Canonical Allele Identifier: CA394678624

Gene: ALG1

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.5071980G>T , CM000678.2:g.5071980G>T	GRCh38
NC_000016.9:g.5121981G>T , CM000678.1:g.5121981G>T	GRCh37
NC_000016.8:g.5061982G>T	NCBI36
NG_009202.1:g.5172G>T

Transcript Alleles

HGVS	Amino-acid Change
NM_019109.5:c.131G>T MANE Select	NP_061982.3:p.Gly44Val
ENST00000262374.10:c.131G>T MANE Select	ENSP00000262374.5:p.Gly44Val
NM_019109.4:c.131G>T	NP_061982.3:p.Gly44Val
ENST00000262374.9:c.131G>T	ENSP00000262374.4:p.Gly44Val
ENST00000586840.1:c.131G>T	ENSP00000467538.1:p.Gly44Val
ENST00000588623.5:c.-125-971G>T	ENSP00000468118.1:n.-125-971G>T
ENST00000591822.5:c.131G>T	ENSP00000467865.1:p.Gly44Val
ENST00000592793.5:n.138G>T
ENST00000592793.6:n.138G>T
ENST00000650085.1:n.1013-971G>T
ENST00000682020.1:c.-55-5465G>T	ENSP00000508075.1:n.-55-5465G>T
ENST00000682206.1:c.131G>T	ENSP00000508285.1:p.Gly44Val
ENST00000682314.1:n.175G>T
ENST00000682327.1:c.-99-3408G>T	ENSP00000507058.1:n.-99-3408G>T
ENST00000682349.1:n.138G>T
ENST00000682703.1:n.138G>T
ENST00000682797.1:c.131G>T	ENSP00000507582.1:p.Gly44Val
ENST00000682985.1:c.-99-3408G>T	ENSP00000507598.1:n.-99-3408G>T
ENST00000683433.1:c.-55-5465G>T	ENSP00000507463.1:n.-55-5465G>T
ENST00000683685.1:n.175G>T
ENST00000683710.1:c.131G>T	ENSP00000506785.1:p.Gly44Val
ENST00000683772.1:n.175G>T
ENST00000684008.1:c.131G>T	ENSP00000507962.1:p.Gly44Val
ENST00000684190.1:c.131G>T	ENSP00000507554.1:p.Gly44Val
ENST00000684335.1:c.131G>T	ENSP00000508112.1:p.Gly44Val
XM_017023457.2:c.131G>T	XP_016878946.1:p.Gly44Val
XM_017023458.1:c.-359G>T	XP_016878947.1:n.-359G>T
XR_932882.1:n.172G>T
XR_932882.3:n.156G>T