Canonical Allele Identifier: CA404764170

Gene: JAK3

Linked Data

• MyVariant Identifiers: chr19:g.17940993A>T (hg19) ; chr19:g.17830184A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.17830184A>T , CM000681.2:g.17830184A>T	GRCh38
NC_000019.9:g.17940993A>T , CM000681.1:g.17940993A>T	GRCh37
NC_000019.8:g.17801993A>T	NCBI36
NG_007273.1:g.22808T>A , LRG_77:g.22808T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000526008.6:c.*1688T>A	ENSP00000513006.1:n.*1688T>A
ENST00000696967.1:n.2308T>A
ENST00000696968.1:n.364T>A
ENST00000696969.1:n.2088T>A
ENST00000458235.7:c.3131T>A MANE Select	ENSP00000391676.1:p.Val1044Asp
ENST00000458235.5:c.3131T>A	ENSP00000391676.1:p.Val1044Asp
ENST00000527031.5:n.2279-4874T>A
ENST00000527670.5:c.3131T>A	ENSP00000432511.1:p.Val1044Asp
ENST00000534444.1:c.3131T>A	ENSP00000436421.1:p.Val1044Asp
NM_000215.3:c.3131T>A , LRG_77t1:c.3131T>A	NP_000206.2:p.Val1044Asp
XM_005259896.2:c.3260T>A	XP_005259953.1:p.Val1087Asp
XM_006722745.2:c.3131T>A	XP_006722808.1:p.Val1044Asp
XM_005259896.3:c.3260T>A	XP_005259953.1:p.Val1087Asp
NM_000215.4:c.3131T>A MANE Select	NP_000206.2:p.Val1044Asp