Canonical Allele Identifier: CA388017242

Gene: ALG11

Linked Data

• MyVariant Identifiers: chr13:g.52598810A>T (hg19) ; chr13:g.52024674A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.52024674A>T , CM000675.2:g.52024674A>T	GRCh38
NC_000013.10:g.52598810A>T , CM000675.1:g.52598810A>T	GRCh37
NC_000013.9:g.51496811A>T	NCBI36
NG_028038.1:g.17288A>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000521508.2:c.944A>T MANE Select	ENSP00000430236.1:p.His315Leu
ENST00000649340.2:c.944A>T	ENSP00000497184.2:p.His315Leu
ENST00000649651.2:n.5248A>T
ENST00000649708.2:c.275+5531A>T	ENSP00000497459.2:n.275+5531A>T
ENST00000650049.2:c.*52A>T	ENSP00000497398.2:n.*52A>T
ENST00000679359.1:c.*696A>T	ENSP00000505579.1:n.*696A>T
ENST00000679495.1:n.44+12212A>T
ENST00000679544.1:c.276-3645A>T	ENSP00000505560.1:n.276-3645A>T
ENST00000680058.1:n.847A>T
ENST00000680793.1:n.2200-3645A>T
ENST00000680950.1:n.1071A>T
ENST00000681047.1:c.*669A>T	ENSP00000505034.1:n.*669A>T
ENST00000681053.1:c.713A>T	ENSP00000505307.1:p.His238Leu
ENST00000681145.1:c.*1-3648A>T	ENSP00000505163.1:n.*1-3648A>T
ENST00000681226.1:n.396-3645A>T
ENST00000519151.1:n.3880A>T
ENST00000521508.1:c.944A>T	ENSP00000430236.1:p.His315Leu
ENST00000523764.1:c.45-3645A>T	ENSP00000429497.1:n.45-3645A>T
NM_001004127.2:c.944A>T	NP_001004127.2:p.His315Leu
NR_036571.2:n.77-3645A>T
NM_001004127.3:c.944A>T MANE Select	NP_001004127.2:p.His315Leu
NR_036571.3:n.66-3645A>T