{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA367642114", "communityStandardTitle": [ "NM_000048.4(ASL):c.509G>A (p.Ser170Asn)" ], "externalRecords": { "ClinVarAlleles": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=1484645[alleleid]", "alleleId": 1484645, "preferredName": "NM_000048.4(ASL):c.509G>A (p.Ser170Asn)" } ], "ClinVarVariations": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/1459454", "RCV": [ "RCV001963084" ], "variationId": 1459454 } ], "MyVariantInfo_hg19": [ { "@id": "http://myvariant.info/v1/variant/chr7:g.65551634G>A?assembly=hg19", "id": "chr7:g.65551634G>A" } ], "MyVariantInfo_hg38": [ { "@id": "http://myvariant.info/v1/variant/chr7:g.66086647G>A?assembly=hg38", "id": "chr7:g.66086647G>A" } ], "dbSNP": [ { "@id": "http://www.ncbi.nlm.nih.gov/snp/1180650883", "rs": 1180650883 } ], "gnomAD_2": [ { "@id": "http://gnomad.broadinstitute.org/variant/7-65551634-G-A?dataset=gnomad_r2_1", "id": "7-65551634-G-A", "variant": "7:65551634 G / A" } ], "gnomAD_4": [ { "@id": "http://gnomad.broadinstitute.org/variant/7-66086647-G-A?dataset=gnomad_r4", "id": "7-66086647-G-A", "variant": "7:66086647 G / A" } ] }, "genomicAlleles": [ { "chromosome": "7", "coordinates": [ { "allele": "A", "end": 66086647, "referenceAllele": "G", "start": 66086646 } ], "hgvs": [ "NC_000007.14:g.66086647G>A", "CM000669.2:g.66086647G>A" ], "referenceGenome": "GRCh38", "referenceSequence": "http://reg.genome.network/refseq/RS000055" }, { "chromosome": "7", "coordinates": [ { "allele": "A", "end": 65551634, "referenceAllele": "G", "start": 65551633 } ], "hgvs": [ "NC_000007.13:g.65551634G>A", "CM000669.1:g.65551634G>A" ], "referenceGenome": "GRCh37", "referenceSequence": "http://reg.genome.network/refseq/RS000031" }, { "chromosome": "7", "coordinates": [ { "allele": "A", "end": 65189069, "referenceAllele": "G", "start": 65189068 } ], "hgvs": [ "NC_000007.12:g.65189069G>A" ], "referenceGenome": "NCBI36", "referenceSequence": "http://reg.genome.network/refseq/RS000007" }, { "coordinates": [ { "allele": "A", "end": 15859, "referenceAllele": "G", "start": 15858 } ], "hgvs": [ "NG_009288.1:g.15859G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS001544" } ], "transcriptAlleles": [ { "coordinates": [ { "allele": "A", "end": 590, "referenceAllele": "G", "start": 589 } ], "gene": "http://reg.genome.network/gene/GN000746", "geneNCBI_id": 435, "geneSymbol": "ASL", "hgvs": [ "ENST00000304874.14:c.509G>A" ], "proteinEffect": { "hgvs": "ENSP00000307188.9:p.Ser170Asn", "hgvsWellDefined": "ENSP00000307188.9:p.Ser170Asn" }, "referenceSequence": "http://reg.genome.network/refseq/RS745152", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000304874.14:c.509G>A" }, "RefSeq": { "hgvs": "NM_000048.4:c.509G>A" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000307188.9:p.Ser170Asn" }, "RefSeq": { "hgvs": "NP_000039.2:p.Ser170Asn" } } } }, { "coordinates": [ { "allele": "A", "end": 459, "referenceAllele": "G", "start": 458 } ], "gene": "http://reg.genome.network/gene/GN000746", "geneNCBI_id": 435, "geneSymbol": "ASL", "hgvs": [ "ENST00000362000.10:c.314G>A" ], "proteinEffect": { "hgvs": "ENSP00000354710.6:p.Ser105Asn", "hgvsWellDefined": "ENSP00000354710.6:p.Ser105Asn" }, "referenceSequence": "http://reg.genome.network/refseq/RS749575" }, { "coordinates": [ { "allele": "A", "end": 744, "referenceAllele": "G", "start": 743 } ], "gene": "http://reg.genome.network/gene/GN000746", "geneNCBI_id": 435, "geneSymbol": "ASL", "hgvs": [ "ENST00000380839.9:c.509G>A" ], "proteinEffect": { "hgvs": "ENSP00000370219.4:p.Ser170Asn", "hgvsWellDefined": "ENSP00000370219.4:p.Ser170Asn" }, "referenceSequence": "http://reg.genome.network/refseq/RS752449" }, { "coordinates": [ { "allele": "A", "end": 647, "referenceAllele": "G", "start": 646 } ], "gene": "http://reg.genome.network/gene/GN000746", "geneNCBI_id": 435, "geneSymbol": "ASL", "hgvs": [ "ENST00000395331.4:c.509G>A" ], "proteinEffect": { "hgvs": "ENSP00000378740.3:p.Ser170Asn", "hgvsWellDefined": "ENSP00000378740.3:p.Ser170Asn" }, "referenceSequence": "http://reg.genome.network/refseq/RS753384" }, { "coordinates": [ { "allele": "A", "end": 702, "referenceAllele": "G", "start": 701 } ], "gene": "http://reg.genome.network/gene/GN000746", "geneNCBI_id": 435, "geneSymbol": "ASL", "hgvs": [ "ENST00000395332.8:c.509G>A" ], "proteinEffect": { "hgvs": "ENSP00000378741.3:p.Ser170Asn", "hgvsWellDefined": "ENSP00000378741.3:p.Ser170Asn" }, "referenceSequence": "http://reg.genome.network/refseq/RS753385" }, { "coordinates": [ { "allele": "A", "end": 646, "referenceAllele": "G", "start": 645 } ], "gene": "http://reg.genome.network/gene/GN000746", "geneNCBI_id": 435, "geneSymbol": "ASL", "hgvs": [ "ENST00000671817.1:c.509G>A" ], "proteinEffect": { "hgvs": "ENSP00000500462.1:p.Ser170Asn", "hgvsWellDefined": "ENSP00000500462.1:p.Ser170Asn" }, "referenceSequence": "http://reg.genome.network/refseq/RS773177" }, { "coordinates": [ { "allele": "A", "end": 694, "endIntronDirection": "-", "endIntronOffset": 1081, "referenceAllele": "G", "start": 694, "startIntronDirection": "-", "startIntronOffset": 1082 } ], "gene": "http://reg.genome.network/gene/GN000746", "geneNCBI_id": 435, "geneSymbol": "ASL", "hgvs": [ "ENST00000672498.1:c.447-1082G>A" ], "proteinEffect": { "hgvs": "ENSP00000500227.1:n.447-1082G>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS773401" }, { "coordinates": [ { "allele": "A", "end": 414, "referenceAllele": "G", "start": 413 } ], "gene": "http://reg.genome.network/gene/GN000746", "geneNCBI_id": 435, "geneSymbol": "ASL", "hgvs": [ "ENST00000672586.1:n.414G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS773425" }, { "coordinates": [ { "allele": "A", "end": 679, "referenceAllele": "G", "start": 678 } ], "gene": "http://reg.genome.network/gene/GN000746", "geneNCBI_id": 435, "geneSymbol": "ASL", "hgvs": [ "ENST00000672676.1:n.679G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS773454" }, { "coordinates": [ { "allele": "A", "end": 321, "referenceAllele": "G", "start": 320 } ], "gene": "http://reg.genome.network/gene/GN000746", "geneNCBI_id": 435, "geneSymbol": "ASL", "hgvs": [ "ENST00000673149.1:n.321G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS773598" }, { "coordinates": [ { "allele": "A", "end": 757, "referenceAllele": "G", "start": 756 } ], "gene": "http://reg.genome.network/gene/GN000746", "geneNCBI_id": 435, "geneSymbol": "ASL", "hgvs": [ "ENST00000673350.1:n.757G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS773654" }, { "coordinates": [ { "allele": "A", "end": 587, "referenceAllele": "G", "start": 586 } ], "gene": "http://reg.genome.network/gene/GN000746", "geneNCBI_id": 435, "geneSymbol": "ASL", "hgvs": [ "ENST00000673518.1:c.509G>A" ], "proteinEffect": { "hgvs": "ENSP00000499889.1:p.Ser170Asn", "hgvsWellDefined": "ENSP00000499889.1:p.Ser170Asn" }, "referenceSequence": "http://reg.genome.network/refseq/RS773711" }, { "coordinates": [ { "allele": "A", "end": 358, "referenceAllele": "G", "start": 357 } ], "gene": "http://reg.genome.network/gene/GN000746", "geneNCBI_id": 435, "geneSymbol": "ASL", "hgvs": [ "ENST00000673594.1:n.358G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS773729" }, { "coordinates": [ { "allele": "A", "end": 611, "referenceAllele": "G", "start": 610 } ], "gene": "http://reg.genome.network/gene/GN000746", "geneNCBI_id": 435, "geneSymbol": "ASL", "hgvs": [ "ENST00000304874.13:c.509G>A" ], "proteinEffect": { "hgvs": "ENSP00000307188.9:p.Ser170Asn", "hgvsWellDefined": "ENSP00000307188.9:p.Ser170Asn" }, "referenceSequence": "http://reg.genome.network/refseq/RS255521" }, { "coordinates": [ { "allele": "A", "end": 516, "referenceAllele": "G", "start": 515 } ], "gene": "http://reg.genome.network/gene/GN000746", "geneNCBI_id": 435, "geneSymbol": "ASL", "hgvs": [ "ENST00000362000.9:c.314G>A" ], "proteinEffect": { "hgvs": "ENSP00000354710.5:p.Ser105Asn", "hgvsWellDefined": "ENSP00000354710.5:p.Ser105Asn" }, "referenceSequence": "http://reg.genome.network/refseq/RS265746" }, { "coordinates": [ { "allele": "A", "end": 725, "referenceAllele": "G", "start": 724 } ], "gene": "http://reg.genome.network/gene/GN000746", "geneNCBI_id": 435, "geneSymbol": "ASL", "hgvs": [ "ENST00000380839.8:c.509G>A" ], "proteinEffect": { "hgvs": "ENSP00000370219.4:p.Ser170Asn", "hgvsWellDefined": "ENSP00000370219.4:p.Ser170Asn" }, "referenceSequence": "http://reg.genome.network/refseq/RS273115" }, { "coordinates": [ { "allele": "A", "end": 707, "referenceAllele": "G", "start": 706 } ], "gene": "http://reg.genome.network/gene/GN000746", "geneNCBI_id": 435, "geneSymbol": "ASL", "hgvs": [ "ENST00000395331.3:c.509G>A" ], "proteinEffect": { "hgvs": "ENSP00000378740.3:p.Ser170Asn", "hgvsWellDefined": "ENSP00000378740.3:p.Ser170Asn" }, "referenceSequence": "http://reg.genome.network/refseq/RS276634" }, { "coordinates": [ { "allele": "A", "end": 717, "referenceAllele": "G", "start": 716 } ], "gene": "http://reg.genome.network/gene/GN000746", "geneNCBI_id": 435, "geneSymbol": "ASL", "hgvs": [ "ENST00000395332.7:c.509G>A" ], "proteinEffect": { "hgvs": "ENSP00000378741.3:p.Ser170Asn", "hgvsWellDefined": "ENSP00000378741.3:p.Ser170Asn" }, "referenceSequence": "http://reg.genome.network/refseq/RS276635" }, { "coordinates": [ { "allele": "A", "end": 575, "referenceAllele": "G", "start": 574 } ], "gene": "http://reg.genome.network/gene/GN000746", "geneNCBI_id": 435, "geneSymbol": "ASL", "hgvs": [ "ENST00000487982.5:n.575G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS326409" }, { "@id": "http://reg.genome.network/allele/PA091673", "coordinates": [ { "allele": "A", "end": 620, "referenceAllele": "G", "start": 619 } ], "gene": "http://reg.genome.network/gene/GN000746", "geneNCBI_id": 435, "geneSymbol": "ASL", "hgvs": [ "NM_000048.3:c.509G>A" ], "proteinEffect": { "hgvs": "NP_000039.2:p.Ser170Asn", "hgvsWellDefined": "NP_000039.2:p.Ser170Asn" }, "referenceSequence": "http://reg.genome.network/refseq/RS006113" }, { "@id": "http://reg.genome.network/allele/PA2825338126", "coordinates": [ { "allele": "A", "end": 744, "referenceAllele": "G", "start": 743 } ], "gene": "http://reg.genome.network/gene/GN000746", "geneNCBI_id": 435, "geneSymbol": "ASL", "hgvs": [ "NM_001024943.1:c.509G>A" ], "proteinEffect": { "hgvs": "NP_001020114.1:p.Ser170Asn", "hgvsWellDefined": "NP_001020114.1:p.Ser170Asn" }, "referenceSequence": "http://reg.genome.network/refseq/RS008813" }, { "@id": "http://reg.genome.network/allele/PA2825338485", "coordinates": [ { "allele": "A", "end": 744, "referenceAllele": "G", "start": 743 } ], "gene": "http://reg.genome.network/gene/GN000746", "geneNCBI_id": 435, "geneSymbol": "ASL", "hgvs": [ "NM_001024944.1:c.509G>A" ], "proteinEffect": { "hgvs": "NP_001020115.1:p.Ser170Asn", "hgvsWellDefined": "NP_001020115.1:p.Ser170Asn" }, "referenceSequence": "http://reg.genome.network/refseq/RS008814" }, { "@id": "http://reg.genome.network/allele/PA2573177275", "coordinates": [ { "allele": "A", "end": 744, "referenceAllele": "G", "start": 743 } ], "gene": "http://reg.genome.network/gene/GN000746", "geneNCBI_id": 435, "geneSymbol": "ASL", "hgvs": [ "NM_001024946.1:c.509G>A" ], "proteinEffect": { "hgvs": "NP_001020117.1:p.Ser170Asn", "hgvsWellDefined": "NP_001020117.1:p.Ser170Asn" }, "referenceSequence": "http://reg.genome.network/refseq/RS008815" }, { "@id": "http://reg.genome.network/allele/PA091673", "coordinates": [ { "allele": "A", "end": 590, "referenceAllele": "G", "start": 589 } ], "gene": "http://reg.genome.network/gene/GN000746", "geneNCBI_id": 435, "geneSymbol": "ASL", "hgvs": [ "NM_000048.4:c.509G>A" ], "proteinEffect": { "hgvs": "NP_000039.2:p.Ser170Asn", "hgvsWellDefined": "NP_000039.2:p.Ser170Asn" }, "referenceSequence": "http://reg.genome.network/refseq/RS674677", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000304874.14:c.509G>A" }, "RefSeq": { "hgvs": "NM_000048.4:c.509G>A" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000307188.9:p.Ser170Asn" }, "RefSeq": { "hgvs": "NP_000039.2:p.Ser170Asn" } } } }, { "@id": "http://reg.genome.network/allele/PA2825338126", "coordinates": [ { "allele": "A", "end": 772, "referenceAllele": "G", "start": 771 } ], "gene": "http://reg.genome.network/gene/GN000746", "geneNCBI_id": 435, "geneSymbol": "ASL", "hgvs": [ "NM_001024943.2:c.509G>A" ], "proteinEffect": { "hgvs": "NP_001020114.1:p.Ser170Asn", "hgvsWellDefined": "NP_001020114.1:p.Ser170Asn" }, "referenceSequence": "http://reg.genome.network/refseq/RS675647" }, { "@id": "http://reg.genome.network/allele/PA2825338485", "coordinates": [ { "allele": "A", "end": 772, "referenceAllele": "G", "start": 771 } ], "gene": "http://reg.genome.network/gene/GN000746", "geneNCBI_id": 435, "geneSymbol": "ASL", "hgvs": [ "NM_001024944.2:c.509G>A" ], "proteinEffect": { "hgvs": "NP_001020115.1:p.Ser170Asn", "hgvsWellDefined": "NP_001020115.1:p.Ser170Asn" }, "referenceSequence": "http://reg.genome.network/refseq/RS675648" }, { "@id": "http://reg.genome.network/allele/PA2573177275", "coordinates": [ { "allele": "A", "end": 772, "referenceAllele": "G", "start": 771 } ], "gene": "http://reg.genome.network/gene/GN000746", "geneNCBI_id": 435, "geneSymbol": "ASL", "hgvs": [ "NM_001024946.2:c.509G>A" ], "proteinEffect": { "hgvs": "NP_001020117.1:p.Ser170Asn", "hgvsWellDefined": "NP_001020117.1:p.Ser170Asn" }, "referenceSequence": "http://reg.genome.network/refseq/RS675649" } ], "type": "nucleotide" }