Canonical Allele Identifier: CA2326057481

Gene: JAK3

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.17843081G= , CM000681.2:g.17843081G=	GRCh38
NC_000019.9:g.17953890G= , CM000681.1:g.17953890G=	GRCh37
NC_000019.8:g.17814890G=	NCBI36
NG_007273.1:g.9911C= , LRG_77:g.9911C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000526008.6:c.512C=	ENSP00000513006.1:p.Ala171=
ENST00000458235.7:c.512C= MANE Select	ENSP00000391676.1:p.Ala171=
ENST00000458235.5:c.512C=	ENSP00000391676.1:p.Ala171=
ENST00000526008.5:n.612C=
ENST00000527031.5:n.602C=
ENST00000527670.5:c.512C=	ENSP00000432511.1:p.Ala171=
ENST00000528293.1:n.527C=
ENST00000534444.1:c.512C=	ENSP00000436421.1:p.Ala171=
NM_000215.3:c.512C= , LRG_77t1:c.512C=	NP_000206.2:p.Ala171=
XM_005259896.2:c.641C=	XP_005259953.1:p.Ala214=
XM_006722745.2:c.512C=	XP_006722808.1:p.Ala171=
XM_011527990.1:c.641C=	XP_011526292.1:p.Ala214=
XM_011527991.1:c.641C=	XP_011526293.1:p.Ala214=
XR_430137.2:n.651C=
XM_005259896.3:c.641C=	XP_005259953.1:p.Ala214=
XM_011527991.2:c.641C=	XP_011526293.1:p.Ala214=
NM_000215.4:c.512C= MANE Select	NP_000206.2:p.Ala171=