Canonical Allele Identifier: CA7890029

Gene: ALG1

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.5078831G>A , CM000678.2:g.5078831G>A	GRCh38
NC_000016.9:g.5128832G>A , CM000678.1:g.5128832G>A	GRCh37
NC_000016.8:g.5068833G>A	NCBI36
NG_009202.1:g.12023G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_019109.5:c.815G>A MANE Select	NP_061982.3:p.Arg272His
ENST00000262374.10:c.815G>A MANE Select	ENSP00000262374.5:p.Arg272His
NM_001330504.1:c.482G>A	NP_001317433.1:p.Arg161His
NM_001330504.2:c.482G>A	NP_001317433.1:p.Arg161His
NM_019109.4:c.815G>A	NP_061982.3:p.Arg272His
ENST00000262374.9:c.815G>A	ENSP00000262374.4:p.Arg272His
ENST00000544428.1:c.482G>A	ENSP00000440019.1:p.Arg161His
ENST00000588623.5:c.482G>A	ENSP00000468118.1:p.Arg161His
ENST00000591783.5:c.482G>A	ENSP00000464700.1:p.Arg161His
ENST00000591822.5:c.*716G>A	ENSP00000467865.1:n.*716G>A
ENST00000592793.6:n.2953G>A
ENST00000650085.1:n.1635G>A
ENST00000682020.1:c.221G>A	ENSP00000508075.1:p.Arg74His
ENST00000682206.1:c.815G>A	ENSP00000508285.1:p.Arg272His
ENST00000682314.1:n.859G>A
ENST00000682327.1:c.326G>A	ENSP00000507058.1:p.Arg109His
ENST00000682349.1:n.2953G>A
ENST00000682703.1:n.2953G>A
ENST00000682797.1:c.815G>A	ENSP00000507582.1:p.Arg272His
ENST00000682985.1:c.326G>A	ENSP00000507598.1:p.Arg109His
ENST00000683433.1:c.110G>A	ENSP00000507463.1:p.Arg37His
ENST00000683685.1:n.859G>A
ENST00000683710.1:c.*778G>A	ENSP00000506785.1:n.*778G>A
ENST00000683739.1:c.482G>A	ENSP00000507002.1:p.Arg161His
ENST00000683772.1:n.859G>A
ENST00000684008.1:c.749G>A	ENSP00000507962.1:p.Arg250His
ENST00000684190.1:c.815G>A	ENSP00000507554.1:p.Arg272His
ENST00000684335.1:c.815G>A	ENSP00000508112.1:p.Arg272His
XM_011522565.1:c.482G>A	XP_011520867.1:p.Arg161His
XM_017023457.2:c.815G>A	XP_016878946.1:p.Arg272His
XM_017023458.1:c.482G>A	XP_016878947.1:p.Arg161His
XR_932882.1:n.856G>A
XR_932882.3:n.840G>A