Canonical Allele Identifier: CA2326053539

Gene: JAK3

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.17834908C= , CM000681.2:g.17834908C=	GRCh38
NC_000019.9:g.17945717C= , CM000681.1:g.17945717C=	GRCh37
NC_000019.8:g.17806717C=	NCBI36
NG_007273.1:g.18084G= , LRG_77:g.18084G=

Transcript Alleles

HGVS	Amino-acid Change
NM_000215.4:c.2143G= MANE Select	NP_000206.2:p.Val715=
ENST00000458235.7:c.2143G= MANE Select	ENSP00000391676.1:p.Val715=
NM_000215.3:c.2143G= , LRG_77t1:c.2143G=	NP_000206.2:p.Val715=
ENST00000458235.5:c.2143G=	ENSP00000391676.1:p.Val715=
ENST00000526008.6:c.*700G=	ENSP00000513006.1:n.*700G=
ENST00000527031.5:n.2278+1819G=
ENST00000527670.5:c.2143G=	ENSP00000432511.1:p.Val715=
ENST00000534444.1:c.2143G=	ENSP00000436421.1:p.Val715=
ENST00000696967.1:n.1320G=
ENST00000696970.1:n.798G=
XM_005259896.2:c.2272G=	XP_005259953.1:p.Val758=
XM_005259896.3:c.2272G=	XP_005259953.1:p.Val758=
XM_006722745.2:c.2143G=	XP_006722808.1:p.Val715=
XM_011527990.1:c.2272G=	XP_011526292.1:p.Val758=
XR_430137.2:n.2282G=