Canonical Allele Identifier: CA2676196847
Gene: ITK HGNC NCBI

Linked Data

gnomAD v4: 5-157241419-T-C
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.157241419T>C , CM000667.2:g.157241419T>C GRCh38
NC_000005.9:g.156668429T>C , CM000667.1:g.156668429T>C GRCh37
NC_000005.8:g.156601007T>C NCBI36
NG_016276.1:g.65523T>C , LRG_189:g.65523T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000696962.1:c.852-227T>C ENSP00000513001.1:n.852-227T>C
ENST00000422843.8:c.986-227T>C MANE Select ENSP00000398655.4:n.986-227T>C
ENST00000422843.7:c.986-227T>C ENSP00000398655.3:n.986-227T>C
ENST00000519402.5:n.2344T>C
ENST00000520173.1:n.104-227T>C
NM_005546.3:c.986-227T>C , LRG_189t1:c.986-227T>C NP_005537.3:n.986-227T>C
XM_017009443.1:c.611-227T>C XP_016864932.1:n.611-227T>C
NM_005546.4:c.986-227T>C MANE Select NP_005537.3:n.986-227T>C
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