Canonical Allele Identifier: CA9584215

Gene: FUZ

Linked Data

• dbSNP Id: rs746783193
• ExAC: 19:50310606 T / A
• gnomAD v2: 19-50310606-T-A
• gnomAD v4: 19-49807349-T-A
• MyVariant Identifiers: chr19:g.50310606T>A (hg19) ; chr19:g.49807349T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.49807349T>A , CM000681.2:g.49807349T>A	GRCh38
NC_000019.9:g.50310606T>A , CM000681.1:g.50310606T>A	GRCh37
NC_000019.8:g.55002418T>A	NCBI36
NG_032843.1:g.10962A>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000313777.9:c.1059A>T MANE Select	ENSP00000313309.4:p.Glu353Asp
ENST00000313777.8:c.1059A>T	ENSP00000313309.4:p.Glu353Asp
ENST00000377092.8:c.*799A>T	ENSP00000366296.5:n.*799A>T
ENST00000525130.5:c.*713A>T	ENSP00000433492.1:n.*713A>T
ENST00000525370.5:c.*716A>T	ENSP00000431420.1:n.*716A>T
ENST00000528094.5:c.951A>T	ENSP00000435177.1:p.Glu317Asp
ENST00000529634.2:c.215A>T
ENST00000533418.5:c.909A>T	ENSP00000431731.1:p.Glu303Asp
NM_001171937.1:c.951A>T	NP_001165408.1:p.Glu317Asp
NM_025129.4:c.1059A>T	NP_079405.2:p.Glu353Asp
NR_033269.1:n.1178A>T
XM_006723399.2:c.*45A>T	XP_006723462.1:n.*45A>T
XM_011527339.1:c.1062A>T	XP_011525641.1:p.Glu354Asp
XM_011527340.1:c.912A>T	XP_011525642.1:p.Glu304Asp
XM_011527341.1:c.912A>T	XP_011525643.1:p.Glu304Asp
XM_011527342.1:c.891A>T	XP_011525644.1:p.Glu297Asp
XM_011527343.1:c.*45A>T	XP_011525645.1:n.*45A>T
XM_011527344.1:c.864A>T	XP_011525646.1:p.Glu288Asp
XM_011527345.1:c.762A>T	XP_011525647.1:p.Glu254Asp
XM_011527346.1:c.762A>T	XP_011525648.1:p.Glu254Asp
XM_011527347.1:c.762A>T	XP_011525649.1:p.Glu254Asp
XR_935862.1:n.1427A>T
NM_001352262.1:c.1062A>T	NP_001339191.1:p.Glu354Asp
NM_001363663.1:c.909A>T	NP_001350592.1:p.Glu303Asp
XM_006723399.3:c.*45A>T	XP_006723462.1:n.*45A>T
XM_011527341.2:c.912A>T	XP_011525643.1:p.Glu304Asp
XM_011527342.2:c.891A>T	XP_011525644.1:p.Glu297Asp
XM_017027321.1:c.759A>T	XP_016882810.1:p.Glu253Asp
XM_017027322.2:c.*45A>T	XP_016882811.1:n.*45A>T
XM_024451729.1:c.891A>T	XP_024307497.1:p.Glu297Asp
XM_024451730.1:c.888A>T	XP_024307498.1:p.Glu296Asp
XR_001753764.1:n.1834A>T
XR_001753765.1:n.1134A>T
XR_002958363.1:n.2085A>T
XR_002958364.1:n.1831A>T
XR_002958365.1:n.1724A>T
NM_001171937.2:c.951A>T	NP_001165408.1:p.Glu317Asp
NM_001352262.2:c.1062A>T	NP_001339191.1:p.Glu354Asp
NM_025129.5:c.1059A>T MANE Select	NP_079405.2:p.Glu353Asp
NR_033269.2:n.1160A>T