Canonical Allele Identifier: CA2326049518
Gene: JAK3 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.17826779G= , CM000681.2:g.17826779G= GRCh38
NC_000019.9:g.17937588G= , CM000681.1:g.17937588G= GRCh37
NC_000019.8:g.17798588G= NCBI36
NG_007273.1:g.26213C= , LRG_77:g.26213C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000526008.6:c.*1896C= ENSP00000513006.1:n.*1896C=
ENST00000696967.1:n.2516C=
ENST00000696968.1:n.572C=
ENST00000696969.1:n.2296C=
ENST00000458235.7:c.3339C= MANE Select ENSP00000391676.1:p.His1113=
ENST00000458235.5:c.3339C= ENSP00000391676.1:p.His1113=
ENST00000527031.5:n.2279-1469C=
ENST00000527670.5:c.3339C= ENSP00000432511.1:p.His1113=
NM_000215.3:c.3339C= , LRG_77t1:c.3339C= NP_000206.2:p.His1113=
XM_005259896.2:c.3468C= XP_005259953.1:p.His1156=
XM_006722745.2:c.3339C= XP_006722808.1:p.His1113=
XM_005259896.3:c.3468C= XP_005259953.1:p.His1156=
NM_000215.4:c.3339C= MANE Select NP_000206.2:p.His1113=