Canonical Allele Identifier: CA9301872

Gene: JAK3

Linked Data

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.17838329C>A , CM000681.2:g.17838329C>A	GRCh38
NC_000019.9:g.17949138C>A , CM000681.1:g.17949138C>A	GRCh37
NC_000019.8:g.17810138C>A	NCBI36
NG_007273.1:g.14663G>T , LRG_77:g.14663G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000526008.6:c.*60G>T	ENSP00000513006.1:n.*60G>T
ENST00000696967.1:n.680G>T
ENST00000696970.1:n.158G>T
ENST00000458235.7:c.1503G>T MANE Select	ENSP00000391676.1:p.Gln501His
ENST00000458235.5:c.1503G>T	ENSP00000391676.1:p.Gln501His
ENST00000526008.5:n.1717G>T
ENST00000527031.5:n.1593G>T
ENST00000527670.5:c.1503G>T	ENSP00000432511.1:p.Gln501His
ENST00000534444.1:c.1503G>T	ENSP00000436421.1:p.Gln501His
NM_000215.3:c.1503G>T , LRG_77t1:c.1503G>T	NP_000206.2:p.Gln501His
XM_005259896.2:c.1632G>T	XP_005259953.1:p.Gln544His
XM_006722745.2:c.1503G>T	XP_006722808.1:p.Gln501His
XM_011527990.1:c.1632G>T	XP_011526292.1:p.Gln544His
XM_011527991.1:c.1632G>T	XP_011526293.1:p.Gln544His
XR_430137.2:n.1642G>T
XM_005259896.3:c.1632G>T	XP_005259953.1:p.Gln544His
XM_011527991.2:c.1632G>T	XP_011526293.1:p.Gln544His
NM_000215.4:c.1503G>T MANE Select	NP_000206.2:p.Gln501His