Canonical Allele Identifier: CA2573156189

Gene: JAK3

Linked Data

• ClinVar Variation Id: 1529039
• ClinVar RCV Id: RCV002086927
• dbSNP Id: rs2147699635

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.17843499dup , CM000681.2:g.17843499dup	GRCh38
NC_000019.9:g.17954308dup , CM000681.1:g.17954308dup	GRCh37
NC_000019.8:g.17815308dup	NCBI36
NG_007273.1:g.9494dup , LRG_77:g.9494dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000526008.6:c.309-7dup	ENSP00000513006.1:n.309-7dup
ENST00000458235.7:c.309-7dup MANE Select	ENSP00000391676.1:n.309-7dup
ENST00000458235.5:c.309-7dup	ENSP00000391676.1:n.309-7dup
ENST00000526008.5:n.409-7dup
ENST00000527031.5:n.399-7dup
ENST00000527670.5:c.309-7dup	ENSP00000432511.1:n.309-7dup
ENST00000528293.1:n.324-7dup
ENST00000534444.1:c.309-7dup	ENSP00000436421.1:n.309-7dup
NM_000215.3:c.309-7dup , LRG_77t1:c.309-7dup	NP_000206.2:n.309-7dup
XM_005259896.2:c.438-7dup	XP_005259953.1:n.438-7dup
XM_006722745.2:c.309-7dup	XP_006722808.1:n.309-7dup
XM_011527990.1:c.438-7dup	XP_011526292.1:n.438-7dup
XM_011527991.1:c.438-7dup	XP_011526293.1:n.438-7dup
XR_430137.2:n.448-7dup
XM_005259896.3:c.438-7dup	XP_005259953.1:n.438-7dup
XM_011527991.2:c.438-7dup	XP_011526293.1:n.438-7dup
NM_000215.4:c.309-7dup MANE Select	NP_000206.2:n.309-7dup