Canonical Allele Identifier: CA404764193

Gene: JAK3

Linked Data

• gnomAD v4: 19-17830190-C-T
• MyVariant Identifiers: chr19:g.17940999C>T (hg19) ; chr19:g.17830190C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.17830190C>T , CM000681.2:g.17830190C>T	GRCh38
NC_000019.9:g.17940999C>T , CM000681.1:g.17940999C>T	GRCh37
NC_000019.8:g.17801999C>T	NCBI36
NG_007273.1:g.22802G>A , LRG_77:g.22802G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000526008.6:c.*1682G>A	ENSP00000513006.1:n.*1682G>A
ENST00000696967.1:n.2302G>A
ENST00000696968.1:n.358G>A
ENST00000696969.1:n.2082G>A
ENST00000458235.7:c.3125G>A MANE Select	ENSP00000391676.1:p.Arg1042Gln
ENST00000458235.5:c.3125G>A	ENSP00000391676.1:p.Arg1042Gln
ENST00000527031.5:n.2279-4880G>A
ENST00000527670.5:c.3125G>A	ENSP00000432511.1:p.Arg1042Gln
ENST00000534444.1:c.3125G>A	ENSP00000436421.1:p.Arg1042Gln
NM_000215.3:c.3125G>A , LRG_77t1:c.3125G>A	NP_000206.2:p.Arg1042Gln
XM_005259896.2:c.3254G>A	XP_005259953.1:p.Arg1085Gln
XM_006722745.2:c.3125G>A	XP_006722808.1:p.Arg1042Gln
XM_005259896.3:c.3254G>A	XP_005259953.1:p.Arg1085Gln
NM_000215.4:c.3125G>A MANE Select	NP_000206.2:p.Arg1042Gln