Canonical Allele Identifier: CA6989929

Gene: ALG11

Linked Data

• ClinVar Variation Id: 312412
• ClinVar RCV Id: RCV001052506 ; RCV004021575
• dbSNP Id: rs202195109
• ExAC: 13:52598401 G / A
• gnomAD v2: 13-52598401-G-A
• gnomAD v3: 13-52024265-G-A
• gnomAD v4: 13-52024265-G-A
• COSMIC: COSM948009
• MyVariant Identifiers: chr13:g.52598401G>A (hg19) ; chr13:g.52024265G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.52024265G>A , CM000675.2:g.52024265G>A	GRCh38
NC_000013.10:g.52598401G>A , CM000675.1:g.52598401G>A	GRCh37
NC_000013.9:g.51496402G>A	NCBI36
NG_028038.1:g.16879G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000521508.2:c.535G>A MANE Select	ENSP00000430236.1:p.Ala179Thr
ENST00000649340.2:c.535G>A	ENSP00000497184.2:p.Ala179Thr
ENST00000649651.2:n.4839G>A
ENST00000649708.2:c.275+5122G>A	ENSP00000497459.2:n.275+5122G>A
ENST00000650049.2:c.276-321G>A	ENSP00000497398.2:n.276-321G>A
ENST00000679359.1:c.*287G>A	ENSP00000505579.1:n.*287G>A
ENST00000679495.1:n.44+11803G>A
ENST00000679544.1:c.276-4054G>A	ENSP00000505560.1:n.276-4054G>A
ENST00000680058.1:n.438G>A
ENST00000680793.1:n.2200-4054G>A
ENST00000680950.1:n.662G>A
ENST00000681047.1:c.*260G>A	ENSP00000505034.1:n.*260G>A
ENST00000681053.1:c.304G>A	ENSP00000505307.1:p.Ala102Thr
ENST00000681145.1:c.*1-4057G>A	ENSP00000505163.1:n.*1-4057G>A
ENST00000681226.1:n.396-4054G>A
ENST00000519151.1:n.3471G>A
ENST00000521508.1:c.535G>A	ENSP00000430236.1:p.Ala179Thr
ENST00000523764.1:c.45-4054G>A	ENSP00000429497.1:n.45-4054G>A
NM_001004127.2:c.535G>A	NP_001004127.2:p.Ala179Thr
NR_036571.2:n.77-4054G>A
NM_001004127.3:c.535G>A MANE Select	NP_001004127.2:p.Ala179Thr
NR_036571.3:n.66-4054G>A