Canonical Allele Identifier: CA388013006

Gene: ALG11

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.52024094A>C , CM000675.2:g.52024094A>C	GRCh38
NC_000013.10:g.52598230A>C , CM000675.1:g.52598230A>C	GRCh37
NC_000013.9:g.51496231A>C	NCBI36
NG_028038.1:g.16708A>C

Transcript Alleles

HGVS	Amino-acid Change
NM_001004127.3:c.364A>C MANE Select	NP_001004127.2:p.Ile122Leu
ENST00000521508.2:c.364A>C MANE Select	ENSP00000430236.1:p.Ile122Leu
NM_001004127.2:c.364A>C	NP_001004127.2:p.Ile122Leu
NR_036571.2:n.77-4225A>C
NR_036571.3:n.66-4225A>C
ENST00000519151.1:n.3300A>C
ENST00000521508.1:c.364A>C	ENSP00000430236.1:p.Ile122Leu
ENST00000523764.1:c.45-4225A>C	ENSP00000429497.1:n.45-4225A>C
ENST00000649340.2:c.364A>C	ENSP00000497184.2:p.Ile122Leu
ENST00000649651.2:n.4668A>C
ENST00000649708.2:c.275+4951A>C	ENSP00000497459.2:n.275+4951A>C
ENST00000650049.2:c.276-492A>C	ENSP00000497398.2:n.276-492A>C
ENST00000679359.1:c.*116A>C	ENSP00000505579.1:n.*116A>C
ENST00000679495.1:n.44+11632A>C
ENST00000679544.1:c.276-4225A>C	ENSP00000505560.1:n.276-4225A>C
ENST00000680058.1:n.267A>C
ENST00000680793.1:n.2200-4225A>C
ENST00000680950.1:n.491A>C
ENST00000681047.1:c.*89A>C	ENSP00000505034.1:n.*89A>C
ENST00000681053.1:c.133A>C	ENSP00000505307.1:p.Ile45Leu
ENST00000681145.1:c.*1-4228A>C	ENSP00000505163.1:n.*1-4228A>C
ENST00000681226.1:n.396-4225A>C