Canonical Allele Identifier: CA2623120555

Gene: ALG11 UTP14C

Linked Data

• gnomAD v4: 13-52028198-C-A

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.52028198C>A , CM000675.2:g.52028198C>A	GRCh38
NC_000013.10:g.52602334C>A , CM000675.1:g.52602334C>A	GRCh37
NC_000013.9:g.51500335C>A	NCBI36
NG_028038.1:g.20812C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000521508.2:c.1208-121C>A (ALG11) MANE Select	ENSP00000430236.1:n.1208-121C>A
ENST00000649340.2:c.1208-124C>A (ALG11)	ENSP00000497184.2:n.1208-124C>A
ENST00000649651.2:n.5512-121C>A (ALG11)
ENST00000649708.2:c.275+9055C>A (ALG11)	ENSP00000497459.2:n.275+9055C>A
ENST00000650049.2:c.*316-121C>A (ALG11)	ENSP00000497398.2:n.*316-121C>A
ENST00000679359.1:c.*960-121C>A (ALG11)	ENSP00000505579.1:n.*960-121C>A
ENST00000679495.1:n.44+15736C>A (ALG11)
ENST00000679544.1:c.276-121C>A (ALG11)	ENSP00000505560.1:n.276-121C>A
ENST00000680058.1:n.1111-121C>A (ALG11)
ENST00000680793.1:n.2200-121C>A (ALG11)
ENST00000680950.1:n.1335-121C>A (ALG11)
ENST00000681047.1:c.*933-121C>A (ALG11)	ENSP00000505034.1:n.*933-121C>A
ENST00000681053.1:c.977-121C>A (ALG11)	ENSP00000505307.1:n.977-121C>A
ENST00000681145.1:c.*1-124C>A (ALG11)	ENSP00000505163.1:n.*1-124C>A
ENST00000681226.1:n.396-121C>A (ALG11)
ENST00000519151.1:n.4144-121C>A (ALG11)
ENST00000521508.1:c.1208-121C>A (ALG11)	ENSP00000430236.1:n.1208-121C>A
ENST00000521776.2:c.-486-121C>A (UTP14C) MANE Select	ENSP00000428619.1:n.-486-121C>A
ENST00000523764.1:c.45-121C>A (ALG11)	ENSP00000429497.1:n.45-121C>A
NM_001004127.2:c.1208-121C>A (ALG11)	NP_001004127.2:n.1208-121C>A
NM_021645.5:c.-486-121C>A (UTP14C)	NP_067677.4:n.-486-121C>A
NR_036571.2:n.77-121C>A (ALG11)
NM_001004127.3:c.1208-121C>A (ALG11) MANE Select	NP_001004127.2:n.1208-121C>A
NM_021645.6:c.-486-121C>A (UTP14C) MANE Select	NP_067677.4:n.-486-121C>A
NR_036571.3:n.66-121C>A (ALG11)