Canonical Allele Identifier: CA16619817
Gene: ALG11 HGNC NCBI
UTP14C HGNC NCBI

Linked Data

ClinVar Variation Id: 422476
ClinVar RCV Id: RCV000480080 RCV001200938
dbSNP Id: rs1064795803
gnomAD v4: 13-52028334-T-G
MyVariant Identifiers: chr13:g.52602470T>G (hg19) chr13:g.52028334T>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.52028334T>G , CM000675.2:g.52028334T>G GRCh38
NC_000013.10:g.52602470T>G , CM000675.1:g.52602470T>G GRCh37
NC_000013.9:g.51500471T>G NCBI36
NG_028038.1:g.20948T>G

Transcript Alleles

HGVS Amino-acid change
ENST00000521508.2:c.1223T>G (ALG11) MANE Select ENSP00000430236.1:p.Met408Arg
ENST00000649340.2:c.1220T>G (ALG11) ENSP00000497184.2:p.Met407Arg
ENST00000649651.2:n.5527T>G (ALG11)
ENST00000649708.2:c.275+9191T>G (ALG11) ENSP00000497459.2:n.275+9191T>G
ENST00000650049.2:c.*331T>G (ALG11) ENSP00000497398.2:n.*331T>G
ENST00000679359.1:c.*975T>G (ALG11) ENSP00000505579.1:n.*975T>G
ENST00000679495.1:n.44+15872T>G (ALG11)
ENST00000679544.1:c.291T>G (ALG11) ENSP00000505560.1:p.Tyr97Ter
ENST00000680058.1:n.1126T>G (ALG11)
ENST00000680793.1:n.2215T>G (ALG11)
ENST00000680950.1:n.1350T>G (ALG11)
ENST00000681047.1:c.*948T>G (ALG11) ENSP00000505034.1:n.*948T>G
ENST00000681053.1:c.992T>G (ALG11) ENSP00000505307.1:p.Met331Arg
ENST00000681145.1:c.*13T>G (ALG11) ENSP00000505163.1:n.*13T>G
ENST00000681226.1:n.411T>G (ALG11)
ENST00000519151.1:n.4159T>G (ALG11)
ENST00000521508.1:c.1223T>G (ALG11) ENSP00000430236.1:p.Met408Arg
ENST00000521776.2:c.-471T>G (UTP14C) MANE Select ENSP00000428619.1:n.-471T>G
ENST00000523764.1:c.60T>G (ALG11) ENSP00000429497.1:p.Tyr20Ter
NM_001004127.2:c.1223T>G (ALG11) NP_001004127.2:p.Met408Arg
NM_021645.5:c.-471T>G (UTP14C) NP_067677.4:n.-471T>G
NR_036571.2:n.92T>G (ALG11)
NM_001004127.3:c.1223T>G (ALG11) MANE Select NP_001004127.2:p.Met408Arg
NM_021645.6:c.-471T>G (UTP14C) MANE Select NP_067677.4:n.-471T>G
NR_036571.3:n.81T>G (ALG11)
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