Canonical Allele Identifier: CA394674781

Gene: ALG1

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.5083759T>C , CM000678.2:g.5083759T>C	GRCh38
NC_000016.9:g.5133760T>C , CM000678.1:g.5133760T>C	GRCh37
NC_000016.8:g.5073761T>C	NCBI36
NG_009202.1:g.16951T>C

Transcript Alleles

HGVS	Amino-acid Change
NM_019109.5:c.1263+2T>C MANE Select	NP_061982.3:n.1263+2T>C
ENST00000262374.10:c.1263+2T>C MANE Select	ENSP00000262374.5:n.1263+2T>C
NM_001330504.1:c.930+2T>C	NP_001317433.1:n.930+2T>C
NM_001330504.2:c.930+2T>C	NP_001317433.1:n.930+2T>C
NM_019109.4:c.1263+2T>C	NP_061982.3:n.1263+2T>C
ENST00000262374.9:c.1263+2T>C	ENSP00000262374.4:n.1263+2T>C
ENST00000544428.1:c.930+2T>C	ENSP00000440019.1:n.930+2T>C
ENST00000588623.5:c.930+2T>C	ENSP00000468118.1:n.930+2T>C
ENST00000591822.5:c.*1164+2T>C	ENSP00000467865.1:n.*1164+2T>C
ENST00000592793.6:n.3399+2T>C
ENST00000650085.1:n.2087+2T>C
ENST00000682020.1:c.669+2T>C	ENSP00000508075.1:n.669+2T>C
ENST00000682206.1:c.*358+2T>C	ENSP00000508285.1:n.*358+2T>C
ENST00000682314.1:n.2319+2T>C
ENST00000682327.1:c.735+2T>C	ENSP00000507058.1:n.735+2T>C
ENST00000682349.1:n.3405+2T>C
ENST00000682703.1:n.5239+2T>C
ENST00000682797.1:c.*355+2T>C	ENSP00000507582.1:n.*355+2T>C
ENST00000682985.1:c.774+2T>C	ENSP00000507598.1:n.774+2T>C
ENST00000683433.1:c.522+2T>C	ENSP00000507463.1:n.522+2T>C
ENST00000683685.1:n.3145+2T>C
ENST00000683710.1:c.*1230+2T>C	ENSP00000506785.1:n.*1230+2T>C
ENST00000683739.1:c.930+2T>C	ENSP00000507002.1:n.930+2T>C
ENST00000683772.1:n.2315+2T>C
ENST00000684008.1:c.1201+2T>C	ENSP00000507962.1:n.1201+2T>C
ENST00000684190.1:c.1224+2T>C	ENSP00000507554.1:n.1224+2T>C
ENST00000684335.1:c.1152+2T>C	ENSP00000508112.1:n.1152+2T>C
XM_011522565.1:c.930+2T>C	XP_011520867.1:n.930+2T>C
XM_017023457.2:c.1224+2T>C	XP_016878946.1:n.1224+2T>C
XM_017023458.1:c.930+2T>C	XP_016878947.1:n.930+2T>C
XR_932882.3:n.1292+2T>C