Canonical Allele Identifier: CA2326053470

Gene: JAK3

Linked Data

• dbSNP Id: rs2094220841
• gnomAD v4: 19-17834766-C-CA

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.17834767dup , CM000681.2:g.17834767dup	GRCh38
NC_000019.9:g.17945576dup , CM000681.1:g.17945576dup	GRCh37
NC_000019.8:g.17806576dup	NCBI36
NG_007273.1:g.18225dup , LRG_77:g.18225dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000526008.6:c.*757-46dup	ENSP00000513006.1:n.*757-46dup
ENST00000696967.1:n.1377-46dup
ENST00000696970.1:n.855-46dup
ENST00000458235.7:c.2200-46dup MANE Select	ENSP00000391676.1:n.2200-46dup
ENST00000458235.5:c.2200-46dup	ENSP00000391676.1:n.2200-46dup
ENST00000527031.5:n.2278+1960dup
ENST00000527670.5:c.2200-46dup	ENSP00000432511.1:n.2200-46dup
ENST00000534444.1:c.2200-46dup	ENSP00000436421.1:n.2200-46dup
NM_000215.3:c.2200-46dup , LRG_77t1:c.2200-46dup	NP_000206.2:n.2200-46dup
XM_005259896.2:c.2329-46dup	XP_005259953.1:n.2329-46dup
XM_006722745.2:c.2200-46dup	XP_006722808.1:n.2200-46dup
XM_011527990.1:c.2329-46dup	XP_011526292.1:n.2329-46dup
XR_430137.2:n.2339-46dup
XM_005259896.3:c.2329-46dup	XP_005259953.1:n.2329-46dup
NM_000215.4:c.2200-46dup MANE Select	NP_000206.2:n.2200-46dup