Canonical Allele Identifier: CA3527707

Gene: FAXDC2

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.154823415C>T , CM000667.2:g.154823415C>T	GRCh38
NC_000005.9:g.154202975C>T , CM000667.1:g.154202975C>T	GRCh37
NC_000005.8:g.154183168C>T	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
NM_032385.5:c.544G>A MANE Select	NP_115761.2:p.Glu182Lys
ENST00000326080.10:c.544G>A MANE Select	ENSP00000320604.5:p.Glu182Lys
NM_032385.3:c.544G>A	NP_115761.2:p.Glu182Lys
NM_032385.4:c.544G>A	NP_115761.2:p.Glu182Lys
ENST00000326080.9:c.544G>A	ENSP00000320604.5:p.Glu182Lys
ENST00000423554.5:n.671G>A
ENST00000517938.5:c.475G>A	ENSP00000430286.1:p.Glu159Lys
ENST00000520581.5:c.*165G>A	ENSP00000431084.1:n.*165G>A
ENST00000521518.5:c.*165G>A	ENSP00000428992.1:n.*165G>A
ENST00000522825.1:c.*239G>A	ENSP00000429004.1:n.*239G>A
ENST00000524250.5:n.1294G>A
ENST00000524363.5:c.*53G>A	ENSP00000428834.1:n.*53G>A
XM_005268358.1:c.124G>A	XP_005268415.1:p.Glu42Lys
XM_006714753.1:c.544G>A	XP_006714816.1:p.Glu182Lys
XM_006714753.2:c.544G>A	XP_006714816.1:p.Glu182Lys
XM_017008965.1:c.544G>A	XP_016864454.1:p.Glu182Lys
XR_944305.1:n.671G>A