Canonical Allele Identifier: CA15781968

Gene: ALG11

Linked Data

• ClinVar Variation Id: 487323
• ClinVar RCV Id: RCV000576187
• dbSNP Id: rs77505745
• gnomAD v2: 13-52586922-T-C
• gnomAD v3: 13-52012786-T-C
• gnomAD v4: 13-52012786-T-C
• MyVariant Identifiers: chr13:g.52586922T>C (hg19) ; chr13:g.52012786T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.52012786T>C , CM000675.2:g.52012786T>C	GRCh38
NC_000013.10:g.52586922T>C , CM000675.1:g.52586922T>C	GRCh37
NC_000013.9:g.51484923T>C	NCBI36
NG_008806.1:g.3709A>G
NG_028038.1:g.5400T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000521508.2:c.44+324T>C MANE Select	ENSP00000430236.1:n.44+324T>C
ENST00000649340.2:c.44+324T>C	ENSP00000497184.2:n.44+324T>C
ENST00000649708.2:c.44+324T>C	ENSP00000497459.2:n.44+324T>C
ENST00000650049.2:c.44+324T>C	ENSP00000497398.2:n.44+324T>C
ENST00000679359.1:c.44+324T>C	ENSP00000505579.1:n.44+324T>C
ENST00000679495.1:n.44+324T>C
ENST00000679544.1:c.44+324T>C	ENSP00000505560.1:n.44+324T>C
ENST00000680793.1:n.65+324T>C
ENST00000680950.1:n.171+212T>C
ENST00000681047.1:c.44+324T>C	ENSP00000505034.1:n.44+324T>C
ENST00000681053.1:c.44+324T>C	ENSP00000505307.1:n.44+324T>C
ENST00000681145.1:c.44+324T>C	ENSP00000505163.1:n.44+324T>C
ENST00000681226.1:n.164+212T>C
ENST00000521508.1:c.44+324T>C	ENSP00000430236.1:n.44+324T>C
ENST00000523764.1:c.44+324T>C	ENSP00000429497.1:n.44+324T>C
ENST00000616513.1:c.44+324T>C	ENSP00000481922.1:n.44+324T>C
NM_001004127.2:c.44+324T>C	NP_001004127.2:n.44+324T>C
NR_036571.2:n.76+324T>C
NM_001004127.3:c.44+324T>C MANE Select	NP_001004127.2:n.44+324T>C
NR_036571.3:n.65+324T>C