Canonical Allele Identifier: CA406900327

Gene: FUZ

Linked Data

• gnomAD v4: 19-49807317-G-T
• MyVariant Identifiers: chr19:g.50310574G>T (hg19) ; chr19:g.49807317G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.49807317G>T , CM000681.2:g.49807317G>T	GRCh38
NC_000019.9:g.50310574G>T , CM000681.1:g.50310574G>T	GRCh37
NC_000019.8:g.55002386G>T	NCBI36
NG_032843.1:g.10994C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000313777.9:c.1091C>A MANE Select	ENSP00000313309.4:p.Ala364Asp
ENST00000313777.8:c.1091C>A	ENSP00000313309.4:p.Ala364Asp
ENST00000377092.8:c.*831C>A	ENSP00000366296.5:n.*831C>A
ENST00000525130.5:c.*745C>A	ENSP00000433492.1:n.*745C>A
ENST00000525370.5:c.*748C>A	ENSP00000431420.1:n.*748C>A
ENST00000528094.5:c.983C>A	ENSP00000435177.1:p.Ala328Asp
ENST00000529634.2:c.247C>A
ENST00000533418.5:c.941C>A	ENSP00000431731.1:p.Ala314Asp
NM_001171937.1:c.983C>A	NP_001165408.1:p.Ala328Asp
NM_025129.4:c.1091C>A	NP_079405.2:p.Ala364Asp
NR_033269.1:n.1210C>A
XM_006723399.2:c.*77C>A	XP_006723462.1:n.*77C>A
XM_011527339.1:c.1094C>A	XP_011525641.1:p.Ala365Asp
XM_011527340.1:c.944C>A	XP_011525642.1:p.Ala315Asp
XM_011527341.1:c.944C>A	XP_011525643.1:p.Ala315Asp
XM_011527342.1:c.923C>A	XP_011525644.1:p.Ala308Asp
XM_011527343.1:c.*77C>A	XP_011525645.1:n.*77C>A
XM_011527344.1:c.896C>A	XP_011525646.1:p.Ala299Asp
XM_011527345.1:c.794C>A	XP_011525647.1:p.Ala265Asp
XM_011527346.1:c.794C>A	XP_011525648.1:p.Ala265Asp
XM_011527347.1:c.794C>A	XP_011525649.1:p.Ala265Asp
XR_935862.1:n.1459C>A
NM_001352262.1:c.1094C>A	NP_001339191.1:p.Ala365Asp
NM_001363663.1:c.941C>A	NP_001350592.1:p.Ala314Asp
XM_006723399.3:c.*77C>A	XP_006723462.1:n.*77C>A
XM_011527341.2:c.944C>A	XP_011525643.1:p.Ala315Asp
XM_011527342.2:c.923C>A	XP_011525644.1:p.Ala308Asp
XM_017027321.1:c.791C>A	XP_016882810.1:p.Ala264Asp
XM_017027322.2:c.*77C>A	XP_016882811.1:n.*77C>A
XM_024451729.1:c.923C>A	XP_024307497.1:p.Ala308Asp
XM_024451730.1:c.920C>A	XP_024307498.1:p.Ala307Asp
XR_001753764.1:n.1866C>A
XR_001753765.1:n.1166C>A
XR_002958363.1:n.2117C>A
XR_002958364.1:n.1863C>A
XR_002958365.1:n.1756C>A
NM_001171937.2:c.983C>A	NP_001165408.1:p.Ala328Asp
NM_001352262.2:c.1094C>A	NP_001339191.1:p.Ala365Asp
NM_025129.5:c.1091C>A MANE Select	NP_079405.2:p.Ala364Asp
NR_033269.2:n.1192C>A