Canonical Allele Identifier: CA361958967

Gene: ITK

Linked Data

• gnomAD v4: 5-157241685-G-T
• MyVariant Identifiers: chr5:g.156668695G>T (hg19) ; chr5:g.157241685G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.157241685G>T , CM000667.2:g.157241685G>T	GRCh38
NC_000005.9:g.156668695G>T , CM000667.1:g.156668695G>T	GRCh37
NC_000005.8:g.156601273G>T	NCBI36
NG_016276.1:g.65789G>T , LRG_189:g.65789G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000696962.1:c.891G>T	ENSP00000513001.1:p.Glu297Asp
ENST00000422843.8:c.1025G>T MANE Select	ENSP00000398655.4:p.Arg342Met
ENST00000422843.7:c.1025G>T	ENSP00000398655.3:p.Arg342Met
ENST00000519402.5:n.2610G>T
ENST00000519749.1:n.95G>T
ENST00000520173.1:n.143G>T
NM_005546.3:c.1025G>T , LRG_189t1:c.1025G>T	NP_005537.3:p.Arg342Met
XM_017009443.1:c.650G>T	XP_016864932.1:p.Arg217Met
NM_005546.4:c.1025G>T MANE Select	NP_005537.3:p.Arg342Met