Canonical Allele Identifier: CA404765720

Gene: JAK3

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.17831767G>T , CM000681.2:g.17831767G>T	GRCh38
NC_000019.9:g.17942576G>T , CM000681.1:g.17942576G>T	GRCh37
NC_000019.8:g.17803576G>T	NCBI36
NG_007273.1:g.21225C>A , LRG_77:g.21225C>A

Transcript Alleles

HGVS	Amino-acid Change
NM_000215.4:c.2712C>A MANE Select	NP_000206.2:p.Tyr904Ter
ENST00000458235.7:c.2712C>A MANE Select	ENSP00000391676.1:p.Tyr904Ter
NM_000215.3:c.2712C>A , LRG_77t1:c.2712C>A	NP_000206.2:p.Tyr904Ter
ENST00000458235.5:c.2712C>A	ENSP00000391676.1:p.Tyr904Ter
ENST00000526008.6:c.*1269C>A	ENSP00000513006.1:n.*1269C>A
ENST00000527031.5:n.2278+4960C>A
ENST00000527670.5:c.2712C>A	ENSP00000432511.1:p.Tyr904Ter
ENST00000534444.1:c.2712C>A	ENSP00000436421.1:p.Tyr904Ter
ENST00000696967.1:n.1889C>A
ENST00000696969.1:n.1669C>A
XM_005259896.2:c.2841C>A	XP_005259953.1:p.Tyr947Ter
XM_005259896.3:c.2841C>A	XP_005259953.1:p.Tyr947Ter
XM_006722745.2:c.2712C>A	XP_006722808.1:p.Tyr904Ter
XR_430137.2:n.2936C>A