{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA390850135", "communityStandardTitle": [ "NM_000295.5(SERPINA1):c.373C>A (p.Arg125Ser)" ], "externalRecords": { "MyVariantInfo_hg19": [ { "@id": "http://myvariant.info/v1/variant/chr14:g.94849202G>T?assembly=hg19", "id": "chr14:g.94849202G>T" } ], "MyVariantInfo_hg38": [ { "@id": "http://myvariant.info/v1/variant/chr14:g.94382865G>T?assembly=hg38", "id": "chr14:g.94382865G>T" } ] }, "genomicAlleles": [ { "chromosome": "14", "coordinates": [ { "allele": "T", "end": 94382865, "referenceAllele": "G", "start": 94382864 } ], "hgvs": [ "NC_000014.9:g.94382865G>T", "CM000676.2:g.94382865G>T" ], "referenceGenome": "GRCh38", "referenceSequence": "http://reg.genome.network/refseq/RS000062" }, { "chromosome": "14", "coordinates": [ { "allele": "T", "end": 94849202, "referenceAllele": "G", "start": 94849201 } ], "hgvs": [ "NC_000014.8:g.94849202G>T", "CM000676.1:g.94849202G>T" ], "referenceGenome": "GRCh37", "referenceSequence": "http://reg.genome.network/refseq/RS000038" }, { "chromosome": "14", "coordinates": [ { "allele": "T", "end": 93918955, "referenceAllele": "G", "start": 93918954 } ], "hgvs": [ "NC_000014.7:g.93918955G>T" ], "referenceGenome": "NCBI36", "referenceSequence": "http://reg.genome.network/refseq/RS000014" }, { "coordinates": [ { "allele": "A", "end": 12828, "referenceAllele": "C", "start": 12827 } ], "hgvs": [ "NG_008290.1:g.12828C>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS001004" } ], "transcriptAlleles": [ { "coordinates": [ { "allele": "A", "end": 420, "referenceAllele": "C", "start": 419 } ], "gene": "http://reg.genome.network/gene/GN008941", "geneNCBI_id": 5265, "geneSymbol": "SERPINA1", "hgvs": [ "ENST00000393087.9:c.373C>A" ], "proteinEffect": { "hgvs": "ENSP00000376802.4:p.Arg125Ser", "hgvsWellDefined": "ENSP00000376802.4:p.Arg125Ser" }, "referenceSequence": "http://reg.genome.network/refseq/RS753093", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000393087.9:c.373C>A" }, "RefSeq": { "hgvs": "NM_000295.5:c.373C>A" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000376802.4:p.Arg125Ser" }, "RefSeq": { "hgvs": "NP_000286.3:p.Arg125Ser" } } } }, { "coordinates": [ { "allele": "A", "end": 525, "referenceAllele": "C", "start": 524 } ], "gene": "http://reg.genome.network/gene/GN008941", "geneNCBI_id": 5265, "geneSymbol": "SERPINA1", "hgvs": [ "ENST00000636712.1:c.373C>A" ], "proteinEffect": { "hgvs": "ENSP00000490054.1:p.Arg125Ser", "hgvsWellDefined": "ENSP00000490054.1:p.Arg125Ser" }, "referenceSequence": "http://reg.genome.network/refseq/RS763327" }, { "coordinates": [ { "allele": "A", "end": 650, "referenceAllele": "C", "start": 649 } ], "gene": "http://reg.genome.network/gene/GN008941", "geneNCBI_id": 5265, "geneSymbol": "SERPINA1", "hgvs": [ "ENST00000355814.8:c.373C>A" ], "proteinEffect": { "hgvs": "ENSP00000348068.4:p.Arg125Ser", "hgvsWellDefined": "ENSP00000348068.4:p.Arg125Ser" }, "referenceSequence": "http://reg.genome.network/refseq/RS263559" }, { "coordinates": [ { "allele": "A", "end": 638, "referenceAllele": "C", "start": 637 } ], "gene": "http://reg.genome.network/gene/GN008941", "geneNCBI_id": 5265, "geneSymbol": "SERPINA1", "hgvs": [ "ENST00000393087.8:c.373C>A" ], "proteinEffect": { "hgvs": "ENSP00000376802.4:p.Arg125Ser", "hgvsWellDefined": "ENSP00000376802.4:p.Arg125Ser" }, "referenceSequence": "http://reg.genome.network/refseq/RS275446" }, { "coordinates": [ { "allele": "A", "end": 928, "referenceAllele": "C", "start": 927 } ], "gene": "http://reg.genome.network/gene/GN008941", "geneNCBI_id": 5265, "geneSymbol": "SERPINA1", "hgvs": [ "ENST00000393088.8:c.373C>A" ], "proteinEffect": { "hgvs": "ENSP00000376803.4:p.Arg125Ser", "hgvsWellDefined": "ENSP00000376803.4:p.Arg125Ser" }, "referenceSequence": "http://reg.genome.network/refseq/RS275447" }, { "coordinates": [ { "allele": "A", "end": 407, "referenceAllele": "C", "start": 406 } ], "gene": "http://reg.genome.network/gene/GN008941", "geneNCBI_id": 5265, "geneSymbol": "SERPINA1", "hgvs": [ "ENST00000402629.1:c.373C>A" ], "proteinEffect": { "hgvs": "ENSP00000386094.1:p.Arg125Ser", "hgvsWellDefined": "ENSP00000386094.1:p.Arg125Ser" }, "referenceSequence": "http://reg.genome.network/refseq/RS279575" }, { "coordinates": [ { "allele": "A", "end": 684, "referenceAllele": "C", "start": 683 } ], "gene": "http://reg.genome.network/gene/GN008941", "geneNCBI_id": 5265, "geneSymbol": "SERPINA1", "hgvs": [ "ENST00000404814.8:c.373C>A" ], "proteinEffect": { "hgvs": "ENSP00000385960.4:p.Arg125Ser", "hgvsWellDefined": "ENSP00000385960.4:p.Arg125Ser" }, "referenceSequence": "http://reg.genome.network/refseq/RS280169" }, { "coordinates": [ { "allele": "A", "end": 754, "referenceAllele": "C", "start": 753 } ], "gene": "http://reg.genome.network/gene/GN008941", "geneNCBI_id": 5265, "geneSymbol": "SERPINA1", "hgvs": [ "ENST00000437397.5:c.373C>A" ], "proteinEffect": { "hgvs": "ENSP00000408474.1:p.Arg125Ser", "hgvsWellDefined": "ENSP00000408474.1:p.Arg125Ser" }, "referenceSequence": "http://reg.genome.network/refseq/RS294442" }, { "coordinates": [ { "allele": "A", "end": 558, "referenceAllele": "C", "start": 557 } ], "gene": "http://reg.genome.network/gene/GN008941", "geneNCBI_id": 5265, "geneSymbol": "SERPINA1", "hgvs": [ "ENST00000440909.5:c.373C>A" ], "proteinEffect": { "hgvs": "ENSP00000390299.1:p.Arg125Ser", "hgvsWellDefined": "ENSP00000390299.1:p.Arg125Ser" }, "referenceSequence": "http://reg.genome.network/refseq/RS296122" }, { "coordinates": [ { "allele": "A", "end": 946, "referenceAllele": "C", "start": 945 } ], "gene": "http://reg.genome.network/gene/GN008941", "geneNCBI_id": 5265, "geneSymbol": "SERPINA1", "hgvs": [ "ENST00000448921.5:c.373C>A" ], "proteinEffect": { "hgvs": "ENSP00000416066.1:p.Arg125Ser", "hgvsWellDefined": "ENSP00000416066.1:p.Arg125Ser" }, "referenceSequence": "http://reg.genome.network/refseq/RS299955" }, { "coordinates": [ { "allele": "A", "end": 675, "referenceAllele": "C", "start": 674 } ], "gene": "http://reg.genome.network/gene/GN008941", "geneNCBI_id": 5265, "geneSymbol": "SERPINA1", "hgvs": [ "ENST00000449399.7:c.373C>A" ], "proteinEffect": { "hgvs": "ENSP00000416354.3:p.Arg125Ser", "hgvsWellDefined": "ENSP00000416354.3:p.Arg125Ser" }, "referenceSequence": "http://reg.genome.network/refseq/RS300207" }, { "coordinates": [ { "allele": "A", "end": 382, "referenceAllele": "C", "start": 381 } ], "gene": "http://reg.genome.network/gene/GN008941", "geneNCBI_id": 5265, "geneSymbol": "SERPINA1", "hgvs": [ "ENST00000489769.1:c.373C>A" ], "proteinEffect": { "hgvs": "ENSP00000451525.1:p.Arg125Ser", "hgvsWellDefined": "ENSP00000451525.1:p.Arg125Ser" }, "referenceSequence": "http://reg.genome.network/refseq/RS327757" }, { "coordinates": [ { "allele": "A", "end": 244, "referenceAllele": "C", "start": 243 } ], "gene": "http://reg.genome.network/gene/GN008941", "geneNCBI_id": 5265, "geneSymbol": "SERPINA1", "hgvs": [ "ENST00000554720.1:c.115C>A" ], "proteinEffect": { "hgvs": "ENSP00000450561.1:p.Arg39Ser", "hgvsWellDefined": "ENSP00000450561.1:p.Arg39Ser" }, "referenceSequence": "http://reg.genome.network/refseq/RS370859" }, { "coordinates": [ { "allele": "A", "end": 547, "referenceAllele": "C", "start": 546 } ], "gene": "http://reg.genome.network/gene/GN008941", "geneNCBI_id": 5265, "geneSymbol": "SERPINA1", "hgvs": [ "ENST00000556091.1:c.373C>A" ], "proteinEffect": { "hgvs": "ENSP00000452169.1:p.Arg125Ser", "hgvsWellDefined": "ENSP00000452169.1:p.Arg125Ser" }, "referenceSequence": "http://reg.genome.network/refseq/RS371949" }, { "coordinates": [ { "allele": "A", "end": 890, "referenceAllele": "C", "start": 889 } ], "gene": "http://reg.genome.network/gene/GN008941", "geneNCBI_id": 5265, "geneSymbol": "SERPINA1", "hgvs": [ "ENST00000557492.5:c.373C>A" ], "proteinEffect": { "hgvs": "ENSP00000452452.1:p.Arg125Ser", "hgvsWellDefined": "ENSP00000452452.1:p.Arg125Ser" }, "referenceSequence": "http://reg.genome.network/refseq/RS373075" }, { "coordinates": [ { "allele": "A", "end": 634, "referenceAllele": "C", "start": 633 } ], "gene": "http://reg.genome.network/gene/GN008941", "geneNCBI_id": 5265, "geneSymbol": "SERPINA1", "hgvs": [ "NM_000295.4:c.373C>A" ], "proteinEffect": { "hgvs": "NP_000286.3:p.Arg125Ser", "hgvsWellDefined": "NP_000286.3:p.Arg125Ser" }, "referenceSequence": "http://reg.genome.network/refseq/RS006356" }, { "coordinates": [ { "allele": "A", "end": 613, "referenceAllele": "C", "start": 612 } ], "gene": "http://reg.genome.network/gene/GN008941", "geneNCBI_id": 5265, "geneSymbol": "SERPINA1", "hgvs": [ "NM_001002235.2:c.373C>A" ], "proteinEffect": { "hgvs": "NP_001002235.1:p.Arg125Ser", "hgvsWellDefined": "NP_001002235.1:p.Arg125Ser" }, "referenceSequence": "http://reg.genome.network/refseq/RS007233" }, { "coordinates": [ { "allele": "A", "end": 927, "referenceAllele": "C", "start": 926 } ], "gene": "http://reg.genome.network/gene/GN008941", "geneNCBI_id": 5265, "geneSymbol": "SERPINA1", "hgvs": [ "NM_001002236.2:c.373C>A" ], "proteinEffect": { "hgvs": "NP_001002236.1:p.Arg125Ser", "hgvsWellDefined": "NP_001002236.1:p.Arg125Ser" }, "referenceSequence": "http://reg.genome.network/refseq/RS007234" }, { "coordinates": [ { "allele": "A", "end": 650, "referenceAllele": "C", "start": 649 } ], "gene": "http://reg.genome.network/gene/GN008941", "geneNCBI_id": 5265, "geneSymbol": "SERPINA1", "hgvs": [ "NM_001127700.1:c.373C>A" ], "proteinEffect": { "hgvs": "NP_001121172.1:p.Arg125Ser", "hgvsWellDefined": "NP_001121172.1:p.Arg125Ser" }, "referenceSequence": "http://reg.genome.network/refseq/RS011682" }, { "coordinates": [ { "allele": "A", "end": 946, "referenceAllele": "C", "start": 945 } ], "gene": "http://reg.genome.network/gene/GN008941", "geneNCBI_id": 5265, "geneSymbol": "SERPINA1", "hgvs": [ "NM_001127701.1:c.373C>A" ], "proteinEffect": { "hgvs": "NP_001121173.1:p.Arg125Ser", "hgvsWellDefined": "NP_001121173.1:p.Arg125Ser" }, "referenceSequence": "http://reg.genome.network/refseq/RS011683" }, { "coordinates": [ { "allele": "A", "end": 754, "referenceAllele": "C", "start": 753 } ], "gene": "http://reg.genome.network/gene/GN008941", "geneNCBI_id": 5265, "geneSymbol": "SERPINA1", "hgvs": [ "NM_001127702.1:c.373C>A" ], "proteinEffect": { "hgvs": "NP_001121174.1:p.Arg125Ser", "hgvsWellDefined": "NP_001121174.1:p.Arg125Ser" }, "referenceSequence": "http://reg.genome.network/refseq/RS011684" }, { "coordinates": [ { "allele": "A", "end": 909, "referenceAllele": "C", "start": 908 } ], "gene": "http://reg.genome.network/gene/GN008941", "geneNCBI_id": 5265, "geneSymbol": "SERPINA1", "hgvs": [ "NM_001127703.1:c.373C>A" ], "proteinEffect": { "hgvs": "NP_001121175.1:p.Arg125Ser", "hgvsWellDefined": "NP_001121175.1:p.Arg125Ser" }, "referenceSequence": "http://reg.genome.network/refseq/RS011685" }, { "coordinates": [ { "allele": "A", "end": 906, "referenceAllele": "C", "start": 905 } ], "gene": "http://reg.genome.network/gene/GN008941", "geneNCBI_id": 5265, "geneSymbol": "SERPINA1", "hgvs": [ "NM_001127704.1:c.373C>A" ], "proteinEffect": { "hgvs": "NP_001121176.1:p.Arg125Ser", "hgvsWellDefined": "NP_001121176.1:p.Arg125Ser" }, "referenceSequence": "http://reg.genome.network/refseq/RS011686" }, { "coordinates": [ { "allele": "A", "end": 924, "referenceAllele": "C", "start": 923 } ], "gene": "http://reg.genome.network/gene/GN008941", "geneNCBI_id": 5265, "geneSymbol": "SERPINA1", "hgvs": [ "NM_001127705.1:c.373C>A" ], "proteinEffect": { "hgvs": "NP_001121177.1:p.Arg125Ser", "hgvsWellDefined": "NP_001121177.1:p.Arg125Ser" }, "referenceSequence": "http://reg.genome.network/refseq/RS011687" }, { "coordinates": [ { "allele": "A", "end": 717, "referenceAllele": "C", "start": 716 } ], "gene": "http://reg.genome.network/gene/GN008941", "geneNCBI_id": 5265, "geneSymbol": "SERPINA1", "hgvs": [ "NM_001127706.1:c.373C>A" ], "proteinEffect": { "hgvs": "NP_001121178.1:p.Arg125Ser", "hgvsWellDefined": "NP_001121178.1:p.Arg125Ser" }, "referenceSequence": "http://reg.genome.network/refseq/RS011688" }, { "coordinates": [ { "allele": "A", "end": 714, "referenceAllele": "C", "start": 713 } ], "gene": "http://reg.genome.network/gene/GN008941", "geneNCBI_id": 5265, "geneSymbol": "SERPINA1", "hgvs": [ "NM_001127707.1:c.373C>A" ], "proteinEffect": { "hgvs": "NP_001121179.1:p.Arg125Ser", "hgvsWellDefined": "NP_001121179.1:p.Arg125Ser" }, "referenceSequence": "http://reg.genome.network/refseq/RS011689" }, { "coordinates": [ { "allele": "A", "end": 814, "referenceAllele": "C", "start": 813 } ], "gene": "http://reg.genome.network/gene/GN008941", "geneNCBI_id": 5265, "geneSymbol": "SERPINA1", "hgvs": [ "XM_017021370.1:c.373C>A" ], "proteinEffect": { "hgvs": "XP_016876859.1:p.Arg125Ser", "hgvsWellDefined": "XP_016876859.1:p.Arg125Ser" }, "referenceSequence": "http://reg.genome.network/refseq/RS572590" }, { "coordinates": [ { "allele": "A", "end": 420, "referenceAllele": "C", "start": 419 } ], "gene": "http://reg.genome.network/gene/GN008941", "geneNCBI_id": 5265, "geneSymbol": "SERPINA1", "hgvs": [ "NM_000295.5:c.373C>A" ], "proteinEffect": { "hgvs": "NP_000286.3:p.Arg125Ser", "hgvsWellDefined": "NP_000286.3:p.Arg125Ser" }, "referenceSequence": "http://reg.genome.network/refseq/RS674776", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000393087.9:c.373C>A" }, "RefSeq": { "hgvs": "NM_000295.5:c.373C>A" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000376802.4:p.Arg125Ser" }, "RefSeq": { "hgvs": "NP_000286.3:p.Arg125Ser" } } } }, { "coordinates": [ { "allele": "A", "end": 556, "referenceAllele": "C", "start": 555 } ], "gene": "http://reg.genome.network/gene/GN008941", "geneNCBI_id": 5265, "geneSymbol": "SERPINA1", "hgvs": [ "NM_001002235.3:c.373C>A" ], "proteinEffect": { "hgvs": "NP_001002235.1:p.Arg125Ser", "hgvsWellDefined": "NP_001002235.1:p.Arg125Ser" }, "referenceSequence": "http://reg.genome.network/refseq/RS675068" }, { "coordinates": [ { "allele": "A", "end": 870, "referenceAllele": "C", "start": 869 } ], "gene": "http://reg.genome.network/gene/GN008941", "geneNCBI_id": 5265, "geneSymbol": "SERPINA1", "hgvs": [ "NM_001002236.3:c.373C>A" ], "proteinEffect": { "hgvs": "NP_001002236.1:p.Arg125Ser", "hgvsWellDefined": "NP_001002236.1:p.Arg125Ser" }, "referenceSequence": "http://reg.genome.network/refseq/RS675069" }, { "coordinates": [ { "allele": "A", "end": 593, "referenceAllele": "C", "start": 592 } ], "gene": "http://reg.genome.network/gene/GN008941", "geneNCBI_id": 5265, "geneSymbol": "SERPINA1", "hgvs": [ "NM_001127700.2:c.373C>A" ], "proteinEffect": { "hgvs": "NP_001121172.1:p.Arg125Ser", "hgvsWellDefined": "NP_001121172.1:p.Arg125Ser" }, "referenceSequence": "http://reg.genome.network/refseq/RS676934" }, { "coordinates": [ { "allele": "A", "end": 889, "referenceAllele": "C", "start": 888 } ], "gene": "http://reg.genome.network/gene/GN008941", "geneNCBI_id": 5265, "geneSymbol": "SERPINA1", "hgvs": [ "NM_001127701.2:c.373C>A" ], "proteinEffect": { "hgvs": "NP_001121173.1:p.Arg125Ser", "hgvsWellDefined": "NP_001121173.1:p.Arg125Ser" }, "referenceSequence": "http://reg.genome.network/refseq/RS676935" }, { "coordinates": [ { "allele": "A", "end": 697, "referenceAllele": "C", "start": 696 } ], "gene": "http://reg.genome.network/gene/GN008941", "geneNCBI_id": 5265, "geneSymbol": "SERPINA1", "hgvs": [ "NM_001127702.2:c.373C>A" ], "proteinEffect": { "hgvs": "NP_001121174.1:p.Arg125Ser", "hgvsWellDefined": "NP_001121174.1:p.Arg125Ser" }, "referenceSequence": "http://reg.genome.network/refseq/RS676936" }, { "coordinates": [ { "allele": "A", "end": 852, "referenceAllele": "C", "start": 851 } ], "gene": "http://reg.genome.network/gene/GN008941", "geneNCBI_id": 5265, "geneSymbol": "SERPINA1", "hgvs": [ "NM_001127703.2:c.373C>A" ], "proteinEffect": { "hgvs": "NP_001121175.1:p.Arg125Ser", "hgvsWellDefined": "NP_001121175.1:p.Arg125Ser" }, "referenceSequence": "http://reg.genome.network/refseq/RS676937" }, { "coordinates": [ { "allele": "A", "end": 849, "referenceAllele": "C", "start": 848 } ], "gene": "http://reg.genome.network/gene/GN008941", "geneNCBI_id": 5265, "geneSymbol": "SERPINA1", "hgvs": [ "NM_001127704.2:c.373C>A" ], "proteinEffect": { "hgvs": "NP_001121176.1:p.Arg125Ser", "hgvsWellDefined": "NP_001121176.1:p.Arg125Ser" }, "referenceSequence": "http://reg.genome.network/refseq/RS676938" }, { "coordinates": [ { "allele": "A", "end": 867, "referenceAllele": "C", "start": 866 } ], "gene": "http://reg.genome.network/gene/GN008941", "geneNCBI_id": 5265, "geneSymbol": "SERPINA1", "hgvs": [ "NM_001127705.2:c.373C>A" ], "proteinEffect": { "hgvs": "NP_001121177.1:p.Arg125Ser", "hgvsWellDefined": "NP_001121177.1:p.Arg125Ser" }, "referenceSequence": "http://reg.genome.network/refseq/RS676939" }, { "coordinates": [ { "allele": "A", "end": 660, "referenceAllele": "C", "start": 659 } ], "gene": "http://reg.genome.network/gene/GN008941", "geneNCBI_id": 5265, "geneSymbol": "SERPINA1", "hgvs": [ "NM_001127706.2:c.373C>A" ], "proteinEffect": { "hgvs": "NP_001121178.1:p.Arg125Ser", "hgvsWellDefined": "NP_001121178.1:p.Arg125Ser" }, "referenceSequence": "http://reg.genome.network/refseq/RS676940" }, { "coordinates": [ { "allele": "A", "end": 657, "referenceAllele": "C", "start": 656 } ], "gene": "http://reg.genome.network/gene/GN008941", "geneNCBI_id": 5265, "geneSymbol": "SERPINA1", "hgvs": [ "NM_001127707.2:c.373C>A" ], "proteinEffect": { "hgvs": "NP_001121179.1:p.Arg125Ser", "hgvsWellDefined": "NP_001121179.1:p.Arg125Ser" }, "referenceSequence": "http://reg.genome.network/refseq/RS676941" } ], "type": "nucleotide" }