Canonical Allele Identifier: CA2326049519
Gene: JAK3 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.17826781G= , CM000681.2:g.17826781G= GRCh38
NC_000019.9:g.17937590G= , CM000681.1:g.17937590G= GRCh37
NC_000019.8:g.17798590G= NCBI36
NG_007273.1:g.26211C= , LRG_77:g.26211C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000526008.6:c.*1894C= ENSP00000513006.1:n.*1894C=
ENST00000696967.1:n.2514C=
ENST00000696968.1:n.570C=
ENST00000696969.1:n.2294C=
ENST00000458235.7:c.3337C= MANE Select ENSP00000391676.1:p.His1113=
ENST00000458235.5:c.3337C= ENSP00000391676.1:p.His1113=
ENST00000527031.5:n.2279-1471C=
ENST00000527670.5:c.3337C= ENSP00000432511.1:p.His1113=
NM_000215.3:c.3337C= , LRG_77t1:c.3337C= NP_000206.2:p.His1113=
XM_005259896.2:c.3466C= XP_005259953.1:p.His1156=
XM_006722745.2:c.3337C= XP_006722808.1:p.His1113=
XM_005259896.3:c.3466C= XP_005259953.1:p.His1156=
NM_000215.4:c.3337C= MANE Select NP_000206.2:p.His1113=