Canonical Allele Identifier: CA8068429

Gene: NUP93

Linked Data

• dbSNP Id: rs749167844
• ExAC: 16:56867223 G / A
• gnomAD v2: 16-56867223-G-A
• gnomAD v3: 16-56833311-G-A
• gnomAD v4: 16-56833311-G-A
• MyVariant Identifiers: chr16:g.56867223G>A (hg19) ; chr16:g.56833311G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.56833311G>A , CM000678.2:g.56833311G>A	GRCh38
NC_000016.9:g.56867223G>A , CM000678.1:g.56867223G>A	GRCh37
NC_000016.8:g.55424724G>A	NCBI36
NG_052904.1:g.108207G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000308159.10:c.1442G>A MANE Select	ENSP00000310668.5:p.Arg481His
ENST00000308159.9:c.1442G>A	ENSP00000310668.5:p.Arg481His
ENST00000542526.5:c.1073G>A	ENSP00000440235.1:p.Arg358His
ENST00000563437.1:n.684G>A
ENST00000564887.5:c.1073G>A	ENSP00000458039.1:p.Arg358His
ENST00000569842.5:c.1442G>A	ENSP00000458101.1:p.Arg481His
NM_001242795.1:c.1073G>A	NP_001229724.1:p.Arg358His
NM_001242796.1:c.1073G>A	NP_001229725.1:p.Arg358His
NM_014669.4:c.1442G>A	NP_055484.3:p.Arg481His
XM_005256263.2:c.1442G>A	XP_005256320.1:p.Arg481His
NM_001242796.2:c.1073G>A	NP_001229725.1:p.Arg358His
XM_005256263.3:c.1442G>A	XP_005256320.1:p.Arg481His
NM_014669.5:c.1442G>A MANE Select	NP_055484.3:p.Arg481His
NM_001242795.2:c.1073G>A	NP_001229724.1:p.Arg358His