Canonical Allele Identifier: CA508137624

Gene: FUZ

Linked Data

• MyVariant Identifiers: chr19:g.50310603A>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.49807346A>G , CM000681.2:g.49807346A>G	GRCh38
NC_000019.9:g.50310603A>G , CM000681.1:g.50310603A>G	GRCh37
NC_000019.8:g.55002415A>G	NCBI36
NG_032843.1:g.10965T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000313777.9:c.1062T>C MANE Select	ENSP00000313309.4:p.Asp354=
ENST00000313777.8:c.1062T>C	ENSP00000313309.4:p.Asp354=
ENST00000377092.8:c.*802T>C	ENSP00000366296.5:n.*802T>C
ENST00000525130.5:c.*716T>C	ENSP00000433492.1:n.*716T>C
ENST00000525370.5:c.*719T>C	ENSP00000431420.1:n.*719T>C
ENST00000528094.5:c.954T>C	ENSP00000435177.1:p.Asp318=
ENST00000529634.2:c.218T>C
ENST00000533418.5:c.912T>C	ENSP00000431731.1:p.Asp304=
NM_001171937.1:c.954T>C	NP_001165408.1:p.Asp318=
NM_025129.4:c.1062T>C	NP_079405.2:p.Asp354=
NR_033269.1:n.1181T>C
XM_006723399.2:c.*48T>C	XP_006723462.1:n.*48T>C
XM_011527339.1:c.1065T>C	XP_011525641.1:p.Asp355=
XM_011527340.1:c.915T>C	XP_011525642.1:p.Asp305=
XM_011527341.1:c.915T>C	XP_011525643.1:p.Asp305=
XM_011527342.1:c.894T>C	XP_011525644.1:p.Asp298=
XM_011527343.1:c.*48T>C	XP_011525645.1:n.*48T>C
XM_011527344.1:c.867T>C	XP_011525646.1:p.Asp289=
XM_011527345.1:c.765T>C	XP_011525647.1:p.Asp255=
XM_011527346.1:c.765T>C	XP_011525648.1:p.Asp255=
XM_011527347.1:c.765T>C	XP_011525649.1:p.Asp255=
XR_935862.1:n.1430T>C
NM_001352262.1:c.1065T>C	NP_001339191.1:p.Asp355=
NM_001363663.1:c.912T>C	NP_001350592.1:p.Asp304=
XM_006723399.3:c.*48T>C	XP_006723462.1:n.*48T>C
XM_011527341.2:c.915T>C	XP_011525643.1:p.Asp305=
XM_011527342.2:c.894T>C	XP_011525644.1:p.Asp298=
XM_017027321.1:c.762T>C	XP_016882810.1:p.Asp254=
XM_017027322.2:c.*48T>C	XP_016882811.1:n.*48T>C
XM_024451729.1:c.894T>C	XP_024307497.1:p.Asp298=
XM_024451730.1:c.891T>C	XP_024307498.1:p.Asp297=
XR_001753764.1:n.1837T>C
XR_001753765.1:n.1137T>C
XR_002958363.1:n.2088T>C
XR_002958364.1:n.1834T>C
XR_002958365.1:n.1727T>C
NM_001171937.2:c.954T>C	NP_001165408.1:p.Asp318=
NM_001352262.2:c.1065T>C	NP_001339191.1:p.Asp355=
NM_025129.5:c.1062T>C MANE Select	NP_079405.2:p.Asp354=
NR_033269.2:n.1163T>C