Canonical Allele Identifier: CA395992827

Gene: NUP93

Linked Data

• gnomAD v4: 16-56836602-C-A
• MyVariant Identifiers: chr16:g.56870514C>A (hg19) ; chr16:g.56836602C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.56836602C>A , CM000678.2:g.56836602C>A	GRCh38
NC_000016.9:g.56870514C>A , CM000678.1:g.56870514C>A	GRCh37
NC_000016.8:g.55428015C>A	NCBI36
NG_052904.1:g.111498C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000308159.10:c.1784C>A MANE Select	ENSP00000310668.5:p.Pro595His
ENST00000308159.9:c.1784C>A	ENSP00000310668.5:p.Pro595His
ENST00000542526.5:c.1415C>A	ENSP00000440235.1:p.Pro472His
ENST00000564887.5:c.1415C>A	ENSP00000458039.1:p.Pro472His
ENST00000569842.5:c.1784C>A	ENSP00000458101.1:p.Pro595His
NM_001242795.1:c.1415C>A	NP_001229724.1:p.Pro472His
NM_001242796.1:c.1415C>A	NP_001229725.1:p.Pro472His
NM_014669.4:c.1784C>A	NP_055484.3:p.Pro595His
XM_005256263.2:c.1784C>A	XP_005256320.1:p.Pro595His
NM_001242796.2:c.1415C>A	NP_001229725.1:p.Pro472His
XM_005256263.3:c.1784C>A	XP_005256320.1:p.Pro595His
NM_014669.5:c.1784C>A MANE Select	NP_055484.3:p.Pro595His
NM_001242795.2:c.1415C>A	NP_001229724.1:p.Pro472His