Canonical Allele Identifier: CA250067766

Gene: ALG11 UTP14C

Linked Data

• dbSNP Id: rs919463972
• gnomAD v3: 13-52028176-G-A
• gnomAD v4: 13-52028176-G-A
• MyVariant Identifiers: chr13:g.52602312G>A (hg19) ; chr13:g.52028176G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.52028176G>A , CM000675.2:g.52028176G>A	GRCh38
NC_000013.10:g.52602312G>A , CM000675.1:g.52602312G>A	GRCh37
NC_000013.9:g.51500313G>A	NCBI36
NG_028038.1:g.20790G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000521508.2:c.1208-143G>A (ALG11) MANE Select	ENSP00000430236.1:n.1208-143G>A
ENST00000649340.2:c.1208-146G>A (ALG11)	ENSP00000497184.2:n.1208-146G>A
ENST00000649651.2:n.5512-143G>A (ALG11)
ENST00000649708.2:c.275+9033G>A (ALG11)	ENSP00000497459.2:n.275+9033G>A
ENST00000650049.2:c.*316-143G>A (ALG11)	ENSP00000497398.2:n.*316-143G>A
ENST00000679359.1:c.*960-143G>A (ALG11)	ENSP00000505579.1:n.*960-143G>A
ENST00000679495.1:n.44+15714G>A (ALG11)
ENST00000679544.1:c.276-143G>A (ALG11)	ENSP00000505560.1:n.276-143G>A
ENST00000680058.1:n.1111-143G>A (ALG11)
ENST00000680793.1:n.2200-143G>A (ALG11)
ENST00000680950.1:n.1335-143G>A (ALG11)
ENST00000681047.1:c.*933-143G>A (ALG11)	ENSP00000505034.1:n.*933-143G>A
ENST00000681053.1:c.977-143G>A (ALG11)	ENSP00000505307.1:n.977-143G>A
ENST00000681145.1:c.*1-146G>A (ALG11)	ENSP00000505163.1:n.*1-146G>A
ENST00000681226.1:n.396-143G>A (ALG11)
ENST00000519151.1:n.4144-143G>A (ALG11)
ENST00000521508.1:c.1208-143G>A (ALG11)	ENSP00000430236.1:n.1208-143G>A
ENST00000521776.2:c.-486-143G>A (UTP14C) MANE Select	ENSP00000428619.1:n.-486-143G>A
ENST00000523764.1:c.45-143G>A (ALG11)	ENSP00000429497.1:n.45-143G>A
NM_001004127.2:c.1208-143G>A (ALG11)	NP_001004127.2:n.1208-143G>A
NM_021645.5:c.-486-143G>A (UTP14C)	NP_067677.4:n.-486-143G>A
NR_036571.2:n.77-143G>A (ALG11)
NM_001004127.3:c.1208-143G>A (ALG11) MANE Select	NP_001004127.2:n.1208-143G>A
NM_021645.6:c.-486-143G>A (UTP14C) MANE Select	NP_067677.4:n.-486-143G>A
NR_036571.3:n.66-143G>A (ALG11)