Canonical Allele Identifier: CA2326057645

Gene: JAK3

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.17843415G= , CM000681.2:g.17843415G=	GRCh38
NC_000019.9:g.17954224G= , CM000681.1:g.17954224G=	GRCh37
NC_000019.8:g.17815224G=	NCBI36
NG_007273.1:g.9577C= , LRG_77:g.9577C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000526008.6:c.385C=	ENSP00000513006.1:p.Leu129=
ENST00000458235.7:c.385C= MANE Select	ENSP00000391676.1:p.Leu129=
ENST00000458235.5:c.385C=	ENSP00000391676.1:p.Leu129=
ENST00000526008.5:n.485C=
ENST00000527031.5:n.475C=
ENST00000527670.5:c.385C=	ENSP00000432511.1:p.Leu129=
ENST00000528293.1:n.400C=
ENST00000534444.1:c.385C=	ENSP00000436421.1:p.Leu129=
NM_000215.3:c.385C= , LRG_77t1:c.385C=	NP_000206.2:p.Leu129=
XM_005259896.2:c.514C=	XP_005259953.1:p.Leu172=
XM_006722745.2:c.385C=	XP_006722808.1:p.Leu129=
XM_011527990.1:c.514C=	XP_011526292.1:p.Leu172=
XM_011527991.1:c.514C=	XP_011526293.1:p.Leu172=
XR_430137.2:n.524C=
XM_005259896.3:c.514C=	XP_005259953.1:p.Leu172=
XM_011527991.2:c.514C=	XP_011526293.1:p.Leu172=
NM_000215.4:c.385C= MANE Select	NP_000206.2:p.Leu129=