Canonical Allele Identifier: CA2326055057

Gene: JAK3

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.17838329C= , CM000681.2:g.17838329C=	GRCh38
NC_000019.9:g.17949138C= , CM000681.1:g.17949138C=	GRCh37
NC_000019.8:g.17810138C=	NCBI36
NG_007273.1:g.14663G= , LRG_77:g.14663G=

Transcript Alleles

HGVS	Amino-acid Change
NM_000215.4:c.1503G= MANE Select	NP_000206.2:p.Gln501=
ENST00000458235.7:c.1503G= MANE Select	ENSP00000391676.1:p.Gln501=
NM_000215.3:c.1503G= , LRG_77t1:c.1503G=	NP_000206.2:p.Gln501=
ENST00000458235.5:c.1503G=	ENSP00000391676.1:p.Gln501=
ENST00000526008.5:n.1717G=
ENST00000526008.6:c.*60G=	ENSP00000513006.1:n.*60G=
ENST00000527031.5:n.1593G=
ENST00000527670.5:c.1503G=	ENSP00000432511.1:p.Gln501=
ENST00000534444.1:c.1503G=	ENSP00000436421.1:p.Gln501=
ENST00000696967.1:n.680G=
ENST00000696970.1:n.158G=
XM_005259896.2:c.1632G=	XP_005259953.1:p.Gln544=
XM_005259896.3:c.1632G=	XP_005259953.1:p.Gln544=
XM_006722745.2:c.1503G=	XP_006722808.1:p.Gln501=
XM_011527990.1:c.1632G=	XP_011526292.1:p.Gln544=
XM_011527991.1:c.1632G=	XP_011526293.1:p.Gln544=
XM_011527991.2:c.1632G=	XP_011526293.1:p.Gln544=
XR_430137.2:n.1642G=