{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA343124", "communityStandardTitle": [ "NM_000282.4(PCCA):c.491T>C (p.Ile164Thr)" ], "externalRecords": { "ClinVarAlleles": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=47473[alleleid]", "alleleId": 47473, "preferredName": "NM_000282.4(PCCA):c.491T>C (p.Ile164Thr)" } ], "ClinVarVariations": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/38868", "RCV": [ "RCV000032111" ], "variationId": 38868 } ], "MyVariantInfo_hg19": [ { "@id": "http://myvariant.info/v1/variant/chr13:g.100861608T>C?assembly=hg19", "id": "chr13:g.100861608T>C" } ], "MyVariantInfo_hg38": [ { "@id": "http://myvariant.info/v1/variant/chr13:g.100209354T>C?assembly=hg38", "id": "chr13:g.100209354T>C" } ], "dbSNP": [ { "@id": "http://www.ncbi.nlm.nih.gov/snp/202247815", "rs": 202247815 } ], "gnomAD_2": [ { "@id": "http://gnomad.broadinstitute.org/variant/13-100861608-T-C?dataset=gnomad_r2_1", "id": "13-100861608-T-C", "variant": "13:100861608 T / C" } ], "gnomAD_3": [ { "@id": "http://gnomad.broadinstitute.org/variant/13-100209354-T-C?dataset=gnomad_r3", "id": "13-100209354-T-C", "variant": "13:100209354 T / C" } ], "gnomAD_4": [ { "@id": "http://gnomad.broadinstitute.org/variant/13-100209354-T-C?dataset=gnomad_r4", "id": "13-100209354-T-C", "variant": "13:100209354 T / C" } ] }, "genomicAlleles": [ { "chromosome": "13", "coordinates": [ { "allele": "C", "end": 100209354, "referenceAllele": "T", "start": 100209353 } ], "hgvs": [ "NC_000013.11:g.100209354T>C", "CM000675.2:g.100209354T>C" ], "referenceGenome": "GRCh38", "referenceSequence": "http://reg.genome.network/refseq/RS000061" }, { "chromosome": "13", "coordinates": [ { "allele": "C", "end": 100861608, "referenceAllele": "T", "start": 100861607 } ], "hgvs": [ "NC_000013.10:g.100861608T>C", "CM000675.1:g.100861608T>C" ], "referenceGenome": "GRCh37", "referenceSequence": "http://reg.genome.network/refseq/RS000037" }, { "chromosome": "13", "coordinates": [ { "allele": "C", "end": 99659609, "referenceAllele": "T", "start": 99659608 } ], "hgvs": [ "NC_000013.9:g.99659609T>C" ], "referenceGenome": "NCBI36", "referenceSequence": "http://reg.genome.network/refseq/RS000013" }, { "coordinates": [ { "allele": "C", "end": 125272, "referenceAllele": "T", "start": 125271 } ], "hgvs": [ "NG_008768.1:g.125272T>C" ], "referenceSequence": "http://reg.genome.network/refseq/RS001207" } ], "transcriptAlleles": [ { "coordinates": [ { "allele": "C", "end": 519, "referenceAllele": "T", "start": 518 } ], "gene": "http://reg.genome.network/gene/GN008653", "geneNCBI_id": 5095, "geneSymbol": "PCCA", "hgvs": [ "ENST00000376285.6:c.491T>C" ], "proteinEffect": { "hgvs": "ENSP00000365462.1:p.Ile164Thr", "hgvsWellDefined": "ENSP00000365462.1:p.Ile164Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS751741", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000376285.6:c.491T>C" }, "RefSeq": { "hgvs": "NM_000282.4:c.491T>C" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000365462.1:p.Ile164Thr" }, "RefSeq": { "hgvs": "NP_000273.2:p.Ile164Thr" } } } }, { "coordinates": [ { "allele": "C", "end": 370, "referenceAllele": "T", "start": 369 } ], "gene": "http://reg.genome.network/gene/GN008653", "geneNCBI_id": 5095, "geneSymbol": "PCCA", "hgvs": [ "ENST00000636366.1:c.370T>C" ], "referenceSequence": "http://reg.genome.network/refseq/RS763062" }, { "coordinates": [ { "allele": "C", "end": 370, "referenceAllele": "T", "start": 369 } ], "gene": "http://reg.genome.network/gene/GN008653", "geneNCBI_id": 5095, "geneSymbol": "PCCA", "hgvs": [ "ENST00000636420.1:c.370T>C" ], "referenceSequence": "http://reg.genome.network/refseq/RS763101" }, { "coordinates": [ { "allele": "C", "end": 370, "referenceAllele": "T", "start": 369 } ], "gene": "http://reg.genome.network/gene/GN008653", "geneNCBI_id": 5095, "geneSymbol": "PCCA", "hgvs": [ "ENST00000636475.1:c.370T>C" ], "referenceSequence": "http://reg.genome.network/refseq/RS763141" }, { "coordinates": [ { "allele": "C", "end": 370, "referenceAllele": "T", "start": 369 } ], "gene": "http://reg.genome.network/gene/GN008653", "geneNCBI_id": 5095, "geneSymbol": "PCCA", "hgvs": [ "ENST00000637358.1:c.370T>C" ], "referenceSequence": "http://reg.genome.network/refseq/RS763809" }, { "coordinates": [ { "allele": "C", "end": 370, "referenceAllele": "T", "start": 369 } ], "gene": "http://reg.genome.network/gene/GN008653", "geneNCBI_id": 5095, "geneSymbol": "PCCA", "hgvs": [ "ENST00000637657.1:c.370T>C" ], "referenceSequence": "http://reg.genome.network/refseq/RS764019" }, { "coordinates": [ { "allele": "C", "end": 609, "referenceAllele": "T", "start": 608 } ], "gene": "http://reg.genome.network/gene/GN008653", "geneNCBI_id": 5095, "geneSymbol": "PCCA", "hgvs": [ "ENST00000647303.1:c.*339T>C" ], "proteinEffect": { "hgvs": "ENSP00000495663.1:n.*339T>C" }, "referenceSequence": "http://reg.genome.network/refseq/RS769340" }, { "coordinates": [ { "allele": "C", "end": 597, "referenceAllele": "T", "start": 596 } ], "gene": "http://reg.genome.network/gene/GN008653", "geneNCBI_id": 5095, "geneSymbol": "PCCA", "hgvs": [ "ENST00000376279.7:c.491T>C" ], "proteinEffect": { "hgvs": "ENSP00000365456.3:p.Ile164Thr", "hgvsWellDefined": "ENSP00000365456.3:p.Ile164Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS271086" }, { "coordinates": [ { "allele": "C", "end": 529, "referenceAllele": "T", "start": 528 } ], "gene": "http://reg.genome.network/gene/GN008653", "geneNCBI_id": 5095, "geneSymbol": "PCCA", "hgvs": [ "ENST00000376285.5:c.491T>C" ], "proteinEffect": { "hgvs": "ENSP00000365462.1:p.Ile164Thr", "hgvsWellDefined": "ENSP00000365462.1:p.Ile164Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS271088" }, { "coordinates": [ { "allele": "C", "end": 519, "referenceAllele": "T", "start": 518 } ], "gene": "http://reg.genome.network/gene/GN008653", "geneNCBI_id": 5095, "geneSymbol": "PCCA", "hgvs": [ "ENST00000376286.8:c.413T>C" ], "proteinEffect": { "hgvs": "ENSP00000365463.4:p.Ile138Thr", "hgvsWellDefined": "ENSP00000365463.4:p.Ile138Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS271089" }, { "@id": "http://reg.genome.network/allele/PA107390", "coordinates": [ { "allele": "C", "end": 597, "referenceAllele": "T", "start": 596 } ], "gene": "http://reg.genome.network/gene/GN008653", "geneNCBI_id": 5095, "geneSymbol": "PCCA", "hgvs": [ "NM_000282.3:c.491T>C" ], "proteinEffect": { "hgvs": "NP_000273.2:p.Ile164Thr", "hgvsWellDefined": "NP_000273.2:p.Ile164Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS006343" }, { "@id": "http://reg.genome.network/allele/PA2825653784", "coordinates": [ { "allele": "C", "end": 519, "referenceAllele": "T", "start": 518 } ], "gene": "http://reg.genome.network/gene/GN008653", "geneNCBI_id": 5095, "geneSymbol": "PCCA", "hgvs": [ "NM_001127692.2:c.413T>C" ], "proteinEffect": { "hgvs": "NP_001121164.1:p.Ile138Thr", "hgvsWellDefined": "NP_001121164.1:p.Ile138Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS011675" }, { "@id": "http://reg.genome.network/allele/PA2826131474", "coordinates": [ { "allele": "C", "end": 597, "referenceAllele": "T", "start": 596 } ], "gene": "http://reg.genome.network/gene/GN008653", "geneNCBI_id": 5095, "geneSymbol": "PCCA", "hgvs": [ "NM_001178004.1:c.491T>C" ], "proteinEffect": { "hgvs": "NP_001171475.1:p.Ile164Thr", "hgvsWellDefined": "NP_001171475.1:p.Ile164Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS015800" }, { "coordinates": [ { "allele": "C", "end": 592, "referenceAllele": "T", "start": 591 } ], "gene": "http://reg.genome.network/gene/GN008653", "geneNCBI_id": 5095, "geneSymbol": "PCCA", "hgvs": [ "XM_005254059.2:c.491T>C" ], "proteinEffect": { "hgvs": "XP_005254116.1:p.Ile164Thr", "hgvsWellDefined": "XP_005254116.1:p.Ile164Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS060486" }, { "coordinates": [ { "allele": "C", "end": 592, "referenceAllele": "T", "start": 591 } ], "gene": "http://reg.genome.network/gene/GN008653", "geneNCBI_id": 5095, "geneSymbol": "PCCA", "hgvs": [ "XM_011521093.1:c.491T>C" ], "proteinEffect": { "hgvs": "XP_011519395.1:p.Ile164Thr", "hgvsWellDefined": "XP_011519395.1:p.Ile164Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS088257" }, { "coordinates": [ { "allele": "C", "end": 592, "referenceAllele": "T", "start": 591 } ], "gene": "http://reg.genome.network/gene/GN008653", "geneNCBI_id": 5095, "geneSymbol": "PCCA", "hgvs": [ "XR_931615.1:n.592T>C" ], "referenceSequence": "http://reg.genome.network/refseq/RS127719" }, { "coordinates": [ { "allele": "C", "end": 592, "referenceAllele": "T", "start": 591 } ], "gene": "http://reg.genome.network/gene/GN008653", "geneNCBI_id": 5095, "geneSymbol": "PCCA", "hgvs": [ "XR_931616.1:n.592T>C" ], "referenceSequence": "http://reg.genome.network/refseq/RS127720" }, { "@id": "http://reg.genome.network/allele/PA2827663184", "coordinates": [ { "allele": "C", "end": 597, "referenceAllele": "T", "start": 596 } ], "gene": "http://reg.genome.network/gene/GN008653", "geneNCBI_id": 5095, "geneSymbol": "PCCA", "hgvs": [ "NM_001352605.1:c.491T>C" ], "proteinEffect": { "hgvs": "NP_001339534.1:p.Ile164Thr", "hgvsWellDefined": "NP_001339534.1:p.Ile164Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS521032" }, { "@id": "http://reg.genome.network/allele/PA2827663847", "coordinates": [ { "allele": "C", "end": 597, "referenceAllele": "T", "start": 596 } ], "gene": "http://reg.genome.network/gene/GN008653", "geneNCBI_id": 5095, "geneSymbol": "PCCA", "hgvs": [ "NM_001352606.1:c.491T>C" ], "proteinEffect": { "hgvs": "NP_001339535.1:p.Ile164Thr", "hgvsWellDefined": "NP_001339535.1:p.Ile164Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS521033" }, { "@id": "http://reg.genome.network/allele/PA2827664456", "coordinates": [ { "allele": "C", "end": 519, "referenceAllele": "T", "start": 518 } ], "gene": "http://reg.genome.network/gene/GN008653", "geneNCBI_id": 5095, "geneSymbol": "PCCA", "hgvs": [ "NM_001352607.1:c.413T>C" ], "proteinEffect": { "hgvs": "NP_001339536.1:p.Ile138Thr", "hgvsWellDefined": "NP_001339536.1:p.Ile138Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS521034" }, { "@id": "http://reg.genome.network/allele/PA2827665055", "coordinates": [ { "allele": "C", "end": 519, "referenceAllele": "T", "start": 518 } ], "gene": "http://reg.genome.network/gene/GN008653", "geneNCBI_id": 5095, "geneSymbol": "PCCA", "hgvs": [ "NM_001352608.1:c.413T>C" ], "proteinEffect": { "hgvs": "NP_001339537.1:p.Ile138Thr", "hgvsWellDefined": "NP_001339537.1:p.Ile138Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS521035" }, { "@id": "http://reg.genome.network/allele/PA916035529", "coordinates": [ { "allele": "C", "end": 597, "referenceAllele": "T", "start": 596 } ], "gene": "http://reg.genome.network/gene/GN008653", "geneNCBI_id": 5095, "geneSymbol": "PCCA", "hgvs": [ "NM_001352609.1:c.491T>C" ], "proteinEffect": { "hgvs": "NP_001339538.1:p.Ile164Thr", "hgvsWellDefined": "NP_001339538.1:p.Ile164Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS521036" }, { "coordinates": [ { "allele": "C", "end": 597, "referenceAllele": "T", "start": 596 } ], "gene": "http://reg.genome.network/gene/GN008653", "geneNCBI_id": 5095, "geneSymbol": "PCCA", "hgvs": [ "NM_001352610.1:c.-376T>C" ], "proteinEffect": { "hgvs": "NP_001339539.1:n.-376T>C" }, "referenceSequence": "http://reg.genome.network/refseq/RS521037" }, { "coordinates": [ { "allele": "C", "end": 597, "referenceAllele": "T", "start": 596 } ], "gene": "http://reg.genome.network/gene/GN008653", "geneNCBI_id": 5095, "geneSymbol": "PCCA", "hgvs": [ "NM_001352611.1:c.-376T>C" ], "proteinEffect": { "hgvs": "NP_001339540.1:n.-376T>C" }, "referenceSequence": "http://reg.genome.network/refseq/RS521038" }, { "coordinates": [ { "allele": "C", "end": 597, "referenceAllele": "T", "start": 596 } ], "gene": "http://reg.genome.network/gene/GN008653", "geneNCBI_id": 5095, "geneSymbol": "PCCA", "hgvs": [ "NM_001352612.1:c.-376T>C" ], "proteinEffect": { "hgvs": "NP_001339541.1:n.-376T>C" }, "referenceSequence": "http://reg.genome.network/refseq/RS521039" }, { "coordinates": [ { "allele": "C", "end": 597, "referenceAllele": "T", "start": 596 } ], "gene": "http://reg.genome.network/gene/GN008653", "geneNCBI_id": 5095, "geneSymbol": "PCCA", "hgvs": [ "NR_148027.1:n.597T>C" ], "referenceSequence": "http://reg.genome.network/refseq/RS531000" }, { "coordinates": [ { "allele": "C", "end": 597, "referenceAllele": "T", "start": 596 } ], "gene": "http://reg.genome.network/gene/GN008653", "geneNCBI_id": 5095, "geneSymbol": "PCCA", "hgvs": [ "NR_148028.1:n.597T>C" ], "referenceSequence": "http://reg.genome.network/refseq/RS531001" }, { "coordinates": [ { "allele": "C", "end": 519, "referenceAllele": "T", "start": 518 } ], "gene": "http://reg.genome.network/gene/GN008653", "geneNCBI_id": 5095, "geneSymbol": "PCCA", "hgvs": [ "NR_148029.1:n.519T>C" ], "referenceSequence": "http://reg.genome.network/refseq/RS531002" }, { "coordinates": [ { "allele": "C", "end": 597, "referenceAllele": "T", "start": 596 } ], "gene": "http://reg.genome.network/gene/GN008653", "geneNCBI_id": 5095, "geneSymbol": "PCCA", "hgvs": [ "NR_148030.1:n.597T>C" ], "referenceSequence": "http://reg.genome.network/refseq/RS531003" }, { "coordinates": [ { "allele": "C", "end": 597, "referenceAllele": "T", "start": 596 } ], "gene": "http://reg.genome.network/gene/GN008653", "geneNCBI_id": 5095, "geneSymbol": "PCCA", "hgvs": [ "NR_148031.1:n.597T>C" ], "referenceSequence": "http://reg.genome.network/refseq/RS531004" }, { "coordinates": [ { "allele": "C", "end": 592, "referenceAllele": "T", "start": 591 } ], "gene": "http://reg.genome.network/gene/GN008653", "geneNCBI_id": 5095, "geneSymbol": "PCCA", "hgvs": [ "XM_017020605.1:c.491T>C" ], "proteinEffect": { "hgvs": "XP_016876094.1:p.Ile164Thr", "hgvsWellDefined": "XP_016876094.1:p.Ile164Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS572044" }, { "coordinates": [ { "allele": "C", "end": 443, "referenceAllele": "T", "start": 442 } ], "gene": "http://reg.genome.network/gene/GN008653", "geneNCBI_id": 5095, "geneSymbol": "PCCA", "hgvs": [ "XM_017020606.1:c.413T>C" ], "proteinEffect": { "hgvs": "XP_016876095.1:p.Ile138Thr", "hgvsWellDefined": "XP_016876095.1:p.Ile138Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS572045" }, { "coordinates": [ { "allele": "C", "end": 408, "referenceAllele": "T", "start": 407 } ], "gene": "http://reg.genome.network/gene/GN008653", "geneNCBI_id": 5095, "geneSymbol": "PCCA", "hgvs": [ "XM_017020607.1:c.392T>C" ], "proteinEffect": { "hgvs": "XP_016876096.1:p.Ile131Thr", "hgvsWellDefined": "XP_016876096.1:p.Ile131Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS572046" }, { "coordinates": [ { "allele": "C", "end": 505, "referenceAllele": "T", "start": 504 } ], "gene": "http://reg.genome.network/gene/GN008653", "geneNCBI_id": 5095, "geneSymbol": "PCCA", "hgvs": [ "XM_017020609.1:c.392T>C" ], "proteinEffect": { "hgvs": "XP_016876098.1:p.Ile131Thr", "hgvsWellDefined": "XP_016876098.1:p.Ile131Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS572047" }, { "coordinates": [ { "allele": "C", "end": 592, "referenceAllele": "T", "start": 591 } ], "gene": "http://reg.genome.network/gene/GN008653", "geneNCBI_id": 5095, "geneSymbol": "PCCA", "hgvs": [ "XM_017020611.1:c.491T>C" ], "proteinEffect": { "hgvs": "XP_016876100.1:p.Ile164Thr", "hgvsWellDefined": "XP_016876100.1:p.Ile164Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS572048" }, { "coordinates": [ { "allele": "C", "end": 592, "referenceAllele": "T", "start": 591 } ], "gene": "http://reg.genome.network/gene/GN008653", "geneNCBI_id": 5095, "geneSymbol": "PCCA", "hgvs": [ "XM_017020612.1:c.491T>C" ], "proteinEffect": { "hgvs": "XP_016876101.1:p.Ile164Thr", "hgvsWellDefined": "XP_016876101.1:p.Ile164Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS572049" }, { "coordinates": [ { "allele": "C", "end": 592, "referenceAllele": "T", "start": 591 } ], "gene": "http://reg.genome.network/gene/GN008653", "geneNCBI_id": 5095, "geneSymbol": "PCCA", "hgvs": [ "XM_017020613.1:c.491T>C" ], "proteinEffect": { "hgvs": "XP_016876102.1:p.Ile164Thr", "hgvsWellDefined": "XP_016876102.1:p.Ile164Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS572050" }, { "coordinates": [ { "allele": "C", "end": 592, "referenceAllele": "T", "start": 591 } ], "gene": "http://reg.genome.network/gene/GN008653", "geneNCBI_id": 5095, "geneSymbol": "PCCA", "hgvs": [ "XM_017020615.1:c.491T>C" ], "proteinEffect": { "hgvs": "XP_016876104.1:p.Ile164Thr", "hgvsWellDefined": "XP_016876104.1:p.Ile164Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS572051" }, { "coordinates": [ { "allele": "C", "end": 592, "referenceAllele": "T", "start": 591 } ], "gene": "http://reg.genome.network/gene/GN008653", "geneNCBI_id": 5095, "geneSymbol": "PCCA", "hgvs": [ "XM_017020616.1:c.491T>C" ], "proteinEffect": { "hgvs": "XP_016876105.1:p.Ile164Thr", "hgvsWellDefined": "XP_016876105.1:p.Ile164Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS572052" }, { "coordinates": [ { "allele": "C", "end": 592, "referenceAllele": "T", "start": 591 } ], "gene": "http://reg.genome.network/gene/GN008653", "geneNCBI_id": 5095, "geneSymbol": "PCCA", "hgvs": [ "XR_001749567.1:n.592T>C" ], "referenceSequence": "http://reg.genome.network/refseq/RS597329" }, { "coordinates": [ { "allele": "C", "end": 592, "referenceAllele": "T", "start": 591 } ], "gene": "http://reg.genome.network/gene/GN008653", "geneNCBI_id": 5095, "geneSymbol": "PCCA", "hgvs": [ "XR_001749568.1:n.592T>C" ], "referenceSequence": "http://reg.genome.network/refseq/RS597330" }, { "coordinates": [ { "allele": "C", "end": 592, "referenceAllele": "T", "start": 591 } ], "gene": "http://reg.genome.network/gene/GN008653", "geneNCBI_id": 5095, "geneSymbol": "PCCA", "hgvs": [ "XR_001749569.1:n.592T>C" ], "referenceSequence": "http://reg.genome.network/refseq/RS597331" }, { "coordinates": [ { "allele": "C", "end": 443, "referenceAllele": "T", "start": 442 } ], "gene": "http://reg.genome.network/gene/GN008653", "geneNCBI_id": 5095, "geneSymbol": "PCCA", "hgvs": [ "XR_001749574.1:n.443T>C" ], "referenceSequence": "http://reg.genome.network/refseq/RS597332" }, { "coordinates": [ { "allele": "C", "end": 592, "referenceAllele": "T", "start": 591 } ], "gene": "http://reg.genome.network/gene/GN008653", "geneNCBI_id": 5095, "geneSymbol": "PCCA", "hgvs": [ "XR_001749576.1:n.592T>C" ], "referenceSequence": "http://reg.genome.network/refseq/RS597333" }, { "coordinates": [ { "allele": "C", "end": 592, "referenceAllele": "T", "start": 591 } ], "gene": "http://reg.genome.network/gene/GN008653", "geneNCBI_id": 5095, "geneSymbol": "PCCA", "hgvs": [ "XR_001749577.1:n.592T>C" ], "referenceSequence": "http://reg.genome.network/refseq/RS597334" }, { "@id": "http://reg.genome.network/allele/PA107390", "coordinates": [ { "allele": "C", "end": 519, "referenceAllele": "T", "start": 518 } ], "gene": "http://reg.genome.network/gene/GN008653", "geneNCBI_id": 5095, "geneSymbol": "PCCA", "hgvs": [ "NM_000282.4:c.491T>C" ], "proteinEffect": { "hgvs": "NP_000273.2:p.Ile164Thr", "hgvsWellDefined": "NP_000273.2:p.Ile164Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS662383", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000376285.6:c.491T>C" }, "RefSeq": { "hgvs": "NM_000282.4:c.491T>C" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000365462.1:p.Ile164Thr" }, "RefSeq": { "hgvs": "NP_000273.2:p.Ile164Thr" } } } }, { "@id": "http://reg.genome.network/allele/PA2827663184", "coordinates": [ { "allele": "C", "end": 519, "referenceAllele": "T", "start": 518 } ], "gene": "http://reg.genome.network/gene/GN008653", "geneNCBI_id": 5095, "geneSymbol": "PCCA", "hgvs": [ "NM_001352605.2:c.491T>C" ], "proteinEffect": { "hgvs": "NP_001339534.1:p.Ile164Thr", "hgvsWellDefined": "NP_001339534.1:p.Ile164Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS689319" }, { "@id": "http://reg.genome.network/allele/PA2827663847", "coordinates": [ { "allele": "C", "end": 519, "referenceAllele": "T", "start": 518 } ], "gene": "http://reg.genome.network/gene/GN008653", "geneNCBI_id": 5095, "geneSymbol": "PCCA", "hgvs": [ "NM_001352606.2:c.491T>C" ], "proteinEffect": { "hgvs": "NP_001339535.1:p.Ile164Thr", "hgvsWellDefined": "NP_001339535.1:p.Ile164Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS689320" }, { "@id": "http://reg.genome.network/allele/PA2827664456", "coordinates": [ { "allele": "C", "end": 441, "referenceAllele": "T", "start": 440 } ], "gene": "http://reg.genome.network/gene/GN008653", "geneNCBI_id": 5095, "geneSymbol": "PCCA", "hgvs": [ "NM_001352607.2:c.413T>C" ], "proteinEffect": { "hgvs": "NP_001339536.1:p.Ile138Thr", "hgvsWellDefined": "NP_001339536.1:p.Ile138Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS689321" }, { "@id": "http://reg.genome.network/allele/PA2827665055", "coordinates": [ { "allele": "C", "end": 441, "referenceAllele": "T", "start": 440 } ], "gene": "http://reg.genome.network/gene/GN008653", "geneNCBI_id": 5095, "geneSymbol": "PCCA", "hgvs": [ "NM_001352608.2:c.413T>C" ], "proteinEffect": { "hgvs": "NP_001339537.1:p.Ile138Thr", "hgvsWellDefined": "NP_001339537.1:p.Ile138Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS689322" }, { "@id": "http://reg.genome.network/allele/PA916035529", "coordinates": [ { "allele": "C", "end": 519, "referenceAllele": "T", "start": 518 } ], "gene": "http://reg.genome.network/gene/GN008653", "geneNCBI_id": 5095, "geneSymbol": "PCCA", "hgvs": [ "NM_001352609.2:c.491T>C" ], "proteinEffect": { "hgvs": "NP_001339538.1:p.Ile164Thr", "hgvsWellDefined": "NP_001339538.1:p.Ile164Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS689323" }, { "coordinates": [ { "allele": "C", "end": 519, "referenceAllele": "T", "start": 518 } ], "gene": "http://reg.genome.network/gene/GN008653", "geneNCBI_id": 5095, "geneSymbol": "PCCA", "hgvs": [ "NM_001352610.2:c.-376T>C" ], "proteinEffect": { "hgvs": "NP_001339539.1:n.-376T>C" }, "referenceSequence": "http://reg.genome.network/refseq/RS689324" }, { "coordinates": [ { "allele": "C", "end": 519, "referenceAllele": "T", "start": 518 } ], "gene": "http://reg.genome.network/gene/GN008653", "geneNCBI_id": 5095, "geneSymbol": "PCCA", "hgvs": [ "NM_001352611.2:c.-376T>C" ], "proteinEffect": { "hgvs": "NP_001339540.1:n.-376T>C" }, "referenceSequence": "http://reg.genome.network/refseq/RS689325" }, { "coordinates": [ { "allele": "C", "end": 519, "referenceAllele": "T", "start": 518 } ], "gene": "http://reg.genome.network/gene/GN008653", "geneNCBI_id": 5095, "geneSymbol": "PCCA", "hgvs": [ "NM_001352612.2:c.-376T>C" ], "proteinEffect": { "hgvs": "NP_001339541.1:n.-376T>C" }, "referenceSequence": "http://reg.genome.network/refseq/RS689326" }, { "coordinates": [ { "allele": "C", "end": 519, "referenceAllele": "T", "start": 518 } ], "gene": "http://reg.genome.network/gene/GN008653", "geneNCBI_id": 5095, "geneSymbol": "PCCA", "hgvs": [ "NR_148027.2:n.519T>C" ], "referenceSequence": "http://reg.genome.network/refseq/RS704674" }, { "coordinates": [ { "allele": "C", "end": 519, "referenceAllele": "T", "start": 518 } ], "gene": "http://reg.genome.network/gene/GN008653", "geneNCBI_id": 5095, "geneSymbol": "PCCA", "hgvs": [ "NR_148028.2:n.519T>C" ], "referenceSequence": "http://reg.genome.network/refseq/RS704675" }, { "coordinates": [ { "allele": "C", "end": 441, "referenceAllele": "T", "start": 440 } ], "gene": "http://reg.genome.network/gene/GN008653", "geneNCBI_id": 5095, "geneSymbol": "PCCA", "hgvs": [ "NR_148029.2:n.441T>C" ], "referenceSequence": "http://reg.genome.network/refseq/RS704676" }, { "coordinates": [ { "allele": "C", "end": 519, "referenceAllele": "T", "start": 518 } ], "gene": "http://reg.genome.network/gene/GN008653", "geneNCBI_id": 5095, "geneSymbol": "PCCA", "hgvs": [ "NR_148030.2:n.519T>C" ], "referenceSequence": "http://reg.genome.network/refseq/RS704677" }, { "coordinates": [ { "allele": "C", "end": 519, "referenceAllele": "T", "start": 518 } ], "gene": "http://reg.genome.network/gene/GN008653", "geneNCBI_id": 5095, "geneSymbol": "PCCA", "hgvs": [ "NR_148031.2:n.519T>C" ], "referenceSequence": "http://reg.genome.network/refseq/RS704678" }, { "@id": "http://reg.genome.network/allele/PA2825653784", "coordinates": [ { "allele": "C", "end": 441, "referenceAllele": "T", "start": 440 } ], "gene": "http://reg.genome.network/gene/GN008653", "geneNCBI_id": 5095, "geneSymbol": "PCCA", "hgvs": [ "NM_001127692.3:c.413T>C" ], "proteinEffect": { "hgvs": "NP_001121164.1:p.Ile138Thr", "hgvsWellDefined": "NP_001121164.1:p.Ile138Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS712226" }, { "@id": "http://reg.genome.network/allele/PA2826131474", "coordinates": [ { "allele": "C", "end": 519, "referenceAllele": "T", "start": 518 } ], "gene": "http://reg.genome.network/gene/GN008653", "geneNCBI_id": 5095, "geneSymbol": "PCCA", "hgvs": [ "NM_001178004.2:c.491T>C" ], "proteinEffect": { "hgvs": "NP_001171475.1:p.Ile164Thr", "hgvsWellDefined": "NP_001171475.1:p.Ile164Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS713545" } ], "type": "nucleotide" }