Canonical Allele Identifier: CA2326051283

Gene: JAK3

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.17830158G= , CM000681.2:g.17830158G=	GRCh38
NC_000019.9:g.17940967G= , CM000681.1:g.17940967G=	GRCh37
NC_000019.8:g.17801967G=	NCBI36
NG_007273.1:g.22834C= , LRG_77:g.22834C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000526008.6:c.*1714C=	ENSP00000513006.1:n.*1714C=
ENST00000696967.1:n.2334C=
ENST00000696968.1:n.390C=
ENST00000696969.1:n.2114C=
ENST00000458235.7:c.3157C= MANE Select	ENSP00000391676.1:p.Leu1053=
ENST00000458235.5:c.3157C=	ENSP00000391676.1:p.Leu1053=
ENST00000527031.5:n.2279-4848C=
ENST00000527670.5:c.3157C=	ENSP00000432511.1:p.Leu1053=
ENST00000534444.1:c.3157C=	ENSP00000436421.1:p.Leu1053=
NM_000215.3:c.3157C= , LRG_77t1:c.3157C=	NP_000206.2:p.Leu1053=
XM_005259896.2:c.3286C=	XP_005259953.1:p.Leu1096=
XM_006722745.2:c.3157C=	XP_006722808.1:p.Leu1053=
XM_005259896.3:c.3286C=	XP_005259953.1:p.Leu1096=
NM_000215.4:c.3157C= MANE Select	NP_000206.2:p.Leu1053=