Canonical Allele Identifier: CA361966742

Gene: ITK

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.157181111A>T , CM000667.2:g.157181111A>T	GRCh38
NC_000005.9:g.156608122A>T , CM000667.1:g.156608122A>T	GRCh37
NC_000005.8:g.156540700A>T	NCBI36
NG_016276.1:g.5216A>T , LRG_189:g.5216A>T

Transcript Alleles

HGVS	Amino-acid Change
NM_005546.4:c.134A>T MANE Select	NP_005537.3:p.His45Leu
ENST00000422843.8:c.134A>T MANE Select	ENSP00000398655.4:p.His45Leu
NM_005546.3:c.134A>T , LRG_189t1:c.134A>T	NP_005537.3:p.His45Leu
ENST00000422843.7:c.134A>T	ENSP00000398655.3:p.His45Leu
ENST00000517779.1:c.134A>T	ENSP00000431054.1:p.His45Leu
ENST00000519402.5:n.269A>T
ENST00000520555.5:n.272A>T
ENST00000521769.5:c.-238+14965A>T	ENSP00000430327.1:n.-238+14965A>T
ENST00000522616.1:n.275A>T
ENST00000696962.1:c.134A>T	ENSP00000513001.1:p.His45Leu