Canonical Allele Identifier: CA260043

Gene: ALG11 UTP14C

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.52024922G>A , CM000675.2:g.52024922G>A	GRCh38
NC_000013.10:g.52599058G>A , CM000675.1:g.52599058G>A	GRCh37
NC_000013.9:g.51497059G>A	NCBI36
NG_028038.1:g.17536G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_001004127.3:c.1192G>A (ALG11) MANE Select	NP_001004127.2:p.Glu398Lys
NM_021645.6:c.-502G>A (UTP14C) MANE Select	NP_067677.4:n.-502G>A
ENST00000521508.2:c.1192G>A (ALG11) MANE Select	ENSP00000430236.1:p.Glu398Lys
ENST00000521776.2:c.-502G>A (UTP14C) MANE Select	ENSP00000428619.1:n.-502G>A
NM_001004127.2:c.1192G>A (ALG11)	NP_001004127.2:p.Glu398Lys
NM_021645.5:c.-502G>A (UTP14C)	NP_067677.4:n.-502G>A
NR_036571.2:n.77-3397G>A (ALG11)
NR_036571.3:n.66-3397G>A (ALG11)
ENST00000519151.1:n.4128G>A (ALG11)
ENST00000521508.1:c.1192G>A (ALG11)	ENSP00000430236.1:p.Glu398Lys
ENST00000523764.1:c.45-3397G>A (ALG11)	ENSP00000429497.1:n.45-3397G>A
ENST00000649340.2:c.1192G>A (ALG11)	ENSP00000497184.2:p.Glu398Lys
ENST00000649651.2:n.5496G>A (ALG11)
ENST00000649708.2:c.275+5779G>A (ALG11)	ENSP00000497459.2:n.275+5779G>A
ENST00000650049.2:c.*300G>A (ALG11)	ENSP00000497398.2:n.*300G>A
ENST00000679359.1:c.*944G>A (ALG11)	ENSP00000505579.1:n.*944G>A
ENST00000679495.1:n.44+12460G>A (ALG11)
ENST00000679544.1:c.276-3397G>A (ALG11)	ENSP00000505560.1:n.276-3397G>A
ENST00000680058.1:n.1095G>A (ALG11)
ENST00000680793.1:n.2200-3397G>A (ALG11)
ENST00000680950.1:n.1319G>A (ALG11)
ENST00000681047.1:c.*917G>A (ALG11)	ENSP00000505034.1:n.*917G>A
ENST00000681053.1:c.961G>A (ALG11)	ENSP00000505307.1:p.Glu321Lys
ENST00000681145.1:c.*1-3400G>A (ALG11)	ENSP00000505163.1:n.*1-3400G>A
ENST00000681226.1:n.396-3397G>A (ALG11)