Canonical Allele Identifier: CA10283240

Gene: NUP50

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.45176078T>C , CM000684.2:g.45176078T>C	GRCh38
NC_000022.10:g.45571959T>C , CM000684.1:g.45571959T>C	GRCh37
NC_000022.9:g.43950623T>C	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000347635.9:c.338T>C MANE Select	ENSP00000345895.3:p.Phe113Ser
ENST00000347635.8:c.338T>C	ENSP00000345895.3:p.Phe113Ser
ENST00000396096.6:c.254T>C	ENSP00000379403.2:p.Phe85Ser
ENST00000407019.6:c.254T>C	ENSP00000385555.2:p.Phe85Ser
ENST00000419387.5:c.*251-2160T>C	ENSP00000391987.1:n.*251-2160T>C
ENST00000422489.1:c.338T>C	ENSP00000416264.1:p.Phe113Ser
ENST00000430547.5:c.154-2160T>C	ENSP00000397960.1:n.154-2160T>C
ENST00000486184.1:n.626T>C
ENST00000491860.1:n.261T>C
ENST00000493456.5:n.125-4142T>C
NM_007172.3:c.338T>C	NP_009103.2:p.Phe113Ser
NM_153645.2:c.254T>C	NP_705931.1:p.Phe85Ser
XM_005261312.1:c.254T>C	XP_005261369.1:p.Phe85Ser
XM_005261313.2:c.254T>C	XP_005261370.1:p.Phe85Ser
XM_005261314.1:c.254T>C	XP_005261371.1:p.Phe85Ser
XM_006724103.1:c.338T>C	XP_006724166.1:p.Phe113Ser
XM_006724104.1:c.254T>C	XP_006724167.1:p.Phe85Ser
XM_011529833.1:c.338T>C	XP_011528135.1:p.Phe113Ser
XM_017028537.2:c.254T>C	XP_016884026.1:p.Phe85Ser
XM_017028538.2:c.-410-2160T>C	XP_016884027.1:n.-410-2160T>C
XM_024452146.1:c.338T>C	XP_024307914.1:p.Phe113Ser
NM_007172.4:c.338T>C MANE Select	NP_009103.2:p.Phe113Ser