Canonical Allele Identifier: CA238949

Gene: ALG1

Linked Data

• ClinVar Variation Id: 193420
• ClinVar RCV Id: RCV000173490 ; RCV002054050
• dbSNP Id: rs794726945
• gnomAD v2: 16-5122071-G-A
• gnomAD v4: 16-5072070-G-A
• MyVariant Identifiers: chr16:g.5122071G>A (hg19) ; chr16:g.5072070G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.5072070G>A , CM000678.2:g.5072070G>A	GRCh38
NC_000016.9:g.5122071G>A , CM000678.1:g.5122071G>A	GRCh37
NC_000016.8:g.5062072G>A	NCBI36
NG_009202.1:g.5262G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000592793.6:n.215+13G>A
ENST00000682020.1:c.-55-5375G>A	ENSP00000508075.1:n.-55-5375G>A
ENST00000682206.1:c.208+13G>A	ENSP00000508285.1:n.208+13G>A
ENST00000682314.1:n.252+13G>A
ENST00000682327.1:c.-99-3318G>A	ENSP00000507058.1:n.-99-3318G>A
ENST00000682349.1:n.215+13G>A
ENST00000682703.1:n.215+13G>A
ENST00000682797.1:c.208+13G>A	ENSP00000507582.1:n.208+13G>A
ENST00000682985.1:c.-99-3318G>A	ENSP00000507598.1:n.-99-3318G>A
ENST00000683433.1:c.-55-5375G>A	ENSP00000507463.1:n.-55-5375G>A
ENST00000683685.1:n.252+13G>A
ENST00000683710.1:c.208+13G>A	ENSP00000506785.1:n.208+13G>A
ENST00000683772.1:n.252+13G>A
ENST00000684008.1:c.142+79G>A	ENSP00000507962.1:n.142+79G>A
ENST00000684190.1:c.208+13G>A	ENSP00000507554.1:n.208+13G>A
ENST00000684335.1:c.208+13G>A	ENSP00000508112.1:n.208+13G>A
ENST00000262374.10:c.208+13G>A MANE Select	ENSP00000262374.5:n.208+13G>A
ENST00000650085.1:n.1013-881G>A
ENST00000262374.9:c.208+13G>A	ENSP00000262374.4:n.208+13G>A
ENST00000586840.1:c.208+13G>A	ENSP00000467538.1:n.208+13G>A
ENST00000588623.5:c.-125-881G>A	ENSP00000468118.1:n.-125-881G>A
ENST00000591822.5:c.221G>A	ENSP00000467865.1:p.Arg74Lys
ENST00000592793.5:n.215+13G>A
NM_019109.4:c.208+13G>A	NP_061982.3:n.208+13G>A
XR_932882.1:n.249+13G>A
XM_017023457.2:c.208+13G>A	XP_016878946.1:n.208+13G>A
XM_017023458.1:c.-269G>A	XP_016878947.1:n.-269G>A
XR_932882.3:n.233+13G>A
NM_019109.5:c.208+13G>A MANE Select	NP_061982.3:n.208+13G>A