Canonical Allele Identifier: CA2326049524
Gene: JAK3 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.17826794A= , CM000681.2:g.17826794A= GRCh38
NC_000019.9:g.17937603A= , CM000681.1:g.17937603A= GRCh37
NC_000019.8:g.17798603A= NCBI36
NG_007273.1:g.26198T= , LRG_77:g.26198T=

Transcript Alleles

HGVS Amino-acid Change
ENST00000526008.6:c.*1881T= ENSP00000513006.1:n.*1881T=
ENST00000696967.1:n.2501T=
ENST00000696968.1:n.557T=
ENST00000696969.1:n.2281T=
ENST00000458235.7:c.3324T= MANE Select ENSP00000391676.1:p.His1108=
ENST00000458235.5:c.3324T= ENSP00000391676.1:p.His1108=
ENST00000527031.5:n.2279-1484T=
ENST00000527670.5:c.3324T= ENSP00000432511.1:p.His1108=
NM_000215.3:c.3324T= , LRG_77t1:c.3324T= NP_000206.2:p.His1108=
XM_005259896.2:c.3453T= XP_005259953.1:p.His1151=
XM_006722745.2:c.3324T= XP_006722808.1:p.His1108=
XM_005259896.3:c.3453T= XP_005259953.1:p.His1151=
NM_000215.4:c.3324T= MANE Select NP_000206.2:p.His1108=