Canonical Allele Identifier: CA394673805

Gene: ALG1

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.5082587C>A , CM000678.2:g.5082587C>A	GRCh38
NC_000016.9:g.5132588C>A , CM000678.1:g.5132588C>A	GRCh37
NC_000016.8:g.5072589C>A	NCBI36
NG_009202.1:g.15779C>A

Transcript Alleles

HGVS	Amino-acid Change
NM_019109.5:c.1101C>A MANE Select	NP_061982.3:p.His367Gln
ENST00000262374.10:c.1101C>A MANE Select	ENSP00000262374.5:p.His367Gln
NM_001330504.1:c.768C>A	NP_001317433.1:p.His256Gln
NM_001330504.2:c.768C>A	NP_001317433.1:p.His256Gln
NM_019109.4:c.1101C>A	NP_061982.3:p.His367Gln
ENST00000262374.9:c.1101C>A	ENSP00000262374.4:p.His367Gln
ENST00000544428.1:c.768C>A	ENSP00000440019.1:p.His256Gln
ENST00000588623.5:c.768C>A	ENSP00000468118.1:p.His256Gln
ENST00000591822.5:c.*1002C>A	ENSP00000467865.1:n.*1002C>A
ENST00000592793.6:n.3237C>A
ENST00000650085.1:n.1925C>A
ENST00000682020.1:c.507C>A	ENSP00000508075.1:p.His169Gln
ENST00000682206.1:c.*196C>A	ENSP00000508285.1:n.*196C>A
ENST00000682314.1:n.1149C>A
ENST00000682327.1:c.573C>A	ENSP00000507058.1:p.His191Gln
ENST00000682349.1:n.3243C>A
ENST00000682703.1:n.4069C>A
ENST00000682797.1:c.*193C>A	ENSP00000507582.1:n.*193C>A
ENST00000682985.1:c.612C>A	ENSP00000507598.1:p.His204Gln
ENST00000683433.1:c.360C>A	ENSP00000507463.1:p.His120Gln
ENST00000683685.1:n.1975C>A
ENST00000683710.1:c.*1068C>A	ENSP00000506785.1:n.*1068C>A
ENST00000683739.1:c.768C>A	ENSP00000507002.1:p.His256Gln
ENST00000683772.1:n.1145C>A
ENST00000684008.1:c.1039C>A	ENSP00000507962.1:n.1039C>A
ENST00000684190.1:c.1062C>A	ENSP00000507554.1:p.His354Gln
ENST00000684335.1:c.990C>A	ENSP00000508112.1:p.His330Gln
XM_011522565.1:c.768C>A	XP_011520867.1:p.His256Gln
XM_017023457.2:c.1062C>A	XP_016878946.1:p.His354Gln
XM_017023458.1:c.768C>A	XP_016878947.1:p.His256Gln
XR_932882.3:n.1130C>A