Canonical Allele Identifier: CA2326053587

Gene: JAK3

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.17835021G= , CM000681.2:g.17835021G=	GRCh38
NC_000019.9:g.17945830G= , CM000681.1:g.17945830G=	GRCh37
NC_000019.8:g.17806830G=	NCBI36
NG_007273.1:g.17971C= , LRG_77:g.17971C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000526008.6:c.*605-18C=	ENSP00000513006.1:n.*605-18C=
ENST00000696967.1:n.1225-18C=
ENST00000696970.1:n.703-18C=
ENST00000458235.7:c.2048-18C= MANE Select	ENSP00000391676.1:n.2048-18C=
ENST00000458235.5:c.2048-18C=	ENSP00000391676.1:n.2048-18C=
ENST00000527031.5:n.2278+1706C=
ENST00000527670.5:c.2048-18C=	ENSP00000432511.1:n.2048-18C=
ENST00000534444.1:c.2048-18C=	ENSP00000436421.1:n.2048-18C=
NM_000215.3:c.2048-18C= , LRG_77t1:c.2048-18C=	NP_000206.2:n.2048-18C=
XM_005259896.2:c.2177-18C=	XP_005259953.1:n.2177-18C=
XM_006722745.2:c.2048-18C=	XP_006722808.1:n.2048-18C=
XM_011527990.1:c.2177-18C=	XP_011526292.1:n.2177-18C=
XR_430137.2:n.2187-18C=
XM_005259896.3:c.2177-18C=	XP_005259953.1:n.2177-18C=
NM_000215.4:c.2048-18C= MANE Select	NP_000206.2:n.2048-18C=