Canonical Allele Identifier: CA447431257
Gene: ITK HGNC NCBI

Linked Data

MyVariant Identifiers: chr5:g.156668672C>A (hg19)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.157241662C>A , CM000667.2:g.157241662C>A GRCh38
NC_000005.9:g.156668672C>A , CM000667.1:g.156668672C>A GRCh37
NC_000005.8:g.156601250C>A NCBI36
NG_016276.1:g.65766C>A , LRG_189:g.65766C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000696962.1:c.868C>A ENSP00000513001.1:p.Pro290Thr
ENST00000422843.8:c.1002C>A MANE Select ENSP00000398655.4:p.Leu334=
ENST00000422843.7:c.1002C>A ENSP00000398655.3:p.Leu334=
ENST00000519402.5:n.2587C>A
ENST00000519749.1:n.72C>A
ENST00000520173.1:n.120C>A
NM_005546.3:c.1002C>A , LRG_189t1:c.1002C>A NP_005537.3:p.Leu334=
XM_017009443.1:c.627C>A XP_016864932.1:p.Leu209=
NM_005546.4:c.1002C>A MANE Select NP_005537.3:p.Leu334=
Search 100 bp 5'
Search 100 bp 3'