Canonical Allele Identifier: CA404764184

Gene: JAK3

Linked Data

• MyVariant Identifiers: chr19:g.17940996T>A (hg19) ; chr19:g.17830187T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.17830187T>A , CM000681.2:g.17830187T>A	GRCh38
NC_000019.9:g.17940996T>A , CM000681.1:g.17940996T>A	GRCh37
NC_000019.8:g.17801996T>A	NCBI36
NG_007273.1:g.22805A>T , LRG_77:g.22805A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000526008.6:c.*1685A>T	ENSP00000513006.1:n.*1685A>T
ENST00000696967.1:n.2305A>T
ENST00000696968.1:n.361A>T
ENST00000696969.1:n.2085A>T
ENST00000458235.7:c.3128A>T MANE Select	ENSP00000391676.1:p.Asp1043Val
ENST00000458235.5:c.3128A>T	ENSP00000391676.1:p.Asp1043Val
ENST00000527031.5:n.2279-4877A>T
ENST00000527670.5:c.3128A>T	ENSP00000432511.1:p.Asp1043Val
ENST00000534444.1:c.3128A>T	ENSP00000436421.1:p.Asp1043Val
NM_000215.3:c.3128A>T , LRG_77t1:c.3128A>T	NP_000206.2:p.Asp1043Val
XM_005259896.2:c.3257A>T	XP_005259953.1:p.Asp1086Val
XM_006722745.2:c.3128A>T	XP_006722808.1:p.Asp1043Val
XM_005259896.3:c.3257A>T	XP_005259953.1:p.Asp1086Val
NM_000215.4:c.3128A>T MANE Select	NP_000206.2:p.Asp1043Val