Canonical Allele Identifier: CA404764797

Gene: JAK3

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.17830610C>A , CM000681.2:g.17830610C>A	GRCh38
NC_000019.9:g.17941419C>A , CM000681.1:g.17941419C>A	GRCh37
NC_000019.8:g.17802419C>A	NCBI36
NG_007273.1:g.22382G>T , LRG_77:g.22382G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000526008.6:c.*1546G>T	ENSP00000513006.1:n.*1546G>T
ENST00000696967.1:n.2166G>T
ENST00000696968.1:n.222G>T
ENST00000696969.1:n.1946G>T
ENST00000458235.7:c.2989G>T MANE Select	ENSP00000391676.1:p.Glu997Ter
ENST00000458235.5:c.2989G>T	ENSP00000391676.1:p.Glu997Ter
ENST00000527031.5:n.2279-5300G>T
ENST00000527670.5:c.2989G>T	ENSP00000432511.1:p.Glu997Ter
ENST00000534444.1:c.2989G>T	ENSP00000436421.1:p.Glu997Ter
NM_000215.3:c.2989G>T , LRG_77t1:c.2989G>T	NP_000206.2:p.Glu997Ter
XM_005259896.2:c.3118G>T	XP_005259953.1:p.Glu1040Ter
XM_006722745.2:c.2989G>T	XP_006722808.1:p.Glu997Ter
XM_005259896.3:c.3118G>T	XP_005259953.1:p.Glu1040Ter
NM_000215.4:c.2989G>T MANE Select	NP_000206.2:p.Glu997Ter