Canonical Allele Identifier: CA508137629

Gene: FUZ

Linked Data

• MyVariant Identifiers: chr19:g.50310609T>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.49807352T>A , CM000681.2:g.49807352T>A	GRCh38
NC_000019.9:g.50310609T>A , CM000681.1:g.50310609T>A	GRCh37
NC_000019.8:g.55002421T>A	NCBI36
NG_032843.1:g.10959A>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000313777.9:c.1056A>T MANE Select	ENSP00000313309.4:p.Thr352=
ENST00000313777.8:c.1056A>T	ENSP00000313309.4:p.Thr352=
ENST00000377092.8:c.*796A>T	ENSP00000366296.5:n.*796A>T
ENST00000525130.5:c.*710A>T	ENSP00000433492.1:n.*710A>T
ENST00000525370.5:c.*713A>T	ENSP00000431420.1:n.*713A>T
ENST00000528094.5:c.948A>T	ENSP00000435177.1:p.Thr316=
ENST00000529634.2:c.212A>T
ENST00000533418.5:c.906A>T	ENSP00000431731.1:p.Thr302=
NM_001171937.1:c.948A>T	NP_001165408.1:p.Thr316=
NM_025129.4:c.1056A>T	NP_079405.2:p.Thr352=
NR_033269.1:n.1175A>T
XM_006723399.2:c.*42A>T	XP_006723462.1:n.*42A>T
XM_011527339.1:c.1059A>T	XP_011525641.1:p.Thr353=
XM_011527340.1:c.909A>T	XP_011525642.1:p.Thr303=
XM_011527341.1:c.909A>T	XP_011525643.1:p.Thr303=
XM_011527342.1:c.888A>T	XP_011525644.1:p.Thr296=
XM_011527343.1:c.*42A>T	XP_011525645.1:n.*42A>T
XM_011527344.1:c.861A>T	XP_011525646.1:p.Thr287=
XM_011527345.1:c.759A>T	XP_011525647.1:p.Thr253=
XM_011527346.1:c.759A>T	XP_011525648.1:p.Thr253=
XM_011527347.1:c.759A>T	XP_011525649.1:p.Thr253=
XR_935862.1:n.1424A>T
NM_001352262.1:c.1059A>T	NP_001339191.1:p.Thr353=
NM_001363663.1:c.906A>T	NP_001350592.1:p.Thr302=
XM_006723399.3:c.*42A>T	XP_006723462.1:n.*42A>T
XM_011527341.2:c.909A>T	XP_011525643.1:p.Thr303=
XM_011527342.2:c.888A>T	XP_011525644.1:p.Thr296=
XM_017027321.1:c.756A>T	XP_016882810.1:p.Thr252=
XM_017027322.2:c.*42A>T	XP_016882811.1:n.*42A>T
XM_024451729.1:c.888A>T	XP_024307497.1:p.Thr296=
XM_024451730.1:c.885A>T	XP_024307498.1:p.Thr295=
XR_001753764.1:n.1831A>T
XR_001753765.1:n.1131A>T
XR_002958363.1:n.2082A>T
XR_002958364.1:n.1828A>T
XR_002958365.1:n.1721A>T
NM_001171937.2:c.948A>T	NP_001165408.1:p.Thr316=
NM_001352262.2:c.1059A>T	NP_001339191.1:p.Thr353=
NM_025129.5:c.1056A>T MANE Select	NP_079405.2:p.Thr352=
NR_033269.2:n.1157A>T