Canonical Allele Identifier: CA388017266

Gene: ALG11

Linked Data

• MyVariant Identifiers: chr13:g.52598813C>A (hg19) ; chr13:g.52024677C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.52024677C>A , CM000675.2:g.52024677C>A	GRCh38
NC_000013.10:g.52598813C>A , CM000675.1:g.52598813C>A	GRCh37
NC_000013.9:g.51496814C>A	NCBI36
NG_028038.1:g.17291C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000521508.2:c.947C>A MANE Select	ENSP00000430236.1:p.Pro316Gln
ENST00000649340.2:c.947C>A	ENSP00000497184.2:p.Pro316Gln
ENST00000649651.2:n.5251C>A
ENST00000649708.2:c.275+5534C>A	ENSP00000497459.2:n.275+5534C>A
ENST00000650049.2:c.*55C>A	ENSP00000497398.2:n.*55C>A
ENST00000679359.1:c.*699C>A	ENSP00000505579.1:n.*699C>A
ENST00000679495.1:n.44+12215C>A
ENST00000679544.1:c.276-3642C>A	ENSP00000505560.1:n.276-3642C>A
ENST00000680058.1:n.850C>A
ENST00000680793.1:n.2200-3642C>A
ENST00000680950.1:n.1074C>A
ENST00000681047.1:c.*672C>A	ENSP00000505034.1:n.*672C>A
ENST00000681053.1:c.716C>A	ENSP00000505307.1:p.Pro239Gln
ENST00000681145.1:c.*1-3645C>A	ENSP00000505163.1:n.*1-3645C>A
ENST00000681226.1:n.396-3642C>A
ENST00000519151.1:n.3883C>A
ENST00000521508.1:c.947C>A	ENSP00000430236.1:p.Pro316Gln
ENST00000523764.1:c.45-3642C>A	ENSP00000429497.1:n.45-3642C>A
NM_001004127.2:c.947C>A	NP_001004127.2:p.Pro316Gln
NR_036571.2:n.77-3642C>A
NM_001004127.3:c.947C>A MANE Select	NP_001004127.2:p.Pro316Gln
NR_036571.3:n.66-3642C>A