Canonical Allele Identifier: CA6990020

Gene: ALG11 UTP14C

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.52024837T>C , CM000675.2:g.52024837T>C	GRCh38
NC_000013.10:g.52598973T>C , CM000675.1:g.52598973T>C	GRCh37
NC_000013.9:g.51496974T>C	NCBI36
NG_028038.1:g.17451T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000521508.2:c.1107T>C (ALG11) MANE Select	ENSP00000430236.1:p.Tyr369=
ENST00000649340.2:c.1107T>C (ALG11)	ENSP00000497184.2:p.Tyr369=
ENST00000649651.2:n.5411T>C (ALG11)
ENST00000649708.2:c.275+5694T>C (ALG11)	ENSP00000497459.2:n.275+5694T>C
ENST00000650049.2:c.*215T>C (ALG11)	ENSP00000497398.2:n.*215T>C
ENST00000679359.1:c.*859T>C (ALG11)	ENSP00000505579.1:n.*859T>C
ENST00000679495.1:n.44+12375T>C (ALG11)
ENST00000679544.1:c.276-3482T>C (ALG11)	ENSP00000505560.1:n.276-3482T>C
ENST00000680058.1:n.1010T>C (ALG11)
ENST00000680793.1:n.2200-3482T>C (ALG11)
ENST00000680950.1:n.1234T>C (ALG11)
ENST00000681047.1:c.*832T>C (ALG11)	ENSP00000505034.1:n.*832T>C
ENST00000681053.1:c.876T>C (ALG11)	ENSP00000505307.1:p.Tyr292=
ENST00000681145.1:c.*1-3485T>C (ALG11)	ENSP00000505163.1:n.*1-3485T>C
ENST00000681226.1:n.396-3482T>C (ALG11)
ENST00000519151.1:n.4043T>C (ALG11)
ENST00000521508.1:c.1107T>C (ALG11)	ENSP00000430236.1:p.Tyr369=
ENST00000521776.2:c.-587T>C (UTP14C) MANE Select	ENSP00000428619.1:n.-587T>C
ENST00000523764.1:c.45-3482T>C (ALG11)	ENSP00000429497.1:n.45-3482T>C
NM_001004127.2:c.1107T>C (ALG11)	NP_001004127.2:p.Tyr369=
NM_021645.5:c.-587T>C (UTP14C)	NP_067677.4:n.-587T>C
NR_036571.2:n.77-3482T>C (ALG11)
NM_001004127.3:c.1107T>C (ALG11) MANE Select	NP_001004127.2:p.Tyr369=
NM_021645.6:c.-587T>C (UTP14C) MANE Select	NP_067677.4:n.-587T>C
NR_036571.3:n.66-3482T>C (ALG11)