Canonical Allele Identifier: CA2326051265

Gene: JAK3

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.17830123A= , CM000681.2:g.17830123A=	GRCh38
NC_000019.9:g.17940932A= , CM000681.1:g.17940932A=	GRCh37
NC_000019.8:g.17801932A=	NCBI36
NG_007273.1:g.22869T= , LRG_77:g.22869T=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000526008.6:c.*1749T=	ENSP00000513006.1:n.*1749T=
ENST00000696967.1:n.2369T=
ENST00000696968.1:n.425T=
ENST00000696969.1:n.2149T=
ENST00000458235.7:c.3192T= MANE Select	ENSP00000391676.1:p.Pro1064=
ENST00000458235.5:c.3192T=	ENSP00000391676.1:p.Pro1064=
ENST00000527031.5:n.2279-4813T=
ENST00000527670.5:c.3192T=	ENSP00000432511.1:p.Pro1064=
ENST00000534444.1:c.3192T=	ENSP00000436421.1:p.Pro1064=
NM_000215.3:c.3192T= , LRG_77t1:c.3192T=	NP_000206.2:p.Pro1064=
XM_005259896.2:c.3321T=	XP_005259953.1:p.Pro1107=
XM_006722745.2:c.3192T=	XP_006722808.1:p.Pro1064=
XM_005259896.3:c.3321T=	XP_005259953.1:p.Pro1107=
NM_000215.4:c.3192T= MANE Select	NP_000206.2:p.Pro1064=