Canonical Allele Identifier: CA1594081763
Gene: ITK HGNC NCBI

Linked Data

dbSNP Id: rs991355597
gnomAD v4: 5-157241575-T-C
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.157241575T>C , CM000667.2:g.157241575T>C GRCh38
NC_000005.9:g.156668585T>C , CM000667.1:g.156668585T>C GRCh37
NC_000005.8:g.156601163T>C NCBI36
NG_016276.1:g.65679T>C , LRG_189:g.65679T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000696962.1:c.852-71T>C ENSP00000513001.1:n.852-71T>C
ENST00000422843.8:c.986-71T>C MANE Select ENSP00000398655.4:n.986-71T>C
ENST00000422843.7:c.986-71T>C ENSP00000398655.3:n.986-71T>C
ENST00000519402.5:n.2500T>C
ENST00000520173.1:n.104-71T>C
NM_005546.3:c.986-71T>C , LRG_189t1:c.986-71T>C NP_005537.3:n.986-71T>C
XM_017009443.1:c.611-71T>C XP_016864932.1:n.611-71T>C
NM_005546.4:c.986-71T>C MANE Select NP_005537.3:n.986-71T>C
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