Canonical Allele Identifier: CA250067756

Gene: ALG11 UTP14C

Linked Data

• dbSNP Id: rs973946630
• gnomAD v4: 13-52028169-T-C
• MyVariant Identifiers: chr13:g.52602305T>C (hg19) ; chr13:g.52028169T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.52028169T>C , CM000675.2:g.52028169T>C	GRCh38
NC_000013.10:g.52602305T>C , CM000675.1:g.52602305T>C	GRCh37
NC_000013.9:g.51500306T>C	NCBI36
NG_028038.1:g.20783T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000521508.2:c.1208-150T>C (ALG11) MANE Select	ENSP00000430236.1:n.1208-150T>C
ENST00000649340.2:c.1208-153T>C (ALG11)	ENSP00000497184.2:n.1208-153T>C
ENST00000649651.2:n.5512-150T>C (ALG11)
ENST00000649708.2:c.275+9026T>C (ALG11)	ENSP00000497459.2:n.275+9026T>C
ENST00000650049.2:c.*316-150T>C (ALG11)	ENSP00000497398.2:n.*316-150T>C
ENST00000679359.1:c.*960-150T>C (ALG11)	ENSP00000505579.1:n.*960-150T>C
ENST00000679495.1:n.44+15707T>C (ALG11)
ENST00000679544.1:c.276-150T>C (ALG11)	ENSP00000505560.1:n.276-150T>C
ENST00000680058.1:n.1111-150T>C (ALG11)
ENST00000680793.1:n.2200-150T>C (ALG11)
ENST00000680950.1:n.1335-150T>C (ALG11)
ENST00000681047.1:c.*933-150T>C (ALG11)	ENSP00000505034.1:n.*933-150T>C
ENST00000681053.1:c.977-150T>C (ALG11)	ENSP00000505307.1:n.977-150T>C
ENST00000681145.1:c.*1-153T>C (ALG11)	ENSP00000505163.1:n.*1-153T>C
ENST00000681226.1:n.396-150T>C (ALG11)
ENST00000519151.1:n.4144-150T>C (ALG11)
ENST00000521508.1:c.1208-150T>C (ALG11)	ENSP00000430236.1:n.1208-150T>C
ENST00000521776.2:c.-486-150T>C (UTP14C) MANE Select	ENSP00000428619.1:n.-486-150T>C
ENST00000523764.1:c.45-150T>C (ALG11)	ENSP00000429497.1:n.45-150T>C
NM_001004127.2:c.1208-150T>C (ALG11)	NP_001004127.2:n.1208-150T>C
NM_021645.5:c.-486-150T>C (UTP14C)	NP_067677.4:n.-486-150T>C
NR_036571.2:n.77-150T>C (ALG11)
NM_001004127.3:c.1208-150T>C (ALG11) MANE Select	NP_001004127.2:n.1208-150T>C
NM_021645.6:c.-486-150T>C (UTP14C) MANE Select	NP_067677.4:n.-486-150T>C
NR_036571.3:n.66-150T>C (ALG11)