbol": "PCCA", "hgvs": [ "NM_001352606.2:c.1853T>A" ], "proteinEffect": { "hgvs": "NP_001339535.1:p.Met618Lys", "hgvsWellDefined": "NP_001339535.1:p.Met618Lys" }, "referenceSequence": "http://reg.genome.network/refseq/RS689320" }, { "coordinates": [ { "allele": "A", "end": 1849, "endIntronDirection": "-", "endIntronOffset": 12150, "referenceAllele": "T", "start": 1849, "startIntronDirection": "-", "startIntronOffset": 12151 } ], "gene": "http://reg.genome.network/gene/GN008653", "geneNCBI_id": 5095, "geneSymbol": "PCCA", "hgvs": [ "NM_001352607.2:c.1822-12151T>A" ], "proteinEffect": { "hgvs": "NP_001339536.1:n.1822-12151T>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS689321" }, { "@id": "http://reg.genome.network/allele/PA2827665476", "coordinates": [ { "allele": "A", "end": 1803, "referenceAllele": "T", "start": 1802 } ], "gene": "http://reg.genome.network/gene/GN008653", "geneNCBI_id": 5095, "geneSymbol": "PCCA", "hgvs": [ "NM_001352608.2:c.1775T>A" ], "proteinEffect": { "hgvs": "NP_001339537.1:p.Met592Lys", "hgvsWellDefined": "NP_001339537.1:p.Met592Lys" }, "referenceSequence": "http://reg.genome.network/refseq/RS689322" }, { "@id": "http://reg.genome.network/allele/PA2827666174", "coordinates": [ { "allele": "A", "end": 1946, "referenceAllele": "T", "start": 1945 } ], "gene": "http://reg.genome.network/gene/GN008653", "geneNCBI_id": 5095, "geneSymbol": "PCCA", "hgvs": [ "NM_001352610.2:c.1052T>A" ], "proteinEffect": { "hgvs": "NP_001339539.1:p.Met351Lys", "hgvsWellDefined": "NP_001339539.1:p.Met351Lys" }, "referenceSequence": "http://reg.genome.network/refseq/RS689324" }, { "@id": "http://reg.genome.network/allele/PA2827666490", "coordinates": [ { "allele": "A", "end": 1892, "referenceAllele": "T", "start": 1891 } ], "gene": "http://reg.genome.network/gene/GN008653", "geneNCBI_id": 5095, "geneSymbol": "PCCA", "hgvs": [ "NM_001352611.2:c.998T>A" ], "proteinEffect": { "hgvs": "NP_001339540.1:p.Met333Lys", "hgvsWellDefined": "NP_001339540.1:p.Met333Lys" }, "referenceSequence": "http://reg.genome.network/refseq/RS689325" }, { "@id": "http://reg.genome.network/allele/PA2827666791", "coordinates": [ { "allele": "A", "end": 1802, "referenceAllele": "T", "start": 1801 } ], "gene": "http://reg.genome.network/gene/GN008653", "geneNCBI_id": 5095, "geneSymbol": "PCCA", "hgvs": [ "NM_001352612.2:c.908T>A" ], "proteinEffect": { "hgvs": "NP_001339541.1:p.Met303Lys", "hgvsWellDefined": "NP_001339541.1:p.Met303Lys" }, "referenceSequence": "http://reg.genome.network/refseq/RS689326" }, { "coordinates": [ { "allele": "A", "end": 2011, "endIntronDirection": "-", "endIntronOffset": 12150, "referenceAllele": "T", "start": 2011, "startIntronDirection": "-", "startIntronOffset": 12151 } ], "gene": "http://reg.genome.network/gene/GN008653", "geneNCBI_id": 5095, "geneSymbol": "PCCA", "hgvs": [ "NR_148027.2:n.2012-12151T>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS704674" }, { "coordinates": [ { "allele": "A", "end": 2006, "referenceAllele": "T", "start": 2005 } ], "gene": "http://reg.genome.network/gene/GN008653", "geneNCBI_id": 5095, "geneSymbol": "PCCA", "hgvs": [ "NR_148028.2:n.2006T>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS704675" }, { "coordinates": [ { "allele": "A", "end": 1928, "referenceAllele": "T", "start": 1927 } ], "gene": "http://reg.genome.network/gene/GN008653", "geneNCBI_id": 5095, "geneSymbol": "PCCA", "hgvs": [ "NR_148029.2:n.1928T>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS704676" }, { "coordinates": [ { "allele": "A", "end": 2109, "referenceAllele": "T", "start": 2108 } ], "gene": "http://reg.genome.network/gene/GN008653", "geneNCBI_id": 5095, "geneSymbol": "PCCA", "hgvs": [ "NR_148030.2:n.2109T>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS704677" }, { "coordinates": [ { "allele": "A", "end": 1922, "referenceAllele": "T", "start": 1921 } ], "gene": "http://reg.genome.network/gene/GN008653", "geneNCBI_id": 5095, "geneSymbol": "PCCA", "hgvs": [ "NR_148031.2:n.1922T>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS704678" }, { "@id": "http://reg.genome.network/allele/PA2825654258", "coordinates": [ { "allele": "A", "end": 1947, "referenceAllele": "T", "start": 1946 } ], "gene": "http://reg.genome.network/gene/GN008653", "geneNCBI_id": 5095, "geneSymbol": "PCCA", "hgvs": [ "NM_001127692.3:c.1919T>A" ], "proteinEffect": { "hgvs": "NP_001121164.1:p.Met640Lys", "hgvsWellDefined": "NP_001121164.1:p.Met640Lys" }, "referenceSequence": "http://reg.genome.network/refseq/RS712226" }, { "coordinates": [ { "allele": "A", "end": 1927, "endIntronDirection": "-", "endIntronOffset": 12150, "referenceAllele": "T", "start": 1927, "startIntronDirection": "-", "startIntronOffset": 12151 } ], "gene": "http://reg.genome.network/gene/GN008653", "geneNCBI_id": 5095, "geneSymbol": "PCCA", "hgvs": [ "NM_001178004.2:c.1900-12151T>A" ], "proteinEffect": { "hgvs": "NP_001171475.1:n.1900-12151T>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS713545" } ], "type": "nucleotide" }