Canonical Allele Identifier: CA9301961

Gene: JAK3

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.17840279C>T , CM000681.2:g.17840279C>T	GRCh38
NC_000019.9:g.17951088C>T , CM000681.1:g.17951088C>T	GRCh37
NC_000019.8:g.17812088C>T	NCBI36
NG_007273.1:g.12713G>A , LRG_77:g.12713G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_000215.4:c.1205G>A MANE Select	NP_000206.2:p.Arg402His
ENST00000458235.7:c.1205G>A MANE Select	ENSP00000391676.1:p.Arg402His
NM_000215.3:c.1205G>A , LRG_77t1:c.1205G>A	NP_000206.2:p.Arg402His
ENST00000458235.5:c.1205G>A	ENSP00000391676.1:p.Arg402His
ENST00000526008.5:n.1305G>A
ENST00000526008.6:c.1205G>A	ENSP00000513006.1:p.Arg402His
ENST00000527031.5:n.1295G>A
ENST00000527670.5:c.1205G>A	ENSP00000432511.1:p.Arg402His
ENST00000528705.1:n.554G>A
ENST00000534444.1:c.1205G>A	ENSP00000436421.1:p.Arg402His
ENST00000696967.1:n.382G>A
XM_005259896.2:c.1334G>A	XP_005259953.1:p.Arg445His
XM_005259896.3:c.1334G>A	XP_005259953.1:p.Arg445His
XM_006722745.2:c.1205G>A	XP_006722808.1:p.Arg402His
XM_011527990.1:c.1334G>A	XP_011526292.1:p.Arg445His
XM_011527991.1:c.1334G>A	XP_011526293.1:p.Arg445His
XM_011527991.2:c.1334G>A	XP_011526293.1:p.Arg445His
XR_430137.2:n.1344G>A