Canonical Allele Identifier: CA974051352

Gene: ALG1

Linked Data

• gnomAD v3: 16-5081097-A-C
• gnomAD v4: 16-5081097-A-C

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.5081097A>C , CM000678.2:g.5081097A>C	GRCh38
NC_000016.9:g.5131098A>C , CM000678.1:g.5131098A>C	GRCh37
NC_000016.8:g.5071099A>C	NCBI36
NG_009202.1:g.14289A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000592793.6:n.3208+41A>C
ENST00000682020.1:c.478+41A>C	ENSP00000508075.1:n.478+41A>C
ENST00000682206.1:c.*164+41A>C	ENSP00000508285.1:n.*164+41A>C
ENST00000682314.1:n.1120+41A>C
ENST00000682327.1:c.544+41A>C	ENSP00000507058.1:n.544+41A>C
ENST00000682349.1:n.3214+41A>C
ENST00000682703.1:n.4040+41A>C
ENST00000682797.1:c.*164+41A>C	ENSP00000507582.1:n.*164+41A>C
ENST00000682985.1:c.583+41A>C	ENSP00000507598.1:n.583+41A>C
ENST00000683433.1:c.328+41A>C	ENSP00000507463.1:n.328+41A>C
ENST00000683685.1:n.1946+41A>C
ENST00000683710.1:c.*1039+41A>C	ENSP00000506785.1:n.*1039+41A>C
ENST00000683739.1:c.739+41A>C	ENSP00000507002.1:n.739+41A>C
ENST00000683772.1:n.1116+41A>C
ENST00000684008.1:c.1010+41A>C	ENSP00000507962.1:n.1010+41A>C
ENST00000684190.1:c.1033+41A>C	ENSP00000507554.1:n.1033+41A>C
ENST00000684335.1:c.961+1290A>C	ENSP00000508112.1:n.961+1290A>C
ENST00000262374.10:c.1072+41A>C MANE Select	ENSP00000262374.5:n.1072+41A>C
ENST00000650085.1:n.1896+41A>C
ENST00000262374.9:c.1072+41A>C	ENSP00000262374.4:n.1072+41A>C
ENST00000544428.1:c.739+41A>C	ENSP00000440019.1:n.739+41A>C
ENST00000588623.5:c.739+41A>C	ENSP00000468118.1:n.739+41A>C
ENST00000591822.5:c.*973+41A>C	ENSP00000467865.1:n.*973+41A>C
NM_019109.4:c.1072+41A>C	NP_061982.3:n.1072+41A>C
XM_011522565.1:c.739+41A>C	XP_011520867.1:n.739+41A>C
NM_001330504.1:c.739+41A>C	NP_001317433.1:n.739+41A>C
XM_017023457.2:c.1033+41A>C	XP_016878946.1:n.1033+41A>C
XM_017023458.1:c.739+41A>C	XP_016878947.1:n.739+41A>C
XR_932882.3:n.1101+41A>C
NM_019109.5:c.1072+41A>C MANE Select	NP_061982.3:n.1072+41A>C
NM_001330504.2:c.739+41A>C	NP_001317433.1:n.739+41A>C