Canonical Allele Identifier: CA15788387

Gene: ALG11 UTP14C

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.52024999A>G , CM000675.2:g.52024999A>G	GRCh38
NC_000013.10:g.52599135A>G , CM000675.1:g.52599135A>G	GRCh37
NC_000013.9:g.51497136A>G	NCBI36
NG_028038.1:g.17613A>G

Transcript Alleles

HGVS	Amino-acid Change
NM_001004127.3:c.1207+62A>G (ALG11) MANE Select	NP_001004127.2:n.1207+62A>G
NM_021645.6:c.-487+62A>G (UTP14C) MANE Select	NP_067677.4:n.-487+62A>G
ENST00000521508.2:c.1207+62A>G (ALG11) MANE Select	ENSP00000430236.1:n.1207+62A>G
ENST00000521776.2:c.-487+62A>G (UTP14C) MANE Select	ENSP00000428619.1:n.-487+62A>G
NM_001004127.2:c.1207+62A>G (ALG11)	NP_001004127.2:n.1207+62A>G
NM_021645.5:c.-487+62A>G (UTP14C)	NP_067677.4:n.-487+62A>G
NR_036571.2:n.77-3320A>G (ALG11)
NR_036571.3:n.66-3320A>G (ALG11)
ENST00000519151.1:n.4143+62A>G (ALG11)
ENST00000521508.1:c.1207+62A>G (ALG11)	ENSP00000430236.1:n.1207+62A>G
ENST00000523764.1:c.45-3320A>G (ALG11)	ENSP00000429497.1:n.45-3320A>G
ENST00000649340.2:c.1207+62A>G (ALG11)	ENSP00000497184.2:n.1207+62A>G
ENST00000649651.2:n.5511+62A>G (ALG11)
ENST00000649708.2:c.275+5856A>G (ALG11)	ENSP00000497459.2:n.275+5856A>G
ENST00000650049.2:c.*315+62A>G (ALG11)	ENSP00000497398.2:n.*315+62A>G
ENST00000679359.1:c.*959+62A>G (ALG11)	ENSP00000505579.1:n.*959+62A>G
ENST00000679495.1:n.44+12537A>G (ALG11)
ENST00000679544.1:c.276-3320A>G (ALG11)	ENSP00000505560.1:n.276-3320A>G
ENST00000680058.1:n.1110+62A>G (ALG11)
ENST00000680793.1:n.2200-3320A>G (ALG11)
ENST00000680950.1:n.1334+62A>G (ALG11)
ENST00000681047.1:c.*932+62A>G (ALG11)	ENSP00000505034.1:n.*932+62A>G
ENST00000681053.1:c.976+62A>G (ALG11)	ENSP00000505307.1:n.976+62A>G
ENST00000681145.1:c.*1-3323A>G (ALG11)	ENSP00000505163.1:n.*1-3323A>G
ENST00000681226.1:n.396-3320A>G (ALG11)