Canonical Allele Identifier: CA9589167

Gene: NUP62 IL4I1

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.49909531C>T , CM000681.2:g.49909531C>T	GRCh38
NC_000019.9:g.50412788C>T , CM000681.1:g.50412788C>T	GRCh37
NC_000019.8:g.55104600C>T	NCBI36
NG_021170.1:g.24975G>A
NG_023448.1:g.25201G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_016553.5:c.277G>A (NUP62) MANE Select	NP_057637.2:p.Gly93Ser
ENST00000352066.8:c.277G>A (NUP62) MANE Select	ENSP00000305503.3:p.Gly93Ser
NM_001193357.1:c.277G>A (NUP62)	NP_001180286.1:p.Gly93Ser
NM_001193357.2:c.277G>A (NUP62)	NP_001180286.1:p.Gly93Ser
NM_001258017.1:c.-227-5210G>A (IL4I1)	NP_001244946.1:n.-227-5210G>A
NM_001258017.2:c.-227-5210G>A (IL4I1)	NP_001244946.1:n.-227-5210G>A
NM_001258018.1:c.-285-5210G>A (IL4I1)	NP_001244947.1:n.-285-5210G>A
NM_001258018.2:c.-285-5210G>A (IL4I1)	NP_001244947.1:n.-285-5210G>A
NM_012346.4:c.277G>A (NUP62)	NP_036478.2:p.Gly93Ser
NM_012346.5:c.277G>A (NUP62)	NP_036478.2:p.Gly93Ser
NM_016553.4:c.277G>A (NUP62)	NP_057637.2:p.Gly93Ser
NM_153718.3:c.277G>A (NUP62)	NP_714940.1:p.Gly93Ser
NM_153718.4:c.277G>A (NUP62)	NP_714940.1:p.Gly93Ser
NM_153719.3:c.277G>A (NUP62)	NP_714941.1:p.Gly93Ser
NM_153719.4:c.277G>A (NUP62)	NP_714941.1:p.Gly93Ser
NM_172374.2:c.-227-5210G>A (IL4I1)	NP_758962.1:n.-227-5210G>A
NM_172374.3:c.-227-5210G>A (IL4I1)	NP_758962.1:n.-227-5210G>A
NR_047577.1:n.337-5210G>A (IL4I1)
NR_047577.2:n.302-5210G>A (IL4I1)
ENST00000341114.7:c.-227-5210G>A (IL4I1)	ENSP00000342557.2:n.-227-5210G>A
ENST00000352066.7:c.277G>A (NUP62)	ENSP00000305503.2:p.Gly93Ser
ENST00000422090.2:c.277G>A (NUP62)	ENSP00000407331.1:p.Gly93Ser
ENST00000451973.1:c.545G>A	ENSP00000391489.1:n.545G>A
ENST00000593652.5:c.277G>A (NUP62)	ENSP00000472918.1:p.Gly93Ser
ENST00000595463.5:n.462-253G>A (NUP62)
ENST00000595761.1:c.277G>A (NUP62)	ENSP00000468930.1:p.Gly93Ser
ENST00000595948.5:c.-285-5210G>A (IL4I1)	ENSP00000472474.1:n.-285-5210G>A
ENST00000596011.1:c.-328-5210G>A (IL4I1)	ENSP00000472786.1:n.-328-5210G>A
ENST00000596022.5:c.-227-5210G>A (IL4I1)	ENSP00000471950.1:n.-227-5210G>A
ENST00000596217.1:c.277G>A (NUP62)	ENSP00000471191.1:p.Gly93Ser
ENST00000596437.6:c.277G>A (NUP62)	ENSP00000468842.2:p.Gly93Ser
ENST00000597029.5:c.277G>A (NUP62)	ENSP00000473192.1:p.Gly93Ser
ENST00000597029.6:c.277G>A (NUP62)	ENSP00000473192.1:p.Gly93Ser
ENST00000597295.5:c.-145-5210G>A (IL4I1)	ENSP00000469841.1:n.-145-5210G>A
ENST00000597723.5:c.277G>A (NUP62)	ENSP00000469283.1:p.Gly93Ser
ENST00000598301.2:c.277G>A (NUP62)	ENSP00000515009.1:p.Gly93Ser
ENST00000599560.6:c.277G>A (NUP62)	ENSP00000515013.1:p.Gly93Ser
ENST00000599567.5:c.277G>A (NUP62)	ENSP00000472081.1:p.Gly93Ser
ENST00000599788.2:c.277G>A (NUP62)	ENSP00000468884.2:p.Gly93Ser
ENST00000600583.6:c.277G>A (NUP62)	ENSP00000515011.1:p.Gly93Ser
ENST00000600645.1:c.277G>A (NUP62)	ENSP00000470624.1:p.Gly93Ser
ENST00000600935.2:c.277G>A (NUP62)	ENSP00000468839.2:p.Gly93Ser
ENST00000601717.5:c.-227-5210G>A (IL4I1)	ENSP00000469467.1:n.-227-5210G>A
ENST00000700473.1:c.277G>A (NUP62)	ENSP00000515006.1:p.Gly93Ser
ENST00000700474.1:c.277G>A (NUP62)	ENSP00000515007.1:p.Gly93Ser
ENST00000700475.1:c.277G>A (NUP62)	ENSP00000515008.1:p.Gly93Ser
ENST00000700476.1:c.277G>A (NUP62)	ENSP00000515010.1:p.Gly93Ser
ENST00000700477.1:c.277G>A (NUP62)	ENSP00000515012.1:p.Gly93Ser
ENST00000700478.1:c.277G>A (NUP62)	ENSP00000515014.1:p.Gly93Ser