Canonical Allele Identifier: CA233463

Gene: ALG11 UTP14C

Linked Data

• ClinVar Variation Id: 166672
• ClinVar RCV Id: RCV000152772
• dbSNP Id: rs727503804
• MyVariant Identifiers: chr13:g.52602556T>G (hg19) ; chr13:g.52028420T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.52028420T>G , CM000675.2:g.52028420T>G	GRCh38
NC_000013.10:g.52602556T>G , CM000675.1:g.52602556T>G	GRCh37
NC_000013.9:g.51500557T>G	NCBI36
NG_028038.1:g.21034T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000521508.2:c.1309T>G (ALG11) MANE Select	ENSP00000430236.1:p.Phe437Val
ENST00000649340.2:c.1306T>G (ALG11)	ENSP00000497184.2:p.Phe436Val
ENST00000649651.2:n.5613T>G (ALG11)
ENST00000649708.2:c.275+9277T>G (ALG11)	ENSP00000497459.2:n.275+9277T>G
ENST00000650049.2:c.*417T>G (ALG11)	ENSP00000497398.2:n.*417T>G
ENST00000679359.1:c.*1061T>G (ALG11)	ENSP00000505579.1:n.*1061T>G
ENST00000679495.1:n.44+15958T>G (ALG11)
ENST00000679544.1:c.*35T>G (ALG11)	ENSP00000505560.1:n.*35T>G
ENST00000680058.1:n.1212T>G (ALG11)
ENST00000680793.1:n.2301T>G (ALG11)
ENST00000680950.1:n.1436T>G (ALG11)
ENST00000681047.1:c.*1034T>G (ALG11)	ENSP00000505034.1:n.*1034T>G
ENST00000681053.1:c.1078T>G (ALG11)	ENSP00000505307.1:p.Phe360Val
ENST00000681145.1:c.*99T>G (ALG11)	ENSP00000505163.1:n.*99T>G
ENST00000681226.1:n.497T>G (ALG11)
ENST00000519151.1:n.4245T>G (ALG11)
ENST00000521508.1:c.1309T>G (ALG11)	ENSP00000430236.1:p.Phe437Val
ENST00000521776.2:c.-385T>G (UTP14C) MANE Select	ENSP00000428619.1:n.-385T>G
ENST00000523764.1:c.*35T>G (ALG11)	ENSP00000429497.1:n.*35T>G
NM_001004127.2:c.1309T>G (ALG11)	NP_001004127.2:p.Phe437Val
NM_021645.5:c.-385T>G (UTP14C)	NP_067677.4:n.-385T>G
NR_036571.2:n.178T>G (ALG11)
NM_001004127.3:c.1309T>G (ALG11) MANE Select	NP_001004127.2:p.Phe437Val
NM_021645.6:c.-385T>G (UTP14C) MANE Select	NP_067677.4:n.-385T>G
NR_036571.3:n.167T>G (ALG11)