Canonical Allele Identifier: CA7890067

Gene: ALG1

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.5079062A>G , CM000678.2:g.5079062A>G	GRCh38
NC_000016.9:g.5129063A>G , CM000678.1:g.5129063A>G	GRCh37
NC_000016.8:g.5069064A>G	NCBI36
NG_009202.1:g.12254A>G

Transcript Alleles

HGVS	Amino-acid Change
NM_019109.5:c.863-2A>G MANE Select	NP_061982.3:n.863-2A>G
ENST00000262374.10:c.863-2A>G MANE Select	ENSP00000262374.5:n.863-2A>G
NM_001330504.1:c.530-2A>G	NP_001317433.1:n.530-2A>G
NM_001330504.2:c.530-2A>G	NP_001317433.1:n.530-2A>G
NM_019109.4:c.863-2A>G	NP_061982.3:n.863-2A>G
ENST00000262374.9:c.863-2A>G	ENSP00000262374.4:n.863-2A>G
ENST00000544428.1:c.530-2A>G	ENSP00000440019.1:n.530-2A>G
ENST00000588623.5:c.530-2A>G	ENSP00000468118.1:n.530-2A>G
ENST00000591822.5:c.*764-2A>G	ENSP00000467865.1:n.*764-2A>G
ENST00000592793.6:n.3001-4A>G
ENST00000650085.1:n.1683-2A>G
ENST00000682020.1:c.269-2A>G	ENSP00000508075.1:n.269-2A>G
ENST00000682206.1:c.863-2A>G	ENSP00000508285.1:n.863-2A>G
ENST00000682314.1:n.907-2A>G
ENST00000682327.1:c.373+184A>G	ENSP00000507058.1:n.373+184A>G
ENST00000682349.1:n.3001-2A>G
ENST00000682703.1:n.3184A>G
ENST00000682797.1:c.863-2A>G	ENSP00000507582.1:n.863-2A>G
ENST00000682985.1:c.374-2A>G	ENSP00000507598.1:n.374-2A>G
ENST00000683433.1:c.157+184A>G	ENSP00000507463.1:n.157+184A>G
ENST00000683685.1:n.1090A>G
ENST00000683710.1:c.*826-2A>G	ENSP00000506785.1:n.*826-2A>G
ENST00000683739.1:c.530-2A>G	ENSP00000507002.1:n.530-2A>G
ENST00000683772.1:n.907-2A>G
ENST00000684008.1:c.797-2A>G	ENSP00000507962.1:n.797-2A>G
ENST00000684190.1:c.862+184A>G	ENSP00000507554.1:n.862+184A>G
ENST00000684335.1:c.863-2A>G	ENSP00000508112.1:n.863-2A>G
XM_011522565.1:c.530-2A>G	XP_011520867.1:n.530-2A>G
XM_017023457.2:c.862+184A>G	XP_016878946.1:n.862+184A>G
XM_017023458.1:c.530-2A>G	XP_016878947.1:n.530-2A>G
XR_932882.1:n.904-2A>G
XR_932882.3:n.888-2A>G