Canonical Allele Identifier: CA484025745

Gene: ALG11

Linked Data

• dbSNP Id: rs1954221957
• gnomAD v4: 13-52024678-A-G
• MyVariant Identifiers: chr13:g.52598814A>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.52024678A>G , CM000675.2:g.52024678A>G	GRCh38
NC_000013.10:g.52598814A>G , CM000675.1:g.52598814A>G	GRCh37
NC_000013.9:g.51496815A>G	NCBI36
NG_028038.1:g.17292A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000521508.2:c.948A>G MANE Select	ENSP00000430236.1:p.Pro316=
ENST00000649340.2:c.948A>G	ENSP00000497184.2:p.Pro316=
ENST00000649651.2:n.5252A>G
ENST00000649708.2:c.275+5535A>G	ENSP00000497459.2:n.275+5535A>G
ENST00000650049.2:c.*56A>G	ENSP00000497398.2:n.*56A>G
ENST00000679359.1:c.*700A>G	ENSP00000505579.1:n.*700A>G
ENST00000679495.1:n.44+12216A>G
ENST00000679544.1:c.276-3641A>G	ENSP00000505560.1:n.276-3641A>G
ENST00000680058.1:n.851A>G
ENST00000680793.1:n.2200-3641A>G
ENST00000680950.1:n.1075A>G
ENST00000681047.1:c.*673A>G	ENSP00000505034.1:n.*673A>G
ENST00000681053.1:c.717A>G	ENSP00000505307.1:p.Pro239=
ENST00000681145.1:c.*1-3644A>G	ENSP00000505163.1:n.*1-3644A>G
ENST00000681226.1:n.396-3641A>G
ENST00000519151.1:n.3884A>G
ENST00000521508.1:c.948A>G	ENSP00000430236.1:p.Pro316=
ENST00000523764.1:c.45-3641A>G	ENSP00000429497.1:n.45-3641A>G
NM_001004127.2:c.948A>G	NP_001004127.2:p.Pro316=
NR_036571.2:n.77-3641A>G
NM_001004127.3:c.948A>G MANE Select	NP_001004127.2:p.Pro316=
NR_036571.3:n.66-3641A>G