Canonical Allele Identifier: CA9584617
Gene: FUZ HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.49813007C>A , CM000681.2:g.49813007C>A GRCh38
NC_000019.9:g.50316264C>A , CM000681.1:g.50316264C>A GRCh37
NC_000019.8:g.55008076C>A NCBI36
NG_032843.1:g.5304G>T

Transcript Alleles

HGVS Amino-acid Change
NM_025129.5:c.100G>T MANE Select NP_079405.2:p.Ala34Ser
ENST00000313777.9:c.100G>T MANE Select ENSP00000313309.4:p.Ala34Ser
NM_001171937.1:c.100G>T NP_001165408.1:p.Ala34Ser
NM_001171937.2:c.100G>T NP_001165408.1:p.Ala34Ser
NM_001352262.1:c.100G>T NP_001339191.1:p.Ala34Ser
NM_001352262.2:c.100G>T NP_001339191.1:p.Ala34Ser
NM_001363663.1:c.-40+126G>T NP_001350592.1:n.-40+126G>T
NM_025129.4:c.100G>T NP_079405.2:p.Ala34Ser
NR_033269.1:n.304G>T
NR_033269.2:n.286G>T
ENST00000313777.8:c.100G>T ENSP00000313309.4:p.Ala34Ser
ENST00000377092.8:c.100G>T ENSP00000366296.5:p.Ala34Ser
ENST00000525130.5:c.100G>T ENSP00000433492.1:p.Ala34Ser
ENST00000525370.5:c.100G>T ENSP00000431420.1:p.Ala34Ser
ENST00000525800.5:c.-40+126G>T ENSP00000471319.1:n.-40+126G>T
ENST00000526435.1:c.100G>T ENSP00000470155.1:p.Ala34Ser
ENST00000526575.1:c.100G>T ENSP00000433164.1:p.Ala34Ser
ENST00000527111.2:c.100G>T ENSP00000469856.1:p.Ala34Ser
ENST00000527585.5:c.100G>T ENSP00000470863.1:p.Ala34Ser
ENST00000528043.5:c.-40+126G>T ENSP00000431388.1:n.-40+126G>T
ENST00000528094.5:c.100G>T ENSP00000435177.1:p.Ala34Ser
ENST00000529302.1:c.-166-271G>T ENSP00000471793.1:n.-166-271G>T
ENST00000531017.5:n.303G>T
ENST00000533418.5:c.-40+126G>T ENSP00000431731.1:n.-40+126G>T
ENST00000534008.5:n.235G>T
XM_006723399.2:c.100G>T XP_006723462.1:p.Ala34Ser
XM_006723399.3:c.100G>T XP_006723462.1:p.Ala34Ser
XM_011527339.1:c.100G>T XP_011525641.1:p.Ala34Ser
XM_011527340.1:c.-40+126G>T XP_011525642.1:n.-40+126G>T
XM_011527341.1:c.-39-271G>T XP_011525643.1:n.-39-271G>T
XM_011527341.2:c.-39-271G>T XP_011525643.1:n.-39-271G>T
XM_011527342.1:c.-240G>T XP_011525644.1:n.-240G>T
XM_011527342.2:c.-240G>T XP_011525644.1:n.-240G>T
XM_011527343.1:c.100G>T XP_011525645.1:p.Ala34Ser
XM_011527344.1:c.100G>T XP_011525646.1:p.Ala34Ser
XM_011527345.1:c.-178G>T XP_011525647.1:n.-178G>T
XM_011527346.1:c.-79G>T XP_011525648.1:n.-79G>T
XM_011527347.1:c.-166-271G>T XP_011525649.1:n.-166-271G>T
XM_017027320.1:c.100G>T XP_016882809.1:p.Ala34Ser
XM_017027321.1:c.-79G>T XP_016882810.1:n.-79G>T
XM_017027322.2:c.-40+126G>T XP_016882811.1:n.-40+126G>T
XM_017027323.1:c.100G>T XP_016882812.1:p.Ala34Ser
XM_024451729.1:c.-229+126G>T XP_024307497.1:n.-229+126G>T
XM_024451730.1:c.-240G>T XP_024307498.1:n.-240G>T
XR_001753764.1:n.282G>T
XR_001753765.1:n.282G>T
XR_002958363.1:n.282G>T
XR_002958364.1:n.282G>T
XR_002958365.1:n.282G>T
XR_935862.1:n.282G>T
XR_935863.1:n.282G>T