Canonical Allele Identifier: CA6990126

Gene: ALG11 UTP14C

Linked Data

• ClinVar Variation Id: 312419
• ClinVar RCV Id: RCV000384111
• dbSNP Id: rs775998263
• ExAC: 13:52603003 G / T
• gnomAD v2: 13-52603003-G-T
• gnomAD v4: 13-52028867-G-T
• MyVariant Identifiers: chr13:g.52603003G>T (hg19) ; chr13:g.52028867G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.52028867G>T , CM000675.2:g.52028867G>T	GRCh38
NC_000013.10:g.52603003G>T , CM000675.1:g.52603003G>T	GRCh37
NC_000013.9:g.51501004G>T	NCBI36
NG_028038.1:g.21481G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000521508.2:c.*277G>T (ALG11) MANE Select	ENSP00000430236.1:n.*277G>T
ENST00000649340.2:c.*277G>T (ALG11)	ENSP00000497184.2:n.*277G>T
ENST00000649651.2:n.6060G>T (ALG11)
ENST00000649708.2:c.275+9724G>T (ALG11)	ENSP00000497459.2:n.275+9724G>T
ENST00000679359.1:c.*1508G>T (ALG11)	ENSP00000505579.1:n.*1508G>T
ENST00000679495.1:n.44+16405G>T (ALG11)
ENST00000679544.1:c.*482G>T (ALG11)	ENSP00000505560.1:n.*482G>T
ENST00000680058.1:n.1659G>T (ALG11)
ENST00000680793.1:n.2748G>T (ALG11)
ENST00000680950.1:n.1883G>T (ALG11)
ENST00000681047.1:c.*1481G>T (ALG11)	ENSP00000505034.1:n.*1481G>T
ENST00000681053.1:c.*277G>T (ALG11)	ENSP00000505307.1:n.*277G>T
ENST00000681145.1:c.*546G>T (ALG11)	ENSP00000505163.1:n.*546G>T
ENST00000681226.1:n.944G>T (ALG11)
ENST00000521508.1:c.*277G>T (ALG11)	ENSP00000430236.1:n.*277G>T
ENST00000521776.2:c.63G>T (UTP14C) MANE Select	ENSP00000428619.1:p.Leu21Phe
ENST00000523764.1:c.*482G>T (ALG11)	ENSP00000429497.1:n.*482G>T
NM_001004127.2:c.*277G>T (ALG11)	NP_001004127.2:n.*277G>T
NM_021645.5:c.63G>T (UTP14C)	NP_067677.4:p.Leu21Phe
NR_036571.2:n.625G>T (ALG11)
NM_001004127.3:c.*277G>T (ALG11) MANE Select	NP_001004127.2:n.*277G>T
NM_021645.6:c.63G>T (UTP14C) MANE Select	NP_067677.4:p.Leu21Phe
NR_036571.3:n.614G>T (ALG11)