Canonical Allele Identifier: CA974052199

Gene: ALG1

Linked Data

• dbSNP Id: rs1596261029
• gnomAD v3: 16-5082479-G-T
• gnomAD v4: 16-5082479-G-T

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.5082479G>T , CM000678.2:g.5082479G>T	GRCh38
NC_000016.9:g.5132480G>T , CM000678.1:g.5132480G>T	GRCh37
NC_000016.8:g.5072481G>T	NCBI36
NG_009202.1:g.15671G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000592793.6:n.3209-80G>T
ENST00000682020.1:c.479-80G>T	ENSP00000508075.1:n.479-80G>T
ENST00000682206.1:c.*165-77G>T	ENSP00000508285.1:n.*165-77G>T
ENST00000682314.1:n.1121-80G>T
ENST00000682327.1:c.545-80G>T	ENSP00000507058.1:n.545-80G>T
ENST00000682349.1:n.3215-80G>T
ENST00000682703.1:n.4041-80G>T
ENST00000682797.1:c.*165-80G>T	ENSP00000507582.1:n.*165-80G>T
ENST00000682985.1:c.584-80G>T	ENSP00000507598.1:n.584-80G>T
ENST00000683433.1:c.329-77G>T	ENSP00000507463.1:n.329-77G>T
ENST00000683685.1:n.1947-80G>T
ENST00000683710.1:c.*1040-80G>T	ENSP00000506785.1:n.*1040-80G>T
ENST00000683739.1:c.740-80G>T	ENSP00000507002.1:n.740-80G>T
ENST00000683772.1:n.1117-80G>T
ENST00000684008.1:c.1011-80G>T	ENSP00000507962.1:n.1011-80G>T
ENST00000684190.1:c.1034-80G>T	ENSP00000507554.1:n.1034-80G>T
ENST00000684335.1:c.962-80G>T	ENSP00000508112.1:n.962-80G>T
ENST00000262374.10:c.1073-80G>T MANE Select	ENSP00000262374.5:n.1073-80G>T
ENST00000650085.1:n.1897-80G>T
ENST00000262374.9:c.1073-80G>T	ENSP00000262374.4:n.1073-80G>T
ENST00000544428.1:c.740-80G>T	ENSP00000440019.1:n.740-80G>T
ENST00000588623.5:c.740-80G>T	ENSP00000468118.1:n.740-80G>T
ENST00000591822.5:c.*974-80G>T	ENSP00000467865.1:n.*974-80G>T
NM_019109.4:c.1073-80G>T	NP_061982.3:n.1073-80G>T
XM_011522565.1:c.740-80G>T	XP_011520867.1:n.740-80G>T
NM_001330504.1:c.740-80G>T	NP_001317433.1:n.740-80G>T
XM_017023457.2:c.1034-80G>T	XP_016878946.1:n.1034-80G>T
XM_017023458.1:c.740-80G>T	XP_016878947.1:n.740-80G>T
XR_932882.3:n.1102-80G>T
NM_019109.5:c.1073-80G>T MANE Select	NP_061982.3:n.1073-80G>T
NM_001330504.2:c.740-80G>T	NP_001317433.1:n.740-80G>T