Canonical Allele Identifier: CA395982509

Gene: NUP93

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.56821534G>C , CM000678.2:g.56821534G>C	GRCh38
NC_000016.9:g.56855446G>C , CM000678.1:g.56855446G>C	GRCh37
NC_000016.8:g.55412947G>C	NCBI36
NG_052904.1:g.96430G>C

Transcript Alleles

HGVS	Amino-acid Change
NM_014669.5:c.595G>C MANE Select	NP_055484.3:p.Gly199Arg
ENST00000308159.10:c.595G>C MANE Select	ENSP00000310668.5:p.Gly199Arg
NM_001242795.1:c.226G>C	NP_001229724.1:p.Gly76Arg
NM_001242795.2:c.226G>C	NP_001229724.1:p.Gly76Arg
NM_001242796.1:c.226G>C	NP_001229725.1:p.Gly76Arg
NM_001242796.2:c.226G>C	NP_001229725.1:p.Gly76Arg
NM_014669.4:c.595G>C	NP_055484.3:p.Gly199Arg
ENST00000308159.9:c.595G>C	ENSP00000310668.5:p.Gly199Arg
ENST00000542526.5:c.226G>C	ENSP00000440235.1:p.Gly76Arg
ENST00000563858.5:c.20-46G>C	ENSP00000455230.1:n.20-46G>C
ENST00000564887.5:c.226G>C	ENSP00000458039.1:p.Gly76Arg
ENST00000566727.5:n.555G>C
ENST00000567641.5:c.226G>C	ENSP00000455210.1:p.Gly76Arg
ENST00000569842.5:c.595G>C	ENSP00000458101.1:p.Gly199Arg
ENST00000569863.5:c.226G>C	ENSP00000454587.1:p.Gly76Arg
XM_005256263.2:c.595G>C	XP_005256320.1:p.Gly199Arg
XM_005256263.3:c.595G>C	XP_005256320.1:p.Gly199Arg