Canonical Allele Identifier: CA9302211

Gene: JAK3

Linked Data

• ClinVar Variation Id: 892490
• ClinVar RCV Id: RCV001128555
• dbSNP Id: rs3212716
• ExAC: 19:17954597 C / T
• gnomAD v2: 19-17954597-C-T
• gnomAD v3: 19-17843788-C-T
• gnomAD v4: 19-17843788-C-T
• MyVariant Identifiers: chr19:g.17954597C>T (hg19) ; chr19:g.17843788C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.17843788C>T , CM000681.2:g.17843788C>T	GRCh38
NC_000019.9:g.17954597C>T , CM000681.1:g.17954597C>T	GRCh37
NC_000019.8:g.17815597C>T	NCBI36
NG_007273.1:g.9204G>A , LRG_77:g.9204G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000526008.6:c.297G>A	ENSP00000513006.1:p.Leu99=
ENST00000458235.7:c.297G>A MANE Select	ENSP00000391676.1:p.Leu99=
ENST00000458235.5:c.297G>A	ENSP00000391676.1:p.Leu99=
ENST00000526008.5:n.397G>A
ENST00000527031.5:n.387G>A
ENST00000527670.5:c.297G>A	ENSP00000432511.1:p.Leu99=
ENST00000528293.1:n.324-297G>A
ENST00000534444.1:c.297G>A	ENSP00000436421.1:p.Leu99=
NM_000215.3:c.297G>A , LRG_77t1:c.297G>A	NP_000206.2:p.Leu99=
XM_005259896.2:c.426G>A	XP_005259953.1:p.Leu142=
XM_006722745.2:c.297G>A	XP_006722808.1:p.Leu99=
XM_011527990.1:c.426G>A	XP_011526292.1:p.Leu142=
XM_011527991.1:c.426G>A	XP_011526293.1:p.Leu142=
XR_430137.2:n.436G>A
XM_005259896.3:c.426G>A	XP_005259953.1:p.Leu142=
XM_011527991.2:c.426G>A	XP_011526293.1:p.Leu142=
NM_000215.4:c.297G>A MANE Select	NP_000206.2:p.Leu99=