Canonical Allele Identifier: CA3442949
Gene: IK HGNC NCBI

Linked Data

dbSNP Id: rs34282994
ExAC: 5:140038340 A / G
gnomAD v2: 5-140038340-A-G
gnomAD v3: 5-140658755-A-G
gnomAD v4: 5-140658755-A-G
MyVariant Identifiers: chr5:g.140038340A>G (hg19) chr5:g.140658755A>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.140658755A>G , CM000667.2:g.140658755A>G GRCh38
NC_000005.9:g.140038340A>G , CM000667.1:g.140038340A>G GRCh37
NC_000005.8:g.140018524A>G NCBI36

Transcript Alleles

HGVS Amino-acid change
ENST00000417647.7:c.929A>G MANE Select ENSP00000396301.2:p.Lys310Arg
ENST00000417647.6:c.929A>G ENSP00000396301.2:p.Lys310Arg
ENST00000610522.4:c.-17A>G ENSP00000481369.1:n.-17A>G
ENST00000620556.4:c.*205A>G ENSP00000480993.1:n.*205A>G
NM_006083.3:c.929A>G NP_006074.2:p.Lys310Arg
XR_002956156.1:n.1020A>G
NM_006083.4:c.929A>G MANE Select NP_006074.2:p.Lys310Arg
Search 100 bp 5'
Search 100 bp 3'