Canonical Allele Identifier: CA16619815
Gene: ALG11 HGNC NCBI

Linked Data

ClinVar Variation Id: 422475
ClinVar RCV Id: RCV000485363 RCV001200937
dbSNP Id: rs1064795802
gnomAD v4: 13-52024665-A-G
MyVariant Identifiers: chr13:g.52598801A>G (hg19) chr13:g.52024665A>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.52024665A>G , CM000675.2:g.52024665A>G GRCh38
NC_000013.10:g.52598801A>G , CM000675.1:g.52598801A>G GRCh37
NC_000013.9:g.51496802A>G NCBI36
NG_028038.1:g.17279A>G

Transcript Alleles

HGVS Amino-acid change
ENST00000521508.2:c.935A>G MANE Select ENSP00000430236.1:p.Glu312Gly
ENST00000649340.2:c.935A>G ENSP00000497184.2:p.Glu312Gly
ENST00000649651.2:n.5239A>G
ENST00000649708.2:c.275+5522A>G ENSP00000497459.2:n.275+5522A>G
ENST00000650049.2:c.*43A>G ENSP00000497398.2:n.*43A>G
ENST00000679359.1:c.*687A>G ENSP00000505579.1:n.*687A>G
ENST00000679495.1:n.44+12203A>G
ENST00000679544.1:c.276-3654A>G ENSP00000505560.1:n.276-3654A>G
ENST00000680058.1:n.838A>G
ENST00000680793.1:n.2200-3654A>G
ENST00000680950.1:n.1062A>G
ENST00000681047.1:c.*660A>G ENSP00000505034.1:n.*660A>G
ENST00000681053.1:c.704A>G ENSP00000505307.1:p.Glu235Gly
ENST00000681145.1:c.*1-3657A>G ENSP00000505163.1:n.*1-3657A>G
ENST00000681226.1:n.396-3654A>G
ENST00000519151.1:n.3871A>G
ENST00000521508.1:c.935A>G ENSP00000430236.1:p.Glu312Gly
ENST00000523764.1:c.45-3654A>G ENSP00000429497.1:n.45-3654A>G
NM_001004127.2:c.935A>G NP_001004127.2:p.Glu312Gly
NR_036571.2:n.77-3654A>G
NM_001004127.3:c.935A>G MANE Select NP_001004127.2:p.Glu312Gly
NR_036571.3:n.66-3654A>G
Search 100 bp 5'
Search 100 bp 3'