Canonical Allele Identifier: CA260044

Gene: ALG11

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.52024683A>C , CM000675.2:g.52024683A>C	GRCh38
NC_000013.10:g.52598819A>C , CM000675.1:g.52598819A>C	GRCh37
NC_000013.9:g.51496820A>C	NCBI36
NG_028038.1:g.17297A>C

Transcript Alleles

HGVS	Amino-acid Change
NM_001004127.3:c.953A>C MANE Select	NP_001004127.2:p.Gln318Pro
ENST00000521508.2:c.953A>C MANE Select	ENSP00000430236.1:p.Gln318Pro
NM_001004127.2:c.953A>C	NP_001004127.2:p.Gln318Pro
NR_036571.2:n.77-3636A>C
NR_036571.3:n.66-3636A>C
ENST00000519151.1:n.3889A>C
ENST00000521508.1:c.953A>C	ENSP00000430236.1:p.Gln318Pro
ENST00000523764.1:c.45-3636A>C	ENSP00000429497.1:n.45-3636A>C
ENST00000649340.2:c.953A>C	ENSP00000497184.2:p.Gln318Pro
ENST00000649651.2:n.5257A>C
ENST00000649708.2:c.275+5540A>C	ENSP00000497459.2:n.275+5540A>C
ENST00000650049.2:c.*61A>C	ENSP00000497398.2:n.*61A>C
ENST00000679359.1:c.*705A>C	ENSP00000505579.1:n.*705A>C
ENST00000679495.1:n.44+12221A>C
ENST00000679544.1:c.276-3636A>C	ENSP00000505560.1:n.276-3636A>C
ENST00000680058.1:n.856A>C
ENST00000680793.1:n.2200-3636A>C
ENST00000680950.1:n.1080A>C
ENST00000681047.1:c.*678A>C	ENSP00000505034.1:n.*678A>C
ENST00000681053.1:c.722A>C	ENSP00000505307.1:p.Gln241Pro
ENST00000681145.1:c.*1-3639A>C	ENSP00000505163.1:n.*1-3639A>C
ENST00000681226.1:n.396-3636A>C