Canonical Allele Identifier: CA404767534

Gene: JAK3

Linked Data

• MyVariant Identifiers: chr19:g.17945516A>T (hg19) ; chr19:g.17834707A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.17834707A>T , CM000681.2:g.17834707A>T	GRCh38
NC_000019.9:g.17945516A>T , CM000681.1:g.17945516A>T	GRCh37
NC_000019.8:g.17806516A>T	NCBI36
NG_007273.1:g.18285T>A , LRG_77:g.18285T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000526008.6:c.*771T>A	ENSP00000513006.1:n.*771T>A
ENST00000696967.1:n.1391T>A
ENST00000696970.1:n.869T>A
ENST00000458235.7:c.2214T>A MANE Select	ENSP00000391676.1:p.Tyr738Ter
ENST00000458235.5:c.2214T>A	ENSP00000391676.1:p.Tyr738Ter
ENST00000527031.5:n.2278+2020T>A
ENST00000527670.5:c.2214T>A	ENSP00000432511.1:p.Tyr738Ter
ENST00000534444.1:c.2214T>A	ENSP00000436421.1:p.Tyr738Ter
NM_000215.3:c.2214T>A , LRG_77t1:c.2214T>A	NP_000206.2:p.Tyr738Ter
XM_005259896.2:c.2343T>A	XP_005259953.1:p.Tyr781Ter
XM_006722745.2:c.2214T>A	XP_006722808.1:p.Tyr738Ter
XM_011527990.1:c.2343T>A	XP_011526292.1:p.Tyr781Ter
XR_430137.2:n.2353T>A
XM_005259896.3:c.2343T>A	XP_005259953.1:p.Tyr781Ter
NM_000215.4:c.2214T>A MANE Select	NP_000206.2:p.Tyr738Ter