Canonical Allele Identifier: CA394673155

Gene: ALG1

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.5081056G>A , CM000678.2:g.5081056G>A	GRCh38
NC_000016.9:g.5131057G>A , CM000678.1:g.5131057G>A	GRCh37
NC_000016.8:g.5071058G>A	NCBI36
NG_009202.1:g.14248G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_019109.5:c.1072G>A MANE Select	NP_061982.3:p.Gly358Arg
ENST00000262374.10:c.1072G>A MANE Select	ENSP00000262374.5:p.Gly358Arg
NM_001330504.1:c.739G>A	NP_001317433.1:p.Gly247Arg
NM_001330504.2:c.739G>A	NP_001317433.1:p.Gly247Arg
NM_019109.4:c.1072G>A	NP_061982.3:p.Gly358Arg
ENST00000262374.9:c.1072G>A	ENSP00000262374.4:p.Gly358Arg
ENST00000544428.1:c.739G>A	ENSP00000440019.1:p.Gly247Arg
ENST00000588623.5:c.739G>A	ENSP00000468118.1:p.Gly247Arg
ENST00000591822.5:c.*973G>A	ENSP00000467865.1:n.*973G>A
ENST00000592793.6:n.3208G>A
ENST00000650085.1:n.1896G>A
ENST00000682020.1:c.478G>A	ENSP00000508075.1:p.Gly160Arg
ENST00000682206.1:c.*164G>A	ENSP00000508285.1:n.*164G>A
ENST00000682314.1:n.1120G>A
ENST00000682327.1:c.544G>A	ENSP00000507058.1:p.Gly182Arg
ENST00000682349.1:n.3214G>A
ENST00000682703.1:n.4040G>A
ENST00000682797.1:c.*164G>A	ENSP00000507582.1:n.*164G>A
ENST00000682985.1:c.583G>A	ENSP00000507598.1:p.Gly195Arg
ENST00000683433.1:c.328G>A	ENSP00000507463.1:p.Ala110Thr
ENST00000683685.1:n.1946G>A
ENST00000683710.1:c.*1039G>A	ENSP00000506785.1:n.*1039G>A
ENST00000683739.1:c.739G>A	ENSP00000507002.1:p.Gly247Arg
ENST00000683772.1:n.1116G>A
ENST00000684008.1:c.1010G>A	ENSP00000507962.1:n.1010G>A
ENST00000684190.1:c.1033G>A	ENSP00000507554.1:p.Gly345Arg
ENST00000684335.1:c.961+1249G>A	ENSP00000508112.1:n.961+1249G>A
XM_011522565.1:c.739G>A	XP_011520867.1:p.Gly247Arg
XM_017023457.2:c.1033G>A	XP_016878946.1:p.Gly345Arg
XM_017023458.1:c.739G>A	XP_016878947.1:p.Gly247Arg
XR_932882.3:n.1101G>A