Canonical Allele Identifier: CA3532532
ClinVar RCV:
ClinVar Variation:
gnomAD v4:
MyVariant.info:
Revel Score:

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