Canonical Allele Identifier: CA994143357

Gene: JAK3

Linked Data

• dbSNP Id: rs2094210520
• gnomAD v3: 19-17829843-T-TC
• gnomAD v4: 19-17829843-T-TC

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.17829844dup , CM000681.2:g.17829844dup	GRCh38
NC_000019.9:g.17940653dup , CM000681.1:g.17940653dup	GRCh37
NC_000019.8:g.17801653dup	NCBI36
NG_007273.1:g.23148dup , LRG_77:g.23148dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000526008.6:c.*1764+264dup	ENSP00000513006.1:n.*1764+264dup
ENST00000696967.1:n.2384+264dup
ENST00000696968.1:n.440+264dup
ENST00000696969.1:n.2164+264dup
ENST00000458235.7:c.3207+264dup MANE Select	ENSP00000391676.1:n.3207+264dup
ENST00000458235.5:c.3207+264dup	ENSP00000391676.1:n.3207+264dup
ENST00000527031.5:n.2279-4534dup
ENST00000527670.5:c.3207+264dup	ENSP00000432511.1:n.3207+264dup
ENST00000534444.1:c.*186dup	ENSP00000436421.1:n.*186dup
NM_000215.3:c.3207+264dup , LRG_77t1:c.3207+264dup	NP_000206.2:n.3207+264dup
XM_005259896.2:c.3336+264dup	XP_005259953.1:n.3336+264dup
XM_006722745.2:c.3207+264dup	XP_006722808.1:n.3207+264dup
XM_005259896.3:c.3336+264dup	XP_005259953.1:n.3336+264dup
NM_000215.4:c.3207+264dup MANE Select	NP_000206.2:n.3207+264dup