Canonical Allele Identifier: CA221377

Gene: ALG11 UTP14C

Linked Data

• ClinVar Variation Id: 93443
• ClinVar RCV Id: RCV000079329 ; RCV002305446
• dbSNP Id: rs398123525
• ExAC: 13:52602488 T / A
• gnomAD v2: 13-52602488-T-A
• gnomAD v4: 13-52028352-T-A
• MyVariant Identifiers: chr13:g.52602488T>A (hg19) ; chr13:g.52028352T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.52028352T>A , CM000675.2:g.52028352T>A	GRCh38
NC_000013.10:g.52602488T>A , CM000675.1:g.52602488T>A	GRCh37
NC_000013.9:g.51500489T>A	NCBI36
NG_028038.1:g.20966T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000521508.2:c.1241T>A (ALG11) MANE Select	ENSP00000430236.1:p.Ile414Asn
ENST00000649340.2:c.1238T>A (ALG11)	ENSP00000497184.2:p.Ile413Asn
ENST00000649651.2:n.5545T>A (ALG11)
ENST00000649708.2:c.275+9209T>A (ALG11)	ENSP00000497459.2:n.275+9209T>A
ENST00000650049.2:c.*349T>A (ALG11)	ENSP00000497398.2:n.*349T>A
ENST00000679359.1:c.*993T>A (ALG11)	ENSP00000505579.1:n.*993T>A
ENST00000679495.1:n.44+15890T>A (ALG11)
ENST00000679544.1:c.309T>A (ALG11)	ENSP00000505560.1:p.Tyr103Ter
ENST00000680058.1:n.1144T>A (ALG11)
ENST00000680793.1:n.2233T>A (ALG11)
ENST00000680950.1:n.1368T>A (ALG11)
ENST00000681047.1:c.*966T>A (ALG11)	ENSP00000505034.1:n.*966T>A
ENST00000681053.1:c.1010T>A (ALG11)	ENSP00000505307.1:p.Ile337Asn
ENST00000681145.1:c.*31T>A (ALG11)	ENSP00000505163.1:n.*31T>A
ENST00000681226.1:n.429T>A (ALG11)
ENST00000519151.1:n.4177T>A (ALG11)
ENST00000521508.1:c.1241T>A (ALG11)	ENSP00000430236.1:p.Ile414Asn
ENST00000521776.2:c.-453T>A (UTP14C) MANE Select	ENSP00000428619.1:n.-453T>A
ENST00000523764.1:c.78T>A (ALG11)	ENSP00000429497.1:p.Tyr26Ter
NM_001004127.2:c.1241T>A (ALG11)	NP_001004127.2:p.Ile414Asn
NM_021645.5:c.-453T>A (UTP14C)	NP_067677.4:n.-453T>A
NR_036571.2:n.110T>A (ALG11)
NM_001004127.3:c.1241T>A (ALG11) MANE Select	NP_001004127.2:p.Ile414Asn
NM_021645.6:c.-453T>A (UTP14C) MANE Select	NP_067677.4:n.-453T>A
NR_036571.3:n.99T>A (ALG11)