Canonical Allele Identifier: CA2326051246

Gene: JAK3

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.17830086A= , CM000681.2:g.17830086A=	GRCh38
NC_000019.9:g.17940895A= , CM000681.1:g.17940895A=	GRCh37
NC_000019.8:g.17801895A=	NCBI36
NG_007273.1:g.22906T= , LRG_77:g.22906T=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000526008.6:c.*1764+22T=	ENSP00000513006.1:n.*1764+22T=
ENST00000696967.1:n.2384+22T=
ENST00000696968.1:n.440+22T=
ENST00000696969.1:n.2164+22T=
ENST00000458235.7:c.3207+22T= MANE Select	ENSP00000391676.1:n.3207+22T=
ENST00000458235.5:c.3207+22T=	ENSP00000391676.1:n.3207+22T=
ENST00000527031.5:n.2279-4776T=
ENST00000527670.5:c.3207+22T=	ENSP00000432511.1:n.3207+22T=
ENST00000534444.1:c.3229T=	ENSP00000436421.1:p.Ser1077=
NM_000215.3:c.3207+22T= , LRG_77t1:c.3207+22T=	NP_000206.2:n.3207+22T=
XM_005259896.2:c.3336+22T=	XP_005259953.1:n.3336+22T=
XM_006722745.2:c.3207+22T=	XP_006722808.1:n.3207+22T=
XM_005259896.3:c.3336+22T=	XP_005259953.1:n.3336+22T=
NM_000215.4:c.3207+22T= MANE Select	NP_000206.2:n.3207+22T=