Canonical Allele Identifier: CA395993216

Gene: NUP93

Linked Data

• MyVariant Identifiers: chr16:g.56870592T>G (hg19) ; chr16:g.56836680T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.56836680T>G , CM000678.2:g.56836680T>G	GRCh38
NC_000016.9:g.56870592T>G , CM000678.1:g.56870592T>G	GRCh37
NC_000016.8:g.55428093T>G	NCBI36
NG_052904.1:g.111576T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000308159.10:c.1862T>G MANE Select	ENSP00000310668.5:p.Leu621Arg
ENST00000308159.9:c.1862T>G	ENSP00000310668.5:p.Leu621Arg
ENST00000542526.5:c.1493T>G	ENSP00000440235.1:p.Leu498Arg
ENST00000563405.1:c.56T>G	ENSP00000458078.1:p.Leu19Arg
ENST00000564887.5:c.1493T>G	ENSP00000458039.1:p.Leu498Arg
ENST00000569842.5:c.1862T>G	ENSP00000458101.1:p.Leu621Arg
NM_001242795.1:c.1493T>G	NP_001229724.1:p.Leu498Arg
NM_001242796.1:c.1493T>G	NP_001229725.1:p.Leu498Arg
NM_014669.4:c.1862T>G	NP_055484.3:p.Leu621Arg
XM_005256263.2:c.1862T>G	XP_005256320.1:p.Leu621Arg
NM_001242796.2:c.1493T>G	NP_001229725.1:p.Leu498Arg
XM_005256263.3:c.1862T>G	XP_005256320.1:p.Leu621Arg
NM_014669.5:c.1862T>G MANE Select	NP_055484.3:p.Leu621Arg
NM_001242795.2:c.1493T>G	NP_001229724.1:p.Leu498Arg