Canonical Allele Identifier: CA2326053569

Gene: JAK3

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.17834979A= , CM000681.2:g.17834979A=	GRCh38
NC_000019.9:g.17945788A= , CM000681.1:g.17945788A=	GRCh37
NC_000019.8:g.17806788A=	NCBI36
NG_007273.1:g.18013T= , LRG_77:g.18013T=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000526008.6:c.*629T=	ENSP00000513006.1:n.*629T=
ENST00000696967.1:n.1249T=
ENST00000696970.1:n.727T=
ENST00000458235.7:c.2072T= MANE Select	ENSP00000391676.1:p.Val691=
ENST00000458235.5:c.2072T=	ENSP00000391676.1:p.Val691=
ENST00000527031.5:n.2278+1748T=
ENST00000527670.5:c.2072T=	ENSP00000432511.1:p.Val691=
ENST00000534444.1:c.2072T=	ENSP00000436421.1:p.Val691=
NM_000215.3:c.2072T= , LRG_77t1:c.2072T=	NP_000206.2:p.Val691=
XM_005259896.2:c.2201T=	XP_005259953.1:p.Val734=
XM_006722745.2:c.2072T=	XP_006722808.1:p.Val691=
XM_011527990.1:c.2201T=	XP_011526292.1:p.Val734=
XR_430137.2:n.2211T=
XM_005259896.3:c.2201T=	XP_005259953.1:p.Val734=
NM_000215.4:c.2072T= MANE Select	NP_000206.2:p.Val691=