Canonical Allele Identifier: CA994150976

Gene: JAK3

Linked Data

• dbSNP Id: rs2094246372
• gnomAD v3: 19-17844133-G-A
• gnomAD v4: 19-17844133-G-A

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.17844133G>A , CM000681.2:g.17844133G>A	GRCh38
NC_000019.9:g.17954942G>A , CM000681.1:g.17954942G>A	GRCh37
NC_000019.8:g.17815942G>A	NCBI36
NG_007273.1:g.8859C>T , LRG_77:g.8859C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000526008.6:c.184+101C>T	ENSP00000513006.1:n.184+101C>T
ENST00000458235.7:c.184+101C>T MANE Select	ENSP00000391676.1:n.184+101C>T
ENST00000458235.5:c.184+101C>T	ENSP00000391676.1:n.184+101C>T
ENST00000526008.5:n.284+101C>T
ENST00000527031.5:n.274+101C>T
ENST00000527670.5:c.184+101C>T	ENSP00000432511.1:n.184+101C>T
ENST00000528293.1:n.323+101C>T
ENST00000534444.1:c.184+101C>T	ENSP00000436421.1:n.184+101C>T
NM_000215.3:c.184+101C>T , LRG_77t1:c.184+101C>T	NP_000206.2:n.184+101C>T
XM_005259896.2:c.313+101C>T	XP_005259953.1:n.313+101C>T
XM_006722745.2:c.184+101C>T	XP_006722808.1:n.184+101C>T
XM_011527990.1:c.313+101C>T	XP_011526292.1:n.313+101C>T
XM_011527991.1:c.313+101C>T	XP_011526293.1:n.313+101C>T
XR_430137.2:n.323+101C>T
XM_005259896.3:c.313+101C>T	XP_005259953.1:n.313+101C>T
XM_011527991.2:c.313+101C>T	XP_011526293.1:n.313+101C>T
NM_000215.4:c.184+101C>T MANE Select	NP_000206.2:n.184+101C>T