Canonical Allele Identifier: CA2326051266

Gene: JAK3

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.17830125G= , CM000681.2:g.17830125G=	GRCh38
NC_000019.9:g.17940934G= , CM000681.1:g.17940934G=	GRCh37
NC_000019.8:g.17801934G=	NCBI36
NG_007273.1:g.22867C= , LRG_77:g.22867C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000526008.6:c.*1747C=	ENSP00000513006.1:n.*1747C=
ENST00000696967.1:n.2367C=
ENST00000696968.1:n.423C=
ENST00000696969.1:n.2147C=
ENST00000458235.7:c.3190C= MANE Select	ENSP00000391676.1:p.Pro1064=
ENST00000458235.5:c.3190C=	ENSP00000391676.1:p.Pro1064=
ENST00000527031.5:n.2279-4815C=
ENST00000527670.5:c.3190C=	ENSP00000432511.1:p.Pro1064=
ENST00000534444.1:c.3190C=	ENSP00000436421.1:p.Pro1064=
NM_000215.3:c.3190C= , LRG_77t1:c.3190C=	NP_000206.2:p.Pro1064=
XM_005259896.2:c.3319C=	XP_005259953.1:p.Pro1107=
XM_006722745.2:c.3190C=	XP_006722808.1:p.Pro1064=
XM_005259896.3:c.3319C=	XP_005259953.1:p.Pro1107=
NM_000215.4:c.3190C= MANE Select	NP_000206.2:p.Pro1064=