Canonical Allele Identifier: CA563672846
Gene: ITK HGNC NCBI

Linked Data

dbSNP Id: rs1247384765
gnomAD v2: 5-156668342-G-A
gnomAD v3: 5-157241332-G-A
gnomAD v4: 5-157241332-G-A
MyVariant Identifiers: chr5:g.156668342G>A (hg19) chr5:g.157241332G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.157241332G>A , CM000667.2:g.157241332G>A GRCh38
NC_000005.9:g.156668342G>A , CM000667.1:g.156668342G>A GRCh37
NC_000005.8:g.156600920G>A NCBI36
NG_016276.1:g.65436G>A , LRG_189:g.65436G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000696962.1:c.852-314G>A ENSP00000513001.1:n.852-314G>A
ENST00000422843.8:c.986-314G>A MANE Select ENSP00000398655.4:n.986-314G>A
ENST00000422843.7:c.986-314G>A ENSP00000398655.3:n.986-314G>A
ENST00000519402.5:n.2257G>A
ENST00000520173.1:n.104-314G>A
NM_005546.3:c.986-314G>A , LRG_189t1:c.986-314G>A NP_005537.3:n.986-314G>A
XM_017009443.1:c.611-314G>A XP_016864932.1:n.611-314G>A
NM_005546.4:c.986-314G>A MANE Select NP_005537.3:n.986-314G>A
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