Canonical Allele Identifier: CA404767535

Gene: JAK3

Linked Data

• gnomAD v4: 19-17834708-T-A
• MyVariant Identifiers: chr19:g.17945517T>A (hg19) ; chr19:g.17834708T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.17834708T>A , CM000681.2:g.17834708T>A	GRCh38
NC_000019.9:g.17945517T>A , CM000681.1:g.17945517T>A	GRCh37
NC_000019.8:g.17806517T>A	NCBI36
NG_007273.1:g.18284A>T , LRG_77:g.18284A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000526008.6:c.*770A>T	ENSP00000513006.1:n.*770A>T
ENST00000696967.1:n.1390A>T
ENST00000696970.1:n.868A>T
ENST00000458235.7:c.2213A>T MANE Select	ENSP00000391676.1:p.Tyr738Phe
ENST00000458235.5:c.2213A>T	ENSP00000391676.1:p.Tyr738Phe
ENST00000527031.5:n.2278+2019A>T
ENST00000527670.5:c.2213A>T	ENSP00000432511.1:p.Tyr738Phe
ENST00000534444.1:c.2213A>T	ENSP00000436421.1:p.Tyr738Phe
NM_000215.3:c.2213A>T , LRG_77t1:c.2213A>T	NP_000206.2:p.Tyr738Phe
XM_005259896.2:c.2342A>T	XP_005259953.1:p.Tyr781Phe
XM_006722745.2:c.2213A>T	XP_006722808.1:p.Tyr738Phe
XM_011527990.1:c.2342A>T	XP_011526292.1:p.Tyr781Phe
XR_430137.2:n.2352A>T
XM_005259896.3:c.2342A>T	XP_005259953.1:p.Tyr781Phe
NM_000215.4:c.2213A>T MANE Select	NP_000206.2:p.Tyr738Phe