Canonical Allele Identifier: CA2326057814

Gene: JAK3

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.17843867A= , CM000681.2:g.17843867A=	GRCh38
NC_000019.9:g.17954676A= , CM000681.1:g.17954676A=	GRCh37
NC_000019.8:g.17815676A=	NCBI36
NG_007273.1:g.9125T= , LRG_77:g.9125T=

Transcript Alleles

HGVS	Amino-acid change
ENST00000526008.6:c.218T=	ENSP00000513006.1:p.Leu73=
ENST00000458235.7:c.218T= MANE Select	ENSP00000391676.1:p.Leu73=
ENST00000458235.5:c.218T=	ENSP00000391676.1:p.Leu73=
ENST00000526008.5:n.318T=
ENST00000527031.5:n.308T=
ENST00000527670.5:c.218T=	ENSP00000432511.1:p.Leu73=
ENST00000528293.1:n.323+367T=
ENST00000534444.1:c.218T=	ENSP00000436421.1:p.Leu73=
NM_000215.3:c.218T= , LRG_77t1:c.218T=	NP_000206.2:p.Leu73=
XM_005259896.2:c.347T=	XP_005259953.1:p.Leu116=
XM_006722745.2:c.218T=	XP_006722808.1:p.Leu73=
XM_011527990.1:c.347T=	XP_011526292.1:p.Leu116=
XM_011527991.1:c.347T=	XP_011526293.1:p.Leu116=
XR_430137.2:n.357T=
XM_005259896.3:c.347T=	XP_005259953.1:p.Leu116=
XM_011527991.2:c.347T=	XP_011526293.1:p.Leu116=
NM_000215.4:c.218T= MANE Select	NP_000206.2:p.Leu73=