Canonical Allele Identifier: CA508139339

Gene: FUZ

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.49812644C>T , CM000681.2:g.49812644C>T	GRCh38
NC_000019.9:g.50315901C>T , CM000681.1:g.50315901C>T	GRCh37
NC_000019.8:g.55007713C>T	NCBI36
NG_032843.1:g.5667G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000313777.9:c.204G>A MANE Select	ENSP00000313309.4:p.Thr68=
ENST00000313777.8:c.204G>A	ENSP00000313309.4:p.Thr68=
ENST00000377092.8:c.204G>A	ENSP00000366296.5:p.Thr68=
ENST00000525130.5:c.204G>A	ENSP00000433492.1:p.Thr68=
ENST00000525370.5:c.204G>A	ENSP00000431420.1:p.Thr68=
ENST00000525800.5:c.54G>A	ENSP00000471319.1:p.Thr18=
ENST00000526435.1:c.153G>A	ENSP00000470155.1:p.Thr51=
ENST00000526575.1:c.204G>A	ENSP00000433164.1:p.Thr68=
ENST00000527111.2:c.204G>A	ENSP00000469856.1:p.Thr68=
ENST00000527585.5:c.112-309G>A	ENSP00000470863.1:n.112-309G>A
ENST00000528043.5:c.54G>A	ENSP00000431388.1:p.Thr18=
ENST00000528094.5:c.204G>A	ENSP00000435177.1:p.Thr68=
ENST00000529302.1:c.-74G>A	ENSP00000471793.1:n.-74G>A
ENST00000531017.5:n.407G>A
ENST00000533418.5:c.54G>A	ENSP00000431731.1:p.Thr18=
ENST00000534008.5:n.339G>A
NM_001171937.1:c.204G>A	NP_001165408.1:p.Thr68=
NM_025129.4:c.204G>A	NP_079405.2:p.Thr68=
NR_033269.1:n.408G>A
XM_006723399.2:c.204G>A	XP_006723462.1:p.Thr68=
XM_011527339.1:c.204G>A	XP_011525641.1:p.Thr68=
XM_011527340.1:c.54G>A	XP_011525642.1:p.Thr18=
XM_011527341.1:c.54G>A	XP_011525643.1:p.Thr18=
XM_011527342.1:c.-136G>A	XP_011525644.1:n.-136G>A
XM_011527343.1:c.204G>A	XP_011525645.1:p.Thr68=
XM_011527344.1:c.204G>A	XP_011525646.1:p.Thr68=
XM_011527345.1:c.-74G>A	XP_011525647.1:n.-74G>A
XM_011527346.1:c.-67-309G>A	XP_011525648.1:n.-67-309G>A
XM_011527347.1:c.-74G>A	XP_011525649.1:n.-74G>A
XR_935862.1:n.386G>A
XR_935863.1:n.386G>A
NM_001352262.1:c.204G>A	NP_001339191.1:p.Thr68=
NM_001363663.1:c.54G>A	NP_001350592.1:p.Thr18=
XM_006723399.3:c.204G>A	XP_006723462.1:p.Thr68=
XM_011527341.2:c.54G>A	XP_011525643.1:p.Thr18=
XM_011527342.2:c.-136G>A	XP_011525644.1:n.-136G>A
XM_017027320.1:c.204G>A	XP_016882809.1:p.Thr68=
XM_017027321.1:c.-67-309G>A	XP_016882810.1:n.-67-309G>A
XM_017027322.2:c.54G>A	XP_016882811.1:p.Thr18=
XM_017027323.1:c.204G>A	XP_016882812.1:p.Thr68=
XM_024451729.1:c.-136G>A	XP_024307497.1:n.-136G>A
XM_024451730.1:c.-136G>A	XP_024307498.1:n.-136G>A
XR_001753764.1:n.386G>A
XR_001753765.1:n.386G>A
XR_002958363.1:n.386G>A
XR_002958364.1:n.386G>A
XR_002958365.1:n.386G>A
NM_001171937.2:c.204G>A	NP_001165408.1:p.Thr68=
NM_001352262.2:c.204G>A	NP_001339191.1:p.Thr68=
NM_025129.5:c.204G>A MANE Select	NP_079405.2:p.Thr68=
NR_033269.2:n.390G>A