Canonical Allele Identifier: CA484025735

Gene: ALG11

Linked Data

• MyVariant Identifiers: chr13:g.52598802A>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.52024666A>G , CM000675.2:g.52024666A>G	GRCh38
NC_000013.10:g.52598802A>G , CM000675.1:g.52598802A>G	GRCh37
NC_000013.9:g.51496803A>G	NCBI36
NG_028038.1:g.17280A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000521508.2:c.936A>G MANE Select	ENSP00000430236.1:p.Glu312=
ENST00000649340.2:c.936A>G	ENSP00000497184.2:p.Glu312=
ENST00000649651.2:n.5240A>G
ENST00000649708.2:c.275+5523A>G	ENSP00000497459.2:n.275+5523A>G
ENST00000650049.2:c.*44A>G	ENSP00000497398.2:n.*44A>G
ENST00000679359.1:c.*688A>G	ENSP00000505579.1:n.*688A>G
ENST00000679495.1:n.44+12204A>G
ENST00000679544.1:c.276-3653A>G	ENSP00000505560.1:n.276-3653A>G
ENST00000680058.1:n.839A>G
ENST00000680793.1:n.2200-3653A>G
ENST00000680950.1:n.1063A>G
ENST00000681047.1:c.*661A>G	ENSP00000505034.1:n.*661A>G
ENST00000681053.1:c.705A>G	ENSP00000505307.1:p.Glu235=
ENST00000681145.1:c.*1-3656A>G	ENSP00000505163.1:n.*1-3656A>G
ENST00000681226.1:n.396-3653A>G
ENST00000519151.1:n.3872A>G
ENST00000521508.1:c.936A>G	ENSP00000430236.1:p.Glu312=
ENST00000523764.1:c.45-3653A>G	ENSP00000429497.1:n.45-3653A>G
NM_001004127.2:c.936A>G	NP_001004127.2:p.Glu312=
NR_036571.2:n.77-3653A>G
NM_001004127.3:c.936A>G MANE Select	NP_001004127.2:p.Glu312=
NR_036571.3:n.66-3653A>G