Canonical Allele Identifier: CA406900386

Gene: FUZ

Linked Data

• MyVariant Identifiers: chr19:g.50310589G>T (hg19) ; chr19:g.49807332G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.49807332G>T , CM000681.2:g.49807332G>T	GRCh38
NC_000019.9:g.50310589G>T , CM000681.1:g.50310589G>T	GRCh37
NC_000019.8:g.55002401G>T	NCBI36
NG_032843.1:g.10979C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000313777.9:c.1076C>A MANE Select	ENSP00000313309.4:p.Ala359Asp
ENST00000313777.8:c.1076C>A	ENSP00000313309.4:p.Ala359Asp
ENST00000377092.8:c.*816C>A	ENSP00000366296.5:n.*816C>A
ENST00000525130.5:c.*730C>A	ENSP00000433492.1:n.*730C>A
ENST00000525370.5:c.*733C>A	ENSP00000431420.1:n.*733C>A
ENST00000528094.5:c.968C>A	ENSP00000435177.1:p.Ala323Asp
ENST00000529634.2:c.232C>A
ENST00000533418.5:c.926C>A	ENSP00000431731.1:p.Ala309Asp
NM_001171937.1:c.968C>A	NP_001165408.1:p.Ala323Asp
NM_025129.4:c.1076C>A	NP_079405.2:p.Ala359Asp
NR_033269.1:n.1195C>A
XM_006723399.2:c.*62C>A	XP_006723462.1:n.*62C>A
XM_011527339.1:c.1079C>A	XP_011525641.1:p.Ala360Asp
XM_011527340.1:c.929C>A	XP_011525642.1:p.Ala310Asp
XM_011527341.1:c.929C>A	XP_011525643.1:p.Ala310Asp
XM_011527342.1:c.908C>A	XP_011525644.1:p.Ala303Asp
XM_011527343.1:c.*62C>A	XP_011525645.1:n.*62C>A
XM_011527344.1:c.881C>A	XP_011525646.1:p.Ala294Asp
XM_011527345.1:c.779C>A	XP_011525647.1:p.Ala260Asp
XM_011527346.1:c.779C>A	XP_011525648.1:p.Ala260Asp
XM_011527347.1:c.779C>A	XP_011525649.1:p.Ala260Asp
XR_935862.1:n.1444C>A
NM_001352262.1:c.1079C>A	NP_001339191.1:p.Ala360Asp
NM_001363663.1:c.926C>A	NP_001350592.1:p.Ala309Asp
XM_006723399.3:c.*62C>A	XP_006723462.1:n.*62C>A
XM_011527341.2:c.929C>A	XP_011525643.1:p.Ala310Asp
XM_011527342.2:c.908C>A	XP_011525644.1:p.Ala303Asp
XM_017027321.1:c.776C>A	XP_016882810.1:p.Ala259Asp
XM_017027322.2:c.*62C>A	XP_016882811.1:n.*62C>A
XM_024451729.1:c.908C>A	XP_024307497.1:p.Ala303Asp
XM_024451730.1:c.905C>A	XP_024307498.1:p.Ala302Asp
XR_001753764.1:n.1851C>A
XR_001753765.1:n.1151C>A
XR_002958363.1:n.2102C>A
XR_002958364.1:n.1848C>A
XR_002958365.1:n.1741C>A
NM_001171937.2:c.968C>A	NP_001165408.1:p.Ala323Asp
NM_001352262.2:c.1079C>A	NP_001339191.1:p.Ala360Asp
NM_025129.5:c.1076C>A MANE Select	NP_079405.2:p.Ala359Asp
NR_033269.2:n.1177C>A