Canonical Allele Identifier: CA9302164

Gene: JAK3

Linked Data

• ClinVar Variation Id: 418266
• ClinVar RCV Id: RCV000479086
• dbSNP Id: rs773590163
• ExAC: 19:17953978 G / A
• gnomAD v2: 19-17953978-G-A
• gnomAD v3: 19-17843169-G-A
• gnomAD v4: 19-17843169-G-A
• MyVariant Identifiers: chr19:g.17953978G>A (hg19) ; chr19:g.17843169G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.17843169G>A , CM000681.2:g.17843169G>A	GRCh38
NC_000019.9:g.17953978G>A , CM000681.1:g.17953978G>A	GRCh37
NC_000019.8:g.17814978G>A	NCBI36
NG_007273.1:g.9823C>T , LRG_77:g.9823C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000526008.6:c.424C>T	ENSP00000513006.1:p.Arg142Cys
ENST00000458235.7:c.424C>T MANE Select	ENSP00000391676.1:p.Arg142Cys
ENST00000458235.5:c.424C>T	ENSP00000391676.1:p.Arg142Cys
ENST00000526008.5:n.524C>T
ENST00000527031.5:n.514C>T
ENST00000527670.5:c.424C>T	ENSP00000432511.1:p.Arg142Cys
ENST00000528293.1:n.439C>T
ENST00000534444.1:c.424C>T	ENSP00000436421.1:p.Arg142Cys
NM_000215.3:c.424C>T , LRG_77t1:c.424C>T	NP_000206.2:p.Arg142Cys
XM_005259896.2:c.553C>T	XP_005259953.1:p.Arg185Cys
XM_006722745.2:c.424C>T	XP_006722808.1:p.Arg142Cys
XM_011527990.1:c.553C>T	XP_011526292.1:p.Arg185Cys
XM_011527991.1:c.553C>T	XP_011526293.1:p.Arg185Cys
XR_430137.2:n.563C>T
XM_005259896.3:c.553C>T	XP_005259953.1:p.Arg185Cys
XM_011527991.2:c.553C>T	XP_011526293.1:p.Arg185Cys
NM_000215.4:c.424C>T MANE Select	NP_000206.2:p.Arg142Cys