Canonical Allele Identifier: CA2576717127

Gene: JAK3

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.17830626G>A , CM000681.2:g.17830626G>A	GRCh38
NC_000019.9:g.17941435G>A , CM000681.1:g.17941435G>A	GRCh37
NC_000019.8:g.17802435G>A	NCBI36
NG_007273.1:g.22366C>T , LRG_77:g.22366C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000526008.6:c.*1536-6C>T	ENSP00000513006.1:n.*1536-6C>T
ENST00000696967.1:n.2156-6C>T
ENST00000696968.1:n.206C>T
ENST00000696969.1:n.1936-6C>T
ENST00000458235.7:c.2979-6C>T MANE Select	ENSP00000391676.1:n.2979-6C>T
ENST00000458235.5:c.2979-6C>T	ENSP00000391676.1:n.2979-6C>T
ENST00000527031.5:n.2279-5316C>T
ENST00000527670.5:c.2979-6C>T	ENSP00000432511.1:n.2979-6C>T
ENST00000534444.1:c.2979-6C>T	ENSP00000436421.1:n.2979-6C>T
NM_000215.3:c.2979-6C>T , LRG_77t1:c.2979-6C>T	NP_000206.2:n.2979-6C>T
XM_005259896.2:c.3108-6C>T	XP_005259953.1:n.3108-6C>T
XM_006722745.2:c.2979-6C>T	XP_006722808.1:n.2979-6C>T
XM_005259896.3:c.3108-6C>T	XP_005259953.1:n.3108-6C>T
NM_000215.4:c.2979-6C>T MANE Select	NP_000206.2:n.2979-6C>T