Canonical Allele Identifier: CA2224331585
Community Standard Title: NM_014669.5(NUP93):c.1162C= (p.Arg388=)
Gene: NUP93 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.56831918C= , CM000678.2:g.56831918C= GRCh38
NC_000016.9:g.56865830C= , CM000678.1:g.56865830C= GRCh37
NC_000016.8:g.55423331C= NCBI36
NG_052904.1:g.106814C=

Transcript Alleles

HGVS Amino-acid Change
NM_014669.5:c.1162C= MANE Select NP_055484.3:p.Arg388=
ENST00000308159.10:c.1162C= MANE Select ENSP00000310668.5:p.Arg388=
NM_001242795.1:c.793C= NP_001229724.1:p.Arg265=
NM_001242795.2:c.793C= NP_001229724.1:p.Arg265=
NM_001242796.1:c.793C= NP_001229725.1:p.Arg265=
NM_001242796.2:c.793C= NP_001229725.1:p.Arg265=
NM_014669.4:c.1162C= NP_055484.3:p.Arg388=
ENST00000308159.9:c.1162C= ENSP00000310668.5:p.Arg388=
ENST00000542526.5:c.793C= ENSP00000440235.1:p.Arg265=
ENST00000563437.1:n.404C=
ENST00000563858.5:c.541C= ENSP00000455230.1:p.Arg181=
ENST00000564887.5:c.793C= ENSP00000458039.1:p.Arg265=
ENST00000569842.5:c.1162C= ENSP00000458101.1:p.Arg388=
XM_005256263.2:c.1162C= XP_005256320.1:p.Arg388=
XM_005256263.3:c.1162C= XP_005256320.1:p.Arg388=