{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA3203415", "communityStandardTitle": [ "NM_001369.3(DNAH5):c.6409C>A (p.Leu2137Ile)" ], "externalRecords": { "ClinVarAlleles": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=395387[alleleid]", "alleleId": 395387, "preferredName": "NM_001369.3(DNAH5):c.6409C>A (p.Leu2137Ile)" } ], "ClinVarVariations": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/407252", "RCV": [ "RCV000464982" ], "variationId": 407252 } ], "ExAC": [ { "@id": "http://exac.broadinstitute.org/variant/5-13829654-G-T", "id": "5-13829654-G-T", "variant": "5:13829654 G / T" } ], "MyVariantInfo_hg19": [ { "@id": "http://myvariant.info/v1/variant/chr5:g.13829654G>T?assembly=hg19", "id": "chr5:g.13829654G>T" } ], "MyVariantInfo_hg38": [ { "@id": "http://myvariant.info/v1/variant/chr5:g.13829545G>T?assembly=hg38", "id": "chr5:g.13829545G>T" } ], "dbSNP": [ { "@id": "http://www.ncbi.nlm.nih.gov/snp/181884470", "rs": 181884470 } ], "gnomAD_2": [ { "@id": "http://gnomad.broadinstitute.org/variant/5-13829654-G-T?dataset=gnomad_r2_1", "id": "5-13829654-G-T", "variant": "5:13829654 G / T" } ], "gnomAD_3": [ { "@id": "http://gnomad.broadinstitute.org/variant/5-13829545-G-T?dataset=gnomad_r3", "id": "5-13829545-G-T", "variant": "5:13829545 G / T" } ], "gnomAD_4": [ { "@id": "http://gnomad.broadinstitute.org/variant/5-13829545-G-T?dataset=gnomad_r4", "id": "5-13829545-G-T", "variant": "5:13829545 G / T" } ] }, "genomicAlleles": [ { "chromosome": "5", "coordinates": [ { "allele": "T", "end": 13829545, "referenceAllele": "G", "start": 13829544 } ], "hgvs": [ "NC_000005.10:g.13829545G>T", "CM000667.2:g.13829545G>T" ], "referenceGenome": "GRCh38", "referenceSequence": "http://reg.genome.network/refseq/RS000053" }, { "chromosome": "5", "coordinates": [ { "allele": "T", "end": 13829654, "referenceAllele": "G", "start": 13829653 } ], "hgvs": [ "NC_000005.9:g.13829654G>T", "CM000667.1:g.13829654G>T" ], "referenceGenome": "GRCh37", "referenceSequence": "http://reg.genome.network/refseq/RS000029" }, { "chromosome": "5", "coordinates": [ { "allele": "T", "end": 13882654, "referenceAllele": "G", "start": 13882653 } ], "hgvs": [ "NC_000005.8:g.13882654G>T" ], "referenceGenome": "NCBI36", "referenceSequence": "http://reg.genome.network/refseq/RS000005" }, { "coordinates": [ { "allele": "A", "end": 119936, "referenceAllele": "C", "start": 119935 } ], "hgvs": [ "NG_013081.1:g.119936C>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS002704" }, { "coordinates": [ { "allele": "A", "end": 119936, "referenceAllele": "C", "start": 119935 } ], "hgvs": [ "NG_013081.2:g.119936C>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS673632" } ], "transcriptAlleles": [ { "coordinates": [ { "allele": "A", "end": 1340, "referenceAllele": "C", "start": 1339 } ], "gene": "http://reg.genome.network/gene/GN002950", "geneNCBI_id": 1767, "geneSymbol": "DNAH5", "hgvs": [ "ENST00000683090.1:n.1340C>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS828075" }, { "coordinates": [ { "allele": "A", "end": 6659, "referenceAllele": "C", "start": 6658 } ], "gene": "http://reg.genome.network/gene/GN002950", "geneNCBI_id": 1767, "geneSymbol": "DNAH5", "hgvs": [ "ENST00000265104.5:c.6409C>A" ], "proteinEffect": { "hgvs": "ENSP00000265104.4:p.Leu2137Ile", "hgvsWellDefined": "ENSP00000265104.4:p.Leu2137Ile" }, "referenceSequence": "http://reg.genome.network/refseq/RS742788", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000265104.5:c.6409C>A" }, "RefSeq": { "hgvs": "NM_001369.3:c.6409C>A" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000265104.4:p.Leu2137Ile" }, "RefSeq": { "hgvs": "NP_001360.1:p.Leu2137Ile" } } } }, { "coordinates": [ { "allele": "A", "end": 6523, "referenceAllele": "C", "start": 6522 } ], "gene": "http://reg.genome.network/gene/GN002950", "geneNCBI_id": 1767, "geneSymbol": "DNAH5", "hgvs": [ "ENST00000681290.1:c.6364C>A" ], "proteinEffect": { "hgvs": "ENSP00000505288.1:p.Leu2122Ile", "hgvsWellDefined": "ENSP00000505288.1:p.Leu2122Ile" }, "referenceSequence": "http://reg.genome.network/refseq/RS780901" }, { "coordinates": [ { "allele": "A", "end": 6514, "referenceAllele": "C", "start": 6513 } ], "gene": "http://reg.genome.network/gene/GN002950", "geneNCBI_id": 1767, "geneSymbol": "DNAH5", "hgvs": [ "ENST00000265104.4:c.6409C>A" ], "proteinEffect": { "hgvs": "ENSP00000265104.4:p.Leu2137Ile", "hgvsWellDefined": "ENSP00000265104.4:p.Leu2137Ile" }, "referenceSequence": "http://reg.genome.network/refseq/RS251673" }, { "@id": "http://reg.genome.network/allele/PA645388530", "coordinates": [ { "allele": "A", "end": 6451, "referenceAllele": "C", "start": 6450 } ], "gene": "http://reg.genome.network/gene/GN002950", "geneNCBI_id": 1767, "geneSymbol": "DNAH5", "hgvs": [ "NM_001369.2:c.6409C>A" ], "proteinEffect": { "hgvs": "NP_001360.1:p.Leu2137Ile", "hgvsWellDefined": "NP_001360.1:p.Leu2137Ile" }, "referenceSequence": "http://reg.genome.network/refseq/RS026756" }, { "coordinates": [ { "allele": "A", "end": 6464, "referenceAllele": "C", "start": 6463 } ], "gene": "http://reg.genome.network/gene/GN002950", "geneNCBI_id": 1767, "geneSymbol": "DNAH5", "hgvs": [ "XM_005248262.2:c.6364C>A" ], "proteinEffect": { "hgvs": "XP_005248319.1:p.Leu2122Ile", "hgvsWellDefined": "XP_005248319.1:p.Leu2122Ile" }, "referenceSequence": "http://reg.genome.network/refseq/RS058370" }, { "coordinates": [ { "allele": "A", "end": 6616, "referenceAllele": "C", "start": 6615 } ], "gene": "http://reg.genome.network/gene/GN002950", "geneNCBI_id": 1767, "geneSymbol": "DNAH5", "hgvs": [ "XM_011513990.1:c.6409C>A" ], "proteinEffect": { "hgvs": "XP_011512292.1:p.Leu2137Ile", "hgvsWellDefined": "XP_011512292.1:p.Leu2137Ile" }, "referenceSequence": "http://reg.genome.network/refseq/RS081219" }, { "coordinates": [ { "allele": "A", "end": 6616, "referenceAllele": "C", "start": 6615 } ], "gene": "http://reg.genome.network/gene/GN002950", "geneNCBI_id": 1767, "geneSymbol": "DNAH5", "hgvs": [ "XR_925598.1:n.6616C>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS122426" }, { "coordinates": [ { "allele": "A", "end": 6534, "referenceAllele": "C", "start": 6533 } ], "gene": "http://reg.genome.network/gene/GN002950", "geneNCBI_id": 1767, "geneSymbol": "DNAH5", "hgvs": [ "XM_005248262.3:c.6517C>A" ], "proteinEffect": { "hgvs": "XP_005248319.2:p.Leu2173Ile", "hgvsWellDefined": "XP_005248319.2:p.Leu2173Ile" }, "referenceSequence": "http://reg.genome.network/refseq/RS533031" }, { "coordinates": [ { "allele": "A", "end": 6534, "referenceAllele": "C", "start": 6533 } ], "gene": "http://reg.genome.network/gene/GN002950", "geneNCBI_id": 1767, "geneSymbol": "DNAH5", "hgvs": [ "XM_017009177.1:c.6517C>A" ], "proteinEffect": { "hgvs": "XP_016864666.1:p.Leu2173Ile", "hgvsWellDefined": "XP_016864666.1:p.Leu2173Ile" }, "referenceSequence": "http://reg.genome.network/refseq/RS563535" }, { "coordinates": [ { "allele": "A", "end": 7337, "referenceAllele": "C", "start": 7336 } ], "gene": "http://reg.genome.network/gene/GN002950", "geneNCBI_id": 1767, "geneSymbol": "DNAH5", "hgvs": [ "XM_017009178.1:c.5422C>A" ], "proteinEffect": { "hgvs": "XP_016864667.1:p.Leu1808Ile", "hgvsWellDefined": "XP_016864667.1:p.Leu1808Ile" }, "referenceSequence": "http://reg.genome.network/refseq/RS563536" }, { "coordinates": [ { "allele": "A", "end": 5560, "referenceAllele": "C", "start": 5559 } ], "gene": "http://reg.genome.network/gene/GN002950", "geneNCBI_id": 1767, "geneSymbol": "DNAH5", "hgvs": [ "XM_017009179.2:c.5422C>A" ], "proteinEffect": { "hgvs": "XP_016864668.1:p.Leu1808Ile", "hgvsWellDefined": "XP_016864668.1:p.Leu1808Ile" }, "referenceSequence": "http://reg.genome.network/refseq/RS563537" }, { "coordinates": [ { "allele": "A", "end": 6534, "referenceAllele": "C", "start": 6533 } ], "gene": "http://reg.genome.network/gene/GN002950", "geneNCBI_id": 1767, "geneSymbol": "DNAH5", "hgvs": [ "XM_017009180.1:c.6517C>A" ], "proteinEffect": { "hgvs": "XP_016864669.1:p.Leu2173Ile", "hgvsWellDefined": "XP_016864669.1:p.Leu2173Ile" }, "referenceSequence": "http://reg.genome.network/refseq/RS563538" }, { "coordinates": [ { "allele": "A", "end": 6534, "referenceAllele": "C", "start": 6533 } ], "gene": "http://reg.genome.network/gene/GN002950", "geneNCBI_id": 1767, "geneSymbol": "DNAH5", "hgvs": [ "XM_017009181.1:c.6517C>A" ], "proteinEffect": { "hgvs": "XP_016864670.1:p.Leu2173Ile", "hgvsWellDefined": "XP_016864670.1:p.Leu2173Ile" }, "referenceSequence": "http://reg.genome.network/refseq/RS563539" }, { "coordinates": [ { "allele": "A", "end": 6534, "referenceAllele": "C", "start": 6533 } ], "gene": "http://reg.genome.network/gene/GN002950", "geneNCBI_id": 1767, "geneSymbol": "DNAH5", "hgvs": [ "XM_017009182.1:c.6517C>A" ], "proteinEffect": { "hgvs": "XP_016864671.1:p.Leu2173Ile", "hgvsWellDefined": "XP_016864671.1:p.Leu2173Ile" }, "referenceSequence": "http://reg.genome.network/refseq/RS563540" }, { "coordinates": [ { "allele": "A", "end": 6534, "referenceAllele": "C", "start": 6533 } ], "gene": "http://reg.genome.network/gene/GN002950", "geneNCBI_id": 1767, "geneSymbol": "DNAH5", "hgvs": [ "XM_017009183.1:c.6517C>A" ], "proteinEffect": { "hgvs": "XP_016864672.1:p.Leu2173Ile", "hgvsWellDefined": "XP_016864672.1:p.Leu2173Ile" }, "referenceSequence": "http://reg.genome.network/refseq/RS563541" }, { "coordinates": [ { "allele": "A", "end": 6534, "referenceAllele": "C", "start": 6533 } ], "gene": "http://reg.genome.network/gene/GN002950", "geneNCBI_id": 1767, "geneSymbol": "DNAH5", "hgvs": [ "XM_017009184.1:c.6517C>A" ], "proteinEffect": { "hgvs": "XP_016864673.1:p.Leu2173Ile", "hgvsWellDefined": "XP_016864673.1:p.Leu2173Ile" }, "referenceSequence": "http://reg.genome.network/refseq/RS563542" }, { "coordinates": [ { "allele": "A", "end": 1830, "referenceAllele": "C", "start": 1829 } ], "gene": "http://reg.genome.network/gene/GN002950", "geneNCBI_id": 1767, "geneSymbol": "DNAH5", "hgvs": [ "XM_017009185.1:c.1606C>A" ], "proteinEffect": { "hgvs": "XP_016864674.1:p.Leu536Ile", "hgvsWellDefined": "XP_016864674.1:p.Leu536Ile" }, "referenceSequence": "http://reg.genome.network/refseq/RS563543" }, { "coordinates": [ { "allele": "A", "end": 1246, "referenceAllele": "C", "start": 1245 } ], "gene": "http://reg.genome.network/gene/GN002950", "geneNCBI_id": 1767, "geneSymbol": "DNAH5", "hgvs": [ "XM_017009186.1:c.1159C>A" ], "proteinEffect": { "hgvs": "XP_016864675.1:p.Leu387Ile", "hgvsWellDefined": "XP_016864675.1:p.Leu387Ile" }, "referenceSequence": "http://reg.genome.network/refseq/RS563544" }, { "coordinates": [ { "allele": "A", "end": 6534, "referenceAllele": "C", "start": 6533 } ], "gene": "http://reg.genome.network/gene/GN002950", "geneNCBI_id": 1767, "geneSymbol": "DNAH5", "hgvs": [ "XM_017009187.1:c.6517C>A" ], "proteinEffect": { "hgvs": "XP_016864676.1:p.Leu2173Ile", "hgvsWellDefined": "XP_016864676.1:p.Leu2173Ile" }, "referenceSequence": "http://reg.genome.network/refseq/RS563545" }, { "coordinates": [ { "allele": "A", "end": 2062, "referenceAllele": "C", "start": 2061 } ], "gene": "http://reg.genome.network/gene/GN002950", "geneNCBI_id": 1767, "geneSymbol": "DNAH5", "hgvs": [ "XM_017009188.1:c.496C>A" ], "proteinEffect": { "hgvs": "XP_016864677.1:p.Leu166Ile", "hgvsWellDefined": "XP_016864677.1:p.Leu166Ile" }, "referenceSequence": "http://reg.genome.network/refseq/RS563546" }, { "coordinates": [ { "allele": "A", "end": 9207, "referenceAllele": "C", "start": 9206 } ], "gene": "http://reg.genome.network/gene/GN002950", "geneNCBI_id": 1767, "geneSymbol": "DNAH5", "hgvs": [ "XM_024454388.1:c.5422C>A" ], "proteinEffect": { "hgvs": "XP_024310156.1:p.Leu1808Ile", "hgvsWellDefined": "XP_024310156.1:p.Leu1808Ile" }, "referenceSequence": "http://reg.genome.network/refseq/RS587750" }, { "coordinates": [ { "allele": "A", "end": 7849, "referenceAllele": "C", "start": 7848 } ], "gene": "http://reg.genome.network/gene/GN002950", "geneNCBI_id": 1767, "geneSymbol": "DNAH5", "hgvs": [ "XM_024454389.1:c.5011C>A" ], "proteinEffect": { "hgvs": "XP_024310157.1:p.Leu1671Ile", "hgvsWellDefined": "XP_024310157.1:p.Leu1671Ile" }, "referenceSequence": "http://reg.genome.network/refseq/RS587751" }, { "coordinates": [ { "allele": "A", "end": 6534, "referenceAllele": "C", "start": 6533 } ], "gene": "http://reg.genome.network/gene/GN002950", "geneNCBI_id": 1767, "geneSymbol": "DNAH5", "hgvs": [ "XR_001742034.1:n.6534C>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS591906" }, { "coordinates": [ { "allele": "A", "end": 6534, "referenceAllele": "C", "start": 6533 } ], "gene": "http://reg.genome.network/gene/GN002950", "geneNCBI_id": 1767, "geneSymbol": "DNAH5", "hgvs": [ "XR_001742035.1:n.6534C>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS591907" }, { "@id": "http://reg.genome.network/allele/PA645388530", "coordinates": [ { "allele": "A", "end": 6659, "referenceAllele": "C", "start": 6658 } ], "gene": "http://reg.genome.network/gene/GN002950", "geneNCBI_id": 1767, "geneSymbol": "DNAH5", "hgvs": [ "NM_001369.3:c.6409C>A" ], "proteinEffect": { "hgvs": "NP_001360.1:p.Leu2137Ile", "hgvsWellDefined": "NP_001360.1:p.Leu2137Ile" }, "referenceSequence": "http://reg.genome.network/refseq/RS721135", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000265104.5:c.6409C>A" }, "RefSeq": { "hgvs": "NM_001369.3:c.6409C>A" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000265104.4:p.Leu2137Ile" }, "RefSeq": { "hgvs": "NP_001360.1:p.Leu2137Ile" } } } } ], "type": "nucleotide" }