Canonical Allele Identifier: CA447431242
Gene: ITK HGNC NCBI

Linked Data

MyVariant Identifiers: chr5:g.156668666T>C (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.157241656T>C , CM000667.2:g.157241656T>C GRCh38
NC_000005.9:g.156668666T>C , CM000667.1:g.156668666T>C GRCh37
NC_000005.8:g.156601244T>C NCBI36
NG_016276.1:g.65760T>C , LRG_189:g.65760T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000696962.1:c.862T>C ENSP00000513001.1:p.Ser288Pro
ENST00000422843.8:c.996T>C MANE Select ENSP00000398655.4:p.Thr332=
ENST00000422843.7:c.996T>C ENSP00000398655.3:p.Thr332=
ENST00000519402.5:n.2581T>C
ENST00000519749.1:n.66T>C
ENST00000520173.1:n.114T>C
NM_005546.3:c.996T>C , LRG_189t1:c.996T>C NP_005537.3:p.Thr332=
XM_017009443.1:c.621T>C XP_016864932.1:p.Thr207=
NM_005546.4:c.996T>C MANE Select NP_005537.3:p.Thr332=