Canonical Allele Identifier: CA3532532
Gene: GARIN3 HGNC NCBI
ITK HGNC NCBI
ClinVar RCV:
RCV004392781
ClinVar Variation:
3098396
dbSNP:
747876535
gnomAD v2:
5:156592978 G / C
gnomAD v4:
chr5-157165967-G-C
Joint Max Group AF 0.00000739 (EAS)
Exomes Max Group AF 0.00000835 (EAS)
MyVariant.info:
GRCh38 chr5:g.157165967G>C
GRCh37 chr5:g.156592978G>C
Revel Score:
ENST00000302938 (MANE Select) 0.215
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.157165967G>C , CM000667.2:g.157165967G>C GRCh38
NC_000005.9:g.156592978G>C , CM000667.1:g.156592978G>C GRCh37
NC_000005.8:g.156525556G>C NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000302938.4:c.202C>G (GARIN3) MANE Select ENSP00000305596.4:p.Arg68Gly
ENST00000521769.5:c.-296-121G>C (ITK) ENSP00000430327.1:n.-296-121G>C
NM_130899.2:c.202C>G (GARIN3) NP_570969.2:p.Arg68Gly
NM_130899.3:c.202C>G (GARIN3) MANE Select NP_570969.2:p.Arg68Gly
Search 100 bp 5'
Search 100 bp 3'