Canonical Allele Identifier: CA9301350

Gene: JAK3

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.17826810C>T , CM000681.2:g.17826810C>T	GRCh38
NC_000019.9:g.17937619C>T , CM000681.1:g.17937619C>T	GRCh37
NC_000019.8:g.17798619C>T	NCBI36
NG_007273.1:g.26182G>A , LRG_77:g.26182G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000526008.6:c.*1865G>A	ENSP00000513006.1:n.*1865G>A
ENST00000696967.1:n.2485G>A
ENST00000696968.1:n.541G>A
ENST00000696969.1:n.2265G>A
ENST00000458235.7:c.3308G>A MANE Select	ENSP00000391676.1:p.Arg1103Gln
ENST00000458235.5:c.3308G>A	ENSP00000391676.1:p.Arg1103Gln
ENST00000527031.5:n.2279-1500G>A
ENST00000527670.5:c.3308G>A	ENSP00000432511.1:p.Arg1103Gln
NM_000215.3:c.3308G>A , LRG_77t1:c.3308G>A	NP_000206.2:p.Arg1103Gln
XM_005259896.2:c.3437G>A	XP_005259953.1:p.Arg1146Gln
XM_006722745.2:c.3308G>A	XP_006722808.1:p.Arg1103Gln
XM_005259896.3:c.3437G>A	XP_005259953.1:p.Arg1146Gln
NM_000215.4:c.3308G>A MANE Select	NP_000206.2:p.Arg1103Gln