Canonical Allele Identifier: CA10283351

Gene: NUP50

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.45178669A>G , CM000684.2:g.45178669A>G	GRCh38
NC_000022.10:g.45574550A>G , CM000684.1:g.45574550A>G	GRCh37
NC_000022.9:g.43953214A>G	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000347635.9:c.772A>G MANE Select	ENSP00000345895.3:p.Lys258Glu
ENST00000347635.8:c.772A>G	ENSP00000345895.3:p.Lys258Glu
ENST00000396096.6:c.688A>G	ENSP00000379403.2:p.Lys230Glu
ENST00000407019.6:c.688A>G	ENSP00000385555.2:p.Lys230Glu
ENST00000419387.5:c.*682A>G	ENSP00000391987.1:n.*682A>G
ENST00000422489.1:c.340+2589A>G	ENSP00000416264.1:n.340+2589A>G
ENST00000469163.1:n.971A>G
ENST00000493456.5:n.125-1551A>G
NM_007172.3:c.772A>G	NP_009103.2:p.Lys258Glu
NM_153645.2:c.688A>G	NP_705931.1:p.Lys230Glu
XM_005261312.1:c.688A>G	XP_005261369.1:p.Lys230Glu
XM_005261313.2:c.688A>G	XP_005261370.1:p.Lys230Glu
XM_005261314.1:c.688A>G	XP_005261371.1:p.Lys230Glu
XM_006724103.1:c.772A>G	XP_006724166.1:p.Lys258Glu
XM_006724104.1:c.688A>G	XP_006724167.1:p.Lys230Glu
XM_011529833.1:c.772A>G	XP_011528135.1:p.Lys258Glu
NR_146602.1:n.918-2287T>C
XM_017028537.2:c.688A>G	XP_016884026.1:p.Lys230Glu
XM_017028538.2:c.22A>G	XP_016884027.1:p.Lys8Glu
XM_024452146.1:c.772A>G	XP_024307914.1:p.Lys258Glu
NM_007172.4:c.772A>G MANE Select	NP_009103.2:p.Lys258Glu