Canonical Allele Identifier: CA395992841

Gene: NUP93

Linked Data

• ClinVar Variation Id: 2022632
• ClinVar RCV Id: RCV002852631
• MyVariant Identifiers: chr16:g.56870519G>A (hg19) ; chr16:g.56836607G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.56836607G>A , CM000678.2:g.56836607G>A	GRCh38
NC_000016.9:g.56870519G>A , CM000678.1:g.56870519G>A	GRCh37
NC_000016.8:g.55428020G>A	NCBI36
NG_052904.1:g.111503G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000308159.10:c.1789G>A MANE Select	ENSP00000310668.5:p.Val597Ile
ENST00000308159.9:c.1789G>A	ENSP00000310668.5:p.Val597Ile
ENST00000542526.5:c.1420G>A	ENSP00000440235.1:p.Val474Ile
ENST00000564887.5:c.1420G>A	ENSP00000458039.1:p.Val474Ile
ENST00000569842.5:c.1789G>A	ENSP00000458101.1:p.Val597Ile
NM_001242795.1:c.1420G>A	NP_001229724.1:p.Val474Ile
NM_001242796.1:c.1420G>A	NP_001229725.1:p.Val474Ile
NM_014669.4:c.1789G>A	NP_055484.3:p.Val597Ile
XM_005256263.2:c.1789G>A	XP_005256320.1:p.Val597Ile
NM_001242796.2:c.1420G>A	NP_001229725.1:p.Val474Ile
XM_005256263.3:c.1789G>A	XP_005256320.1:p.Val597Ile
NM_014669.5:c.1789G>A MANE Select	NP_055484.3:p.Val597Ile
NM_001242795.2:c.1420G>A	NP_001229724.1:p.Val474Ile