Canonical Allele Identifier: CA3442704
Gene: IK HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.140648481C>T , CM000667.2:g.140648481C>T GRCh38
NC_000005.9:g.140028066C>T , CM000667.1:g.140028066C>T GRCh37
NC_000005.8:g.140008250C>T NCBI36
NG_021417.1:g.4305G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000417647.7:c.27C>T MANE Select ENSP00000396301.2:p.Phe9=
ENST00000417647.6:c.27C>T ENSP00000396301.2:p.Phe9=
ENST00000502899.2:c.27C>T ENSP00000426764.2:p.Phe9=
ENST00000503332.5:c.27C>T ENSP00000421930.1:p.Phe9=
ENST00000507593.5:c.27C>T ENSP00000424622.1:p.Phe9=
ENST00000508301.5:c.27C>T ENSP00000422641.1:p.Phe9=
ENST00000512827.1:n.168C>T
ENST00000513256.5:c.15C>T ENSP00000425564.1:p.Phe5=
ENST00000523672.1:n.91C>T
ENST00000620556.4:c.27C>T ENSP00000480993.1:p.Phe9=
NM_006083.3:c.27C>T NP_006074.2:p.Phe9=
XR_002956156.1:n.118C>T
NM_006083.4:c.27C>T MANE Select NP_006074.2:p.Phe9=