Canonical Allele Identifier: CA395992830

Gene: NUP93

Linked Data

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

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000308159.10:c.1784C>T MANE Select	ENSP00000310668.5:p.Pro595Leu
ENST00000308159.9:c.1784C>T	ENSP00000310668.5:p.Pro595Leu
ENST00000542526.5:c.1415C>T	ENSP00000440235.1:p.Pro472Leu
ENST00000564887.5:c.1415C>T	ENSP00000458039.1:p.Pro472Leu
ENST00000569842.5:c.1784C>T	ENSP00000458101.1:p.Pro595Leu
NM_001242795.1:c.1415C>T	NP_001229724.1:p.Pro472Leu
NM_001242796.1:c.1415C>T	NP_001229725.1:p.Pro472Leu
NM_014669.4:c.1784C>T	NP_055484.3:p.Pro595Leu
XM_005256263.2:c.1784C>T	XP_005256320.1:p.Pro595Leu
NM_001242796.2:c.1415C>T	NP_001229725.1:p.Pro472Leu
XM_005256263.3:c.1784C>T	XP_005256320.1:p.Pro595Leu
NM_014669.5:c.1784C>T MANE Select	NP_055484.3:p.Pro595Leu
NM_001242795.2:c.1415C>T	NP_001229724.1:p.Pro472Leu