Canonical Allele Identifier: CA306136434

Gene: JAK3

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.17839567G>A , CM000681.2:g.17839567G>A	GRCh38
NC_000019.9:g.17950376G>A , CM000681.1:g.17950376G>A	GRCh37
NC_000019.8:g.17811376G>A	NCBI36
NG_007273.1:g.13425C>T , LRG_77:g.13425C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_000215.4:c.1351C>T MANE Select	NP_000206.2:p.Arg451Ter
ENST00000458235.7:c.1351C>T MANE Select	ENSP00000391676.1:p.Arg451Ter
NM_000215.3:c.1351C>T , LRG_77t1:c.1351C>T	NP_000206.2:p.Arg451Ter
ENST00000458235.5:c.1351C>T	ENSP00000391676.1:p.Arg451Ter
ENST00000526008.5:n.1451C>T
ENST00000526008.6:c.1351C>T	ENSP00000513006.1:p.Arg451Ter
ENST00000527031.5:n.1441C>T
ENST00000527670.5:c.1351C>T	ENSP00000432511.1:p.Arg451Ter
ENST00000528705.1:n.700C>T
ENST00000534444.1:c.1351C>T	ENSP00000436421.1:p.Arg451Ter
ENST00000696967.1:n.528C>T
XM_005259896.2:c.1480C>T	XP_005259953.1:p.Arg494Ter
XM_005259896.3:c.1480C>T	XP_005259953.1:p.Arg494Ter
XM_006722745.2:c.1351C>T	XP_006722808.1:p.Arg451Ter
XM_011527990.1:c.1480C>T	XP_011526292.1:p.Arg494Ter
XM_011527991.1:c.1480C>T	XP_011526293.1:p.Arg494Ter
XM_011527991.2:c.1480C>T	XP_011526293.1:p.Arg494Ter
XR_430137.2:n.1490C>T