Canonical Allele Identifier: CA388017198

Gene: ALG11

Linked Data

• ClinVar Variation Id: 1517620
• ClinVar RCV Id: RCV002027486
• dbSNP Id: rs2140840089
• MyVariant Identifiers: chr13:g.52598803A>G (hg19) ; chr13:g.52024667A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.52024667A>G , CM000675.2:g.52024667A>G	GRCh38
NC_000013.10:g.52598803A>G , CM000675.1:g.52598803A>G	GRCh37
NC_000013.9:g.51496804A>G	NCBI36
NG_028038.1:g.17281A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000521508.2:c.937A>G MANE Select	ENSP00000430236.1:p.Lys313Glu
ENST00000649340.2:c.937A>G	ENSP00000497184.2:p.Lys313Glu
ENST00000649651.2:n.5241A>G
ENST00000649708.2:c.275+5524A>G	ENSP00000497459.2:n.275+5524A>G
ENST00000650049.2:c.*45A>G	ENSP00000497398.2:n.*45A>G
ENST00000679359.1:c.*689A>G	ENSP00000505579.1:n.*689A>G
ENST00000679495.1:n.44+12205A>G
ENST00000679544.1:c.276-3652A>G	ENSP00000505560.1:n.276-3652A>G
ENST00000680058.1:n.840A>G
ENST00000680793.1:n.2200-3652A>G
ENST00000680950.1:n.1064A>G
ENST00000681047.1:c.*662A>G	ENSP00000505034.1:n.*662A>G
ENST00000681053.1:c.706A>G	ENSP00000505307.1:p.Lys236Glu
ENST00000681145.1:c.*1-3655A>G	ENSP00000505163.1:n.*1-3655A>G
ENST00000681226.1:n.396-3652A>G
ENST00000519151.1:n.3873A>G
ENST00000521508.1:c.937A>G	ENSP00000430236.1:p.Lys313Glu
ENST00000523764.1:c.45-3652A>G	ENSP00000429497.1:n.45-3652A>G
NM_001004127.2:c.937A>G	NP_001004127.2:p.Lys313Glu
NR_036571.2:n.77-3652A>G
NM_001004127.3:c.937A>G MANE Select	NP_001004127.2:p.Lys313Glu
NR_036571.3:n.66-3652A>G