Canonical Allele Identifier: CA6990025

Gene: ALG11 UTP14C

Linked Data - Variant Effect Evidence

Linked Data - Sequence & Population

Linked Data - NCBI & NCI

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.52024890A>C , CM000675.2:g.52024890A>C	GRCh38
NC_000013.10:g.52599026A>C , CM000675.1:g.52599026A>C	GRCh37
NC_000013.9:g.51497027A>C	NCBI36
NG_028038.1:g.17504A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000521508.2:c.1160A>C (ALG11) MANE Select	ENSP00000430236.1:p.Glu387Ala
ENST00000649340.2:c.1160A>C (ALG11)	ENSP00000497184.2:p.Glu387Ala
ENST00000649651.2:n.5464A>C (ALG11)
ENST00000649708.2:c.275+5747A>C (ALG11)	ENSP00000497459.2:n.275+5747A>C
ENST00000650049.2:c.*268A>C (ALG11)	ENSP00000497398.2:n.*268A>C
ENST00000679359.1:c.*912A>C (ALG11)	ENSP00000505579.1:n.*912A>C
ENST00000679495.1:n.44+12428A>C (ALG11)
ENST00000679544.1:c.276-3429A>C (ALG11)	ENSP00000505560.1:n.276-3429A>C
ENST00000680058.1:n.1063A>C (ALG11)
ENST00000680793.1:n.2200-3429A>C (ALG11)
ENST00000680950.1:n.1287A>C (ALG11)
ENST00000681047.1:c.*885A>C (ALG11)	ENSP00000505034.1:n.*885A>C
ENST00000681053.1:c.929A>C (ALG11)	ENSP00000505307.1:p.Glu310Ala
ENST00000681145.1:c.*1-3432A>C (ALG11)	ENSP00000505163.1:n.*1-3432A>C
ENST00000681226.1:n.396-3429A>C (ALG11)
ENST00000519151.1:n.4096A>C (ALG11)
ENST00000521508.1:c.1160A>C (ALG11)	ENSP00000430236.1:p.Glu387Ala
ENST00000521776.2:c.-534A>C (UTP14C) MANE Select	ENSP00000428619.1:n.-534A>C
ENST00000523764.1:c.45-3429A>C (ALG11)	ENSP00000429497.1:n.45-3429A>C
NM_001004127.2:c.1160A>C (ALG11)	NP_001004127.2:p.Glu387Ala
NM_021645.5:c.-534A>C (UTP14C)	NP_067677.4:n.-534A>C
NR_036571.2:n.77-3429A>C (ALG11)
NM_001004127.3:c.1160A>C (ALG11) MANE Select	NP_001004127.2:p.Glu387Ala
NM_021645.6:c.-534A>C (UTP14C) MANE Select	NP_067677.4:n.-534A>C
NR_036571.3:n.66-3429A>C (ALG11)