Canonical Allele Identifier: CA406900449

Gene: FUZ

Linked Data

• MyVariant Identifiers: chr19:g.50310607T>G (hg19) ; chr19:g.49807350T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.49807350T>G , CM000681.2:g.49807350T>G	GRCh38
NC_000019.9:g.50310607T>G , CM000681.1:g.50310607T>G	GRCh37
NC_000019.8:g.55002419T>G	NCBI36
NG_032843.1:g.10961A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000313777.9:c.1058A>C MANE Select	ENSP00000313309.4:p.Glu353Ala
ENST00000313777.8:c.1058A>C	ENSP00000313309.4:p.Glu353Ala
ENST00000377092.8:c.*798A>C	ENSP00000366296.5:n.*798A>C
ENST00000525130.5:c.*712A>C	ENSP00000433492.1:n.*712A>C
ENST00000525370.5:c.*715A>C	ENSP00000431420.1:n.*715A>C
ENST00000528094.5:c.950A>C	ENSP00000435177.1:p.Glu317Ala
ENST00000529634.2:c.214A>C
ENST00000533418.5:c.908A>C	ENSP00000431731.1:p.Glu303Ala
NM_001171937.1:c.950A>C	NP_001165408.1:p.Glu317Ala
NM_025129.4:c.1058A>C	NP_079405.2:p.Glu353Ala
NR_033269.1:n.1177A>C
XM_006723399.2:c.*44A>C	XP_006723462.1:n.*44A>C
XM_011527339.1:c.1061A>C	XP_011525641.1:p.Glu354Ala
XM_011527340.1:c.911A>C	XP_011525642.1:p.Glu304Ala
XM_011527341.1:c.911A>C	XP_011525643.1:p.Glu304Ala
XM_011527342.1:c.890A>C	XP_011525644.1:p.Glu297Ala
XM_011527343.1:c.*44A>C	XP_011525645.1:n.*44A>C
XM_011527344.1:c.863A>C	XP_011525646.1:p.Glu288Ala
XM_011527345.1:c.761A>C	XP_011525647.1:p.Glu254Ala
XM_011527346.1:c.761A>C	XP_011525648.1:p.Glu254Ala
XM_011527347.1:c.761A>C	XP_011525649.1:p.Glu254Ala
XR_935862.1:n.1426A>C
NM_001352262.1:c.1061A>C	NP_001339191.1:p.Glu354Ala
NM_001363663.1:c.908A>C	NP_001350592.1:p.Glu303Ala
XM_006723399.3:c.*44A>C	XP_006723462.1:n.*44A>C
XM_011527341.2:c.911A>C	XP_011525643.1:p.Glu304Ala
XM_011527342.2:c.890A>C	XP_011525644.1:p.Glu297Ala
XM_017027321.1:c.758A>C	XP_016882810.1:p.Glu253Ala
XM_017027322.2:c.*44A>C	XP_016882811.1:n.*44A>C
XM_024451729.1:c.890A>C	XP_024307497.1:p.Glu297Ala
XM_024451730.1:c.887A>C	XP_024307498.1:p.Glu296Ala
XR_001753764.1:n.1833A>C
XR_001753765.1:n.1133A>C
XR_002958363.1:n.2084A>C
XR_002958364.1:n.1830A>C
XR_002958365.1:n.1723A>C
NM_001171937.2:c.950A>C	NP_001165408.1:p.Glu317Ala
NM_001352262.2:c.1061A>C	NP_001339191.1:p.Glu354Ala
NM_025129.5:c.1058A>C MANE Select	NP_079405.2:p.Glu353Ala
NR_033269.2:n.1159A>C