Canonical Allele Identifier: CA4914709
Gene: GFUS HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.143613006C>T , CM000670.2:g.143613006C>T GRCh38
NC_000008.10:g.144695176C>T , CM000670.1:g.144695176C>T GRCh37
NC_000008.9:g.144766319C>T NCBI36
NG_051357.1:g.1609G>A

Transcript Alleles

HGVS Amino-acid Change
NM_003313.4:c.911-41G>A MANE Select NP_003304.1:n.911-41G>A
ENST00000425753.7:c.911-41G>A MANE Select ENSP00000398803.2:n.911-41G>A
NM_001317783.1:c.929-41G>A NP_001304712.1:n.929-41G>A
NM_001317783.2:c.929-41G>A NP_001304712.1:n.929-41G>A
NM_003313.3:c.911-41G>A NP_003304.1:n.911-41G>A
ENST00000425753.6:c.911-41G>A ENSP00000398803.2:n.911-41G>A
ENST00000524719.1:c.374G>A ENSP00000432088.1:n.374G>A
ENST00000527677.1:n.197-41G>A
ENST00000528920.5:n.617-41G>A
ENST00000529064.5:c.911-41G>A ENSP00000435386.1:n.911-41G>A
ENST00000531473.5:n.1873-41G>A
XM_005251051.2:c.911-41G>A XP_005251108.2:n.911-41G>A
XM_005251051.3:c.911-41G>A XP_005251108.2:n.911-41G>A
XM_005251052.2:c.929-41G>A XP_005251109.1:n.929-41G>A
XM_011517269.1:c.911-41G>A XP_011515571.1:n.911-41G>A