Canonical Allele Identifier: CA9302185

Gene: JAK3

Linked Data

• ClinVar Variation Id: 532747
• ClinVar RCV Id: RCV000639633
• dbSNP Id: rs143586866
• ExAC: 19:17954247 C / T
• gnomAD v2: 19-17954247-C-T
• gnomAD v3: 19-17843438-C-T
• gnomAD v4: 19-17843438-C-T
• MyVariant Identifiers: chr19:g.17954247C>T (hg19) ; chr19:g.17843438C>T (hg38)
• ERepo: CA9302185/MONDO:0010938/121

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.17843438C>T , CM000681.2:g.17843438C>T	GRCh38
NC_000019.9:g.17954247C>T , CM000681.1:g.17954247C>T	GRCh37
NC_000019.8:g.17815247C>T	NCBI36
NG_007273.1:g.9554G>A , LRG_77:g.9554G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000526008.6:c.362G>A	ENSP00000513006.1:p.Arg121His
ENST00000458235.7:c.362G>A MANE Select	ENSP00000391676.1:p.Arg121His
ENST00000458235.5:c.362G>A	ENSP00000391676.1:p.Arg121His
ENST00000526008.5:n.462G>A
ENST00000527031.5:n.452G>A
ENST00000527670.5:c.362G>A	ENSP00000432511.1:p.Arg121His
ENST00000528293.1:n.377G>A
ENST00000534444.1:c.362G>A	ENSP00000436421.1:p.Arg121His
NM_000215.3:c.362G>A , LRG_77t1:c.362G>A	NP_000206.2:p.Arg121His
XM_005259896.2:c.491G>A	XP_005259953.1:p.Arg164His
XM_006722745.2:c.362G>A	XP_006722808.1:p.Arg121His
XM_011527990.1:c.491G>A	XP_011526292.1:p.Arg164His
XM_011527991.1:c.491G>A	XP_011526293.1:p.Arg164His
XR_430137.2:n.501G>A
XM_005259896.3:c.491G>A	XP_005259953.1:p.Arg164His
XM_011527991.2:c.491G>A	XP_011526293.1:p.Arg164His
NM_000215.4:c.362G>A MANE Select	NP_000206.2:p.Arg121His