Canonical Allele Identifier: CA2091584889
Gene: ALG11 HGNC NCBI
UTP14C HGNC NCBI

Linked Data

dbSNP Id: rs1229686024

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.52028257C>G , CM000675.2:g.52028257C>G GRCh38
NC_000013.10:g.52602393C>G , CM000675.1:g.52602393C>G GRCh37
NC_000013.9:g.51500394C>G NCBI36
NG_028038.1:g.20871C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000521508.2:c.1208-62C>G (ALG11) MANE Select ENSP00000430236.1:n.1208-62C>G
ENST00000649340.2:c.1208-65C>G (ALG11) ENSP00000497184.2:n.1208-65C>G
ENST00000649651.2:n.5512-62C>G (ALG11)
ENST00000649708.2:c.275+9114C>G (ALG11) ENSP00000497459.2:n.275+9114C>G
ENST00000650049.2:c.*316-62C>G (ALG11) ENSP00000497398.2:n.*316-62C>G
ENST00000679359.1:c.*960-62C>G (ALG11) ENSP00000505579.1:n.*960-62C>G
ENST00000679495.1:n.44+15795C>G (ALG11)
ENST00000679544.1:c.276-62C>G (ALG11) ENSP00000505560.1:n.276-62C>G
ENST00000680058.1:n.1111-62C>G (ALG11)
ENST00000680793.1:n.2200-62C>G (ALG11)
ENST00000680950.1:n.1335-62C>G (ALG11)
ENST00000681047.1:c.*933-62C>G (ALG11) ENSP00000505034.1:n.*933-62C>G
ENST00000681053.1:c.977-62C>G (ALG11) ENSP00000505307.1:n.977-62C>G
ENST00000681145.1:c.*1-65C>G (ALG11) ENSP00000505163.1:n.*1-65C>G
ENST00000681226.1:n.396-62C>G (ALG11)
ENST00000519151.1:n.4144-62C>G (ALG11)
ENST00000521508.1:c.1208-62C>G (ALG11) ENSP00000430236.1:n.1208-62C>G
ENST00000521776.2:c.-486-62C>G (UTP14C) MANE Select ENSP00000428619.1:n.-486-62C>G
ENST00000523764.1:c.45-62C>G (ALG11) ENSP00000429497.1:n.45-62C>G
NM_001004127.2:c.1208-62C>G (ALG11) NP_001004127.2:n.1208-62C>G
NM_021645.5:c.-486-62C>G (UTP14C) NP_067677.4:n.-486-62C>G
NR_036571.2:n.77-62C>G (ALG11)
NM_001004127.3:c.1208-62C>G (ALG11) MANE Select NP_001004127.2:n.1208-62C>G
NM_021645.6:c.-486-62C>G (UTP14C) MANE Select NP_067677.4:n.-486-62C>G
NR_036571.3:n.66-62C>G (ALG11)