Canonical Allele Identifier: CA508137578

Gene: FUZ

Linked Data

• dbSNP Id: rs2123782867
• MyVariant Identifiers: chr19:g.50310546T>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.49807289T>C , CM000681.2:g.49807289T>C	GRCh38
NC_000019.9:g.50310546T>C , CM000681.1:g.50310546T>C	GRCh37
NC_000019.8:g.55002358T>C	NCBI36
NG_032843.1:g.11022A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000313777.9:c.1119A>G MANE Select	ENSP00000313309.4:p.Glu373=
ENST00000313777.8:c.1119A>G	ENSP00000313309.4:p.Glu373=
ENST00000377092.8:c.*859A>G	ENSP00000366296.5:n.*859A>G
ENST00000525130.5:c.*773A>G	ENSP00000433492.1:n.*773A>G
ENST00000525370.5:c.*776A>G	ENSP00000431420.1:n.*776A>G
ENST00000528094.5:c.1011A>G	ENSP00000435177.1:p.Glu337=
ENST00000529634.2:c.275A>G
ENST00000533418.5:c.969A>G	ENSP00000431731.1:p.Glu323=
NM_001171937.1:c.1011A>G	NP_001165408.1:p.Glu337=
NM_025129.4:c.1119A>G	NP_079405.2:p.Glu373=
NR_033269.1:n.1238A>G
XM_006723399.2:c.*105A>G	XP_006723462.1:n.*105A>G
XM_011527339.1:c.1122A>G	XP_011525641.1:p.Glu374=
XM_011527340.1:c.972A>G	XP_011525642.1:p.Glu324=
XM_011527341.1:c.972A>G	XP_011525643.1:p.Glu324=
XM_011527342.1:c.951A>G	XP_011525644.1:p.Glu317=
XM_011527343.1:c.*105A>G	XP_011525645.1:n.*105A>G
XM_011527344.1:c.924A>G	XP_011525646.1:p.Glu308=
XM_011527345.1:c.822A>G	XP_011525647.1:p.Glu274=
XM_011527346.1:c.822A>G	XP_011525648.1:p.Glu274=
XM_011527347.1:c.822A>G	XP_011525649.1:p.Glu274=
XR_935862.1:n.1487A>G
NM_001352262.1:c.1122A>G	NP_001339191.1:p.Glu374=
NM_001363663.1:c.969A>G	NP_001350592.1:p.Glu323=
XM_006723399.3:c.*105A>G	XP_006723462.1:n.*105A>G
XM_011527341.2:c.972A>G	XP_011525643.1:p.Glu324=
XM_011527342.2:c.951A>G	XP_011525644.1:p.Glu317=
XM_017027321.1:c.819A>G	XP_016882810.1:p.Glu273=
XM_017027322.2:c.*105A>G	XP_016882811.1:n.*105A>G
XM_024451729.1:c.951A>G	XP_024307497.1:p.Glu317=
XM_024451730.1:c.948A>G	XP_024307498.1:p.Glu316=
XR_001753764.1:n.1894A>G
XR_001753765.1:n.1194A>G
XR_002958363.1:n.2145A>G
XR_002958364.1:n.1891A>G
XR_002958365.1:n.1784A>G
NM_001171937.2:c.1011A>G	NP_001165408.1:p.Glu337=
NM_001352262.2:c.1122A>G	NP_001339191.1:p.Glu374=
NM_025129.5:c.1119A>G MANE Select	NP_079405.2:p.Glu373=
NR_033269.2:n.1220A>G