Canonical Allele Identifier: CA9301675

Gene: JAK3

Linked Data

• ClinVar Variation Id: 2577241
• ClinVar RCV Id: RCV003324318
• dbSNP Id: rs140655992
• ExAC: 19:17945719 G / A
• gnomAD v2: 19-17945719-G-A
• gnomAD v3: 19-17834910-G-A
• gnomAD v4: 19-17834910-G-A
• MyVariant Identifiers: chr19:g.17945719G>A (hg19) ; chr19:g.17834910G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.17834910G>A , CM000681.2:g.17834910G>A	GRCh38
NC_000019.9:g.17945719G>A , CM000681.1:g.17945719G>A	GRCh37
NC_000019.8:g.17806719G>A	NCBI36
NG_007273.1:g.18082C>T , LRG_77:g.18082C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000526008.6:c.*698C>T	ENSP00000513006.1:n.*698C>T
ENST00000696967.1:n.1318C>T
ENST00000696970.1:n.796C>T
ENST00000458235.7:c.2141C>T MANE Select	ENSP00000391676.1:p.Thr714Met
ENST00000458235.5:c.2141C>T	ENSP00000391676.1:p.Thr714Met
ENST00000527031.5:n.2278+1817C>T
ENST00000527670.5:c.2141C>T	ENSP00000432511.1:p.Thr714Met
ENST00000534444.1:c.2141C>T	ENSP00000436421.1:p.Thr714Met
NM_000215.3:c.2141C>T , LRG_77t1:c.2141C>T	NP_000206.2:p.Thr714Met
XM_005259896.2:c.2270C>T	XP_005259953.1:p.Thr757Met
XM_006722745.2:c.2141C>T	XP_006722808.1:p.Thr714Met
XM_011527990.1:c.2270C>T	XP_011526292.1:p.Thr757Met
XR_430137.2:n.2280C>T
XM_005259896.3:c.2270C>T	XP_005259953.1:p.Thr757Met
NM_000215.4:c.2141C>T MANE Select	NP_000206.2:p.Thr714Met