Canonical Allele Identifier: CA404763241
Gene: JAK3 HGNC NCBI

Linked Data

dbSNP Id: rs757910571
gnomAD v2: 19-17937714-G-C
gnomAD v4: 19-17826905-G-C
MyVariant Identifiers: chr19:g.17937714G>C (hg19) chr19:g.17826905G>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.17826905G>C , CM000681.2:g.17826905G>C GRCh38
NC_000019.9:g.17937714G>C , CM000681.1:g.17937714G>C GRCh37
NC_000019.8:g.17798714G>C NCBI36
NG_007273.1:g.26087C>G , LRG_77:g.26087C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000526008.6:c.*1770C>G ENSP00000513006.1:n.*1770C>G
ENST00000696967.1:n.2390C>G
ENST00000696968.1:n.446C>G
ENST00000696969.1:n.2170C>G
ENST00000458235.7:c.3213C>G MANE Select ENSP00000391676.1:p.His1071Gln
ENST00000458235.5:c.3213C>G ENSP00000391676.1:p.His1071Gln
ENST00000527031.5:n.2279-1595C>G
ENST00000527670.5:c.3213C>G ENSP00000432511.1:p.His1071Gln
NM_000215.3:c.3213C>G , LRG_77t1:c.3213C>G NP_000206.2:p.His1071Gln
XM_005259896.2:c.3342C>G XP_005259953.1:p.His1114Gln
XM_006722745.2:c.3213C>G XP_006722808.1:p.His1071Gln
XM_005259896.3:c.3342C>G XP_005259953.1:p.His1114Gln
NM_000215.4:c.3213C>G MANE Select NP_000206.2:p.His1071Gln
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