Canonical Allele Identifier: CA2623120539

Gene: ALG11 UTP14C

Linked Data

• gnomAD v4: 13-52028179-G-T

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.52028179G>T , CM000675.2:g.52028179G>T	GRCh38
NC_000013.10:g.52602315G>T , CM000675.1:g.52602315G>T	GRCh37
NC_000013.9:g.51500316G>T	NCBI36
NG_028038.1:g.20793G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000521508.2:c.1208-140G>T (ALG11) MANE Select	ENSP00000430236.1:n.1208-140G>T
ENST00000649340.2:c.1208-143G>T (ALG11)	ENSP00000497184.2:n.1208-143G>T
ENST00000649651.2:n.5512-140G>T (ALG11)
ENST00000649708.2:c.275+9036G>T (ALG11)	ENSP00000497459.2:n.275+9036G>T
ENST00000650049.2:c.*316-140G>T (ALG11)	ENSP00000497398.2:n.*316-140G>T
ENST00000679359.1:c.*960-140G>T (ALG11)	ENSP00000505579.1:n.*960-140G>T
ENST00000679495.1:n.44+15717G>T (ALG11)
ENST00000679544.1:c.276-140G>T (ALG11)	ENSP00000505560.1:n.276-140G>T
ENST00000680058.1:n.1111-140G>T (ALG11)
ENST00000680793.1:n.2200-140G>T (ALG11)
ENST00000680950.1:n.1335-140G>T (ALG11)
ENST00000681047.1:c.*933-140G>T (ALG11)	ENSP00000505034.1:n.*933-140G>T
ENST00000681053.1:c.977-140G>T (ALG11)	ENSP00000505307.1:n.977-140G>T
ENST00000681145.1:c.*1-143G>T (ALG11)	ENSP00000505163.1:n.*1-143G>T
ENST00000681226.1:n.396-140G>T (ALG11)
ENST00000519151.1:n.4144-140G>T (ALG11)
ENST00000521508.1:c.1208-140G>T (ALG11)	ENSP00000430236.1:n.1208-140G>T
ENST00000521776.2:c.-486-140G>T (UTP14C) MANE Select	ENSP00000428619.1:n.-486-140G>T
ENST00000523764.1:c.45-140G>T (ALG11)	ENSP00000429497.1:n.45-140G>T
NM_001004127.2:c.1208-140G>T (ALG11)	NP_001004127.2:n.1208-140G>T
NM_021645.5:c.-486-140G>T (UTP14C)	NP_067677.4:n.-486-140G>T
NR_036571.2:n.77-140G>T (ALG11)
NM_001004127.3:c.1208-140G>T (ALG11) MANE Select	NP_001004127.2:n.1208-140G>T
NM_021645.6:c.-486-140G>T (UTP14C) MANE Select	NP_067677.4:n.-486-140G>T
NR_036571.3:n.66-140G>T (ALG11)