Canonical Allele Identifier: CA404768029

Gene: JAK3

Linked Data

• dbSNP Id: rs2147682522
• gnomAD v4: 19-17834997-G-A
• MyVariant Identifiers: chr19:g.17945806G>A (hg19) ; chr19:g.17834997G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.17834997G>A , CM000681.2:g.17834997G>A	GRCh38
NC_000019.9:g.17945806G>A , CM000681.1:g.17945806G>A	GRCh37
NC_000019.8:g.17806806G>A	NCBI36
NG_007273.1:g.17995C>T , LRG_77:g.17995C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000526008.6:c.*611C>T	ENSP00000513006.1:n.*611C>T
ENST00000696967.1:n.1231C>T
ENST00000696970.1:n.709C>T
ENST00000458235.7:c.2054C>T MANE Select	ENSP00000391676.1:p.Thr685Ile
ENST00000458235.5:c.2054C>T	ENSP00000391676.1:p.Thr685Ile
ENST00000527031.5:n.2278+1730C>T
ENST00000527670.5:c.2054C>T	ENSP00000432511.1:p.Thr685Ile
ENST00000534444.1:c.2054C>T	ENSP00000436421.1:p.Thr685Ile
NM_000215.3:c.2054C>T , LRG_77t1:c.2054C>T	NP_000206.2:p.Thr685Ile
XM_005259896.2:c.2183C>T	XP_005259953.1:p.Thr728Ile
XM_006722745.2:c.2054C>T	XP_006722808.1:p.Thr685Ile
XM_011527990.1:c.2183C>T	XP_011526292.1:p.Thr728Ile
XR_430137.2:n.2193C>T
XM_005259896.3:c.2183C>T	XP_005259953.1:p.Thr728Ile
NM_000215.4:c.2054C>T MANE Select	NP_000206.2:p.Thr685Ile