Canonical Allele Identifier: CA8068578

Gene: NUP93

Linked Data

• ClinVar Variation Id: 3031351
• ClinVar RCV Id: RCV003896951
• dbSNP Id: rs542472718
• ExAC: 16:56870634 A / C
• gnomAD v2: 16-56870634-A-C
• gnomAD v3: 16-56836722-A-C
• gnomAD v4: 16-56836722-A-C
• MyVariant Identifiers: chr16:g.56870634A>C (hg19) ; chr16:g.56836722A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.56836722A>C , CM000678.2:g.56836722A>C	GRCh38
NC_000016.9:g.56870634A>C , CM000678.1:g.56870634A>C	GRCh37
NC_000016.8:g.55428135A>C	NCBI36
NG_052904.1:g.111618A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000308159.10:c.1899+5A>C MANE Select	ENSP00000310668.5:n.1899+5A>C
ENST00000308159.9:c.1899+5A>C	ENSP00000310668.5:n.1899+5A>C
ENST00000542526.5:c.1530+5A>C	ENSP00000440235.1:n.1530+5A>C
ENST00000563405.1:c.93+5A>C	ENSP00000458078.1:n.93+5A>C
ENST00000564887.5:c.1530+5A>C	ENSP00000458039.1:n.1530+5A>C
ENST00000569842.5:c.1899+5A>C	ENSP00000458101.1:n.1899+5A>C
NM_001242795.1:c.1530+5A>C	NP_001229724.1:n.1530+5A>C
NM_001242796.1:c.1530+5A>C	NP_001229725.1:n.1530+5A>C
NM_014669.4:c.1899+5A>C	NP_055484.3:n.1899+5A>C
XM_005256263.2:c.1899+5A>C	XP_005256320.1:n.1899+5A>C
NM_001242796.2:c.1530+5A>C	NP_001229725.1:n.1530+5A>C
XM_005256263.3:c.1899+5A>C	XP_005256320.1:n.1899+5A>C
NM_014669.5:c.1899+5A>C MANE Select	NP_055484.3:n.1899+5A>C
NM_001242795.2:c.1530+5A>C	NP_001229724.1:n.1530+5A>C