Canonical Allele Identifier: CA1338005975
Gene: ILKAP HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.238186781G>C , CM000664.2:g.238186781G>C GRCh38
NC_000002.11:g.239095422G>C , CM000664.1:g.239095422G>C GRCh37
NC_000002.10:g.238760161G>C NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000254654.8:c.425+1350C>G MANE Select ENSP00000254654.3:n.425+1350C>G
ENST00000254654.7:c.425+1350C>G ENSP00000254654.3:n.425+1350C>G
ENST00000457149.1:c.419+1350C>G ENSP00000395301.1:n.419+1350C>G
ENST00000463129.5:n.973+1350C>G
ENST00000466468.5:n.277C>G
ENST00000479400.1:n.464+1350C>G
ENST00000612675.4:c.425+1350C>G ENSP00000477533.1:n.425+1350C>G
ENST00000622223.4:c.179-2668C>G ENSP00000477542.1:n.179-2668C>G
NM_030768.2:c.425+1350C>G NP_110395.1:n.425+1350C>G
XM_005246106.1:c.65+1350C>G XP_005246163.1:n.65+1350C>G
XM_006712784.1:c.221+1350C>G XP_006712847.1:n.221+1350C>G
XM_011511946.1:c.30-1494C>G XP_011510248.1:n.30-1494C>G
XR_923033.1:n.574+1350C>G
XM_011511946.2:c.30-1494C>G XP_011510248.1:n.30-1494C>G
XM_017005056.2:c.65+1350C>G XP_016860545.1:n.65+1350C>G
XM_017005057.1:c.65+1350C>G XP_016860546.1:n.65+1350C>G
XM_017005058.1:c.30-1494C>G XP_016860547.1:n.30-1494C>G
XM_024453162.1:c.65+1350C>G XP_024308930.1:n.65+1350C>G
NM_030768.3:c.425+1350C>G MANE Select NP_110395.1:n.425+1350C>G