Canonical Allele Identifier: CA388017213

Gene: ALG11

Linked Data

• MyVariant Identifiers: chr13:g.52598806A>C (hg19) ; chr13:g.52024670A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.52024670A>C , CM000675.2:g.52024670A>C	GRCh38
NC_000013.10:g.52598806A>C , CM000675.1:g.52598806A>C	GRCh37
NC_000013.9:g.51496807A>C	NCBI36
NG_028038.1:g.17284A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000521508.2:c.940A>C MANE Select	ENSP00000430236.1:p.Asn314His
ENST00000649340.2:c.940A>C	ENSP00000497184.2:p.Asn314His
ENST00000649651.2:n.5244A>C
ENST00000649708.2:c.275+5527A>C	ENSP00000497459.2:n.275+5527A>C
ENST00000650049.2:c.*48A>C	ENSP00000497398.2:n.*48A>C
ENST00000679359.1:c.*692A>C	ENSP00000505579.1:n.*692A>C
ENST00000679495.1:n.44+12208A>C
ENST00000679544.1:c.276-3649A>C	ENSP00000505560.1:n.276-3649A>C
ENST00000680058.1:n.843A>C
ENST00000680793.1:n.2200-3649A>C
ENST00000680950.1:n.1067A>C
ENST00000681047.1:c.*665A>C	ENSP00000505034.1:n.*665A>C
ENST00000681053.1:c.709A>C	ENSP00000505307.1:p.Asn237His
ENST00000681145.1:c.*1-3652A>C	ENSP00000505163.1:n.*1-3652A>C
ENST00000681226.1:n.396-3649A>C
ENST00000519151.1:n.3876A>C
ENST00000521508.1:c.940A>C	ENSP00000430236.1:p.Asn314His
ENST00000523764.1:c.45-3649A>C	ENSP00000429497.1:n.45-3649A>C
NM_001004127.2:c.940A>C	NP_001004127.2:p.Asn314His
NR_036571.2:n.77-3649A>C
NM_001004127.3:c.940A>C MANE Select	NP_001004127.2:p.Asn314His
NR_036571.3:n.66-3649A>C