Canonical Allele Identifier: CA15678946
Community Standard Title: NM_016320.5(NUP98):c.3513-235A>G
Gene: NUP98 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.3701074T>C , CM000673.2:g.3701074T>C GRCh38
NC_000011.9:g.3722304T>C , CM000673.1:g.3722304T>C GRCh37
NC_000011.8:g.3678880T>C NCBI36

Transcript Alleles

HGVS Amino-acid Change
NM_016320.5:c.3513-235A>G MANE Select NP_057404.2:n.3513-235A>G
ENST00000324932.12:c.3513-235A>G MANE Select ENSP00000316032.7:n.3513-235A>G
NM_001365125.1:c.3606-235A>G NP_001352054.1:n.3606-235A>G
NM_001365125.2:c.3606-235A>G NP_001352054.1:n.3606-235A>G
NM_001365126.1:c.3564-235A>G NP_001352055.1:n.3564-235A>G
NM_001365126.2:c.3564-235A>G NP_001352055.1:n.3564-235A>G
NM_001365127.1:c.3489-235A>G NP_001352056.1:n.3489-235A>G
NM_001365127.2:c.3489-235A>G NP_001352056.1:n.3489-235A>G
NM_001365128.1:c.3462-235A>G NP_001352057.1:n.3462-235A>G
NM_001365128.2:c.3462-235A>G NP_001352057.1:n.3462-235A>G
NM_001365129.1:c.3372-235A>G NP_001352058.1:n.3372-235A>G
NM_001365129.2:c.3372-235A>G NP_001352058.1:n.3372-235A>G
NM_016320.4:c.3513-235A>G NP_057404.2:n.3513-235A>G
NM_139132.3:c.3513-235A>G NP_624358.2:n.3513-235A>G
NM_139132.4:c.3513-235A>G NP_624358.2:n.3513-235A>G
NR_157589.1:n.3696-235A>G
NR_157589.2:n.3696-235A>G
NR_157590.1:n.3695+1389A>G
NR_157590.2:n.3695+1389A>G
NR_157591.1:n.3739-235A>G
ENST00000324932.11:c.3513-235A>G ENSP00000316032.7:n.3513-235A>G
ENST00000355260.7:c.3513-235A>G ENSP00000347404.3:n.3513-235A>G
ENST00000355260.8:c.3513-235A>G ENSP00000347404.3:n.3513-235A>G
ENST00000359171.8:c.3564-235A>G ENSP00000352091.5:n.3564-235A>G
ENST00000429801.5:c.370-235A>G
ENST00000483285.2:n.3703-235A>G
ENST00000527104.6:c.3489-235A>G ENSP00000436226.2:n.3489-235A>G
ENST00000529063.1:c.189+1389A>G
ENST00000529063.2:c.3512+1389A>G ENSP00000433226.2:n.3512+1389A>G
ENST00000529379.2:c.3372-235A>G ENSP00000432142.2:n.3372-235A>G
ENST00000650171.1:c.3513-235A>G ENSP00000497709.1:n.3513-235A>G
ENST00000700595.1:c.1299-235A>G ENSP00000515086.1:n.1299-235A>G
ENST00000700596.1:n.2548-235A>G
ENST00000700597.1:c.3486-235A>G ENSP00000515087.1:n.3486-235A>G
ENST00000700598.1:c.3462-235A>G ENSP00000515088.1:n.3462-235A>G
ENST00000700601.1:c.3513-235A>G ENSP00000515090.1:n.3513-235A>G
ENST00000700602.1:c.3564-235A>G ENSP00000515091.1:n.3564-235A>G
ENST00000700603.1:c.3372-235A>G ENSP00000515092.1:n.3372-235A>G
XM_005252950.1:c.3564-235A>G XP_005253007.1:n.3564-235A>G
XM_006718240.1:c.3489-235A>G XP_006718303.1:n.3489-235A>G
XM_006718241.1:c.3372-235A>G XP_006718304.1:n.3372-235A>G
XM_006718242.1:c.3564-235A>G XP_006718305.1:n.3564-235A>G
XM_011520134.1:c.3564-235A>G XP_011518436.1:n.3564-235A>G
XM_011520135.1:c.3564-235A>G XP_011518437.1:n.3564-235A>G
XM_011520136.1:c.3537-235A>G XP_011518438.1:n.3537-235A>G
XM_011520137.1:c.3423-235A>G XP_011518439.1:n.3423-235A>G
XR_930872.1:n.3947-235A>G
XR_930873.1:n.3946+1389A>G