Canonical Allele Identifier: CA2326057643

Gene: JAK3

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.17843411T= , CM000681.2:g.17843411T=	GRCh38
NC_000019.9:g.17954220T= , CM000681.1:g.17954220T=	GRCh37
NC_000019.8:g.17815220T=	NCBI36
NG_007273.1:g.9581A= , LRG_77:g.9581A=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000526008.6:c.389A=	ENSP00000513006.1:p.Asp130=
ENST00000458235.7:c.389A= MANE Select	ENSP00000391676.1:p.Asp130=
ENST00000458235.5:c.389A=	ENSP00000391676.1:p.Asp130=
ENST00000526008.5:n.489A=
ENST00000527031.5:n.479A=
ENST00000527670.5:c.389A=	ENSP00000432511.1:p.Asp130=
ENST00000528293.1:n.404A=
ENST00000534444.1:c.389A=	ENSP00000436421.1:p.Asp130=
NM_000215.3:c.389A= , LRG_77t1:c.389A=	NP_000206.2:p.Asp130=
XM_005259896.2:c.518A=	XP_005259953.1:p.Asp173=
XM_006722745.2:c.389A=	XP_006722808.1:p.Asp130=
XM_011527990.1:c.518A=	XP_011526292.1:p.Asp173=
XM_011527991.1:c.518A=	XP_011526293.1:p.Asp173=
XR_430137.2:n.528A=
XM_005259896.3:c.518A=	XP_005259953.1:p.Asp173=
XM_011527991.2:c.518A=	XP_011526293.1:p.Asp173=
NM_000215.4:c.389A= MANE Select	NP_000206.2:p.Asp130=