Canonical Allele Identifier: CA2631591014

Gene: ALG1

Linked Data

• gnomAD v4: 16-5080867-G-C

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.5080867G>C , CM000678.2:g.5080867G>C	GRCh38
NC_000016.9:g.5130868G>C , CM000678.1:g.5130868G>C	GRCh37
NC_000016.8:g.5070869G>C	NCBI36
NG_009202.1:g.14059G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000592793.6:n.3098-79G>C
ENST00000682020.1:c.368-79G>C	ENSP00000508075.1:n.368-79G>C
ENST00000682206.1:c.*54-79G>C	ENSP00000508285.1:n.*54-79G>C
ENST00000682314.1:n.1010-79G>C
ENST00000682327.1:c.434-79G>C	ENSP00000507058.1:n.434-79G>C
ENST00000682349.1:n.3104-79G>C
ENST00000682703.1:n.3930-79G>C
ENST00000682797.1:c.*54-79G>C	ENSP00000507582.1:n.*54-79G>C
ENST00000682985.1:c.473-79G>C	ENSP00000507598.1:n.473-79G>C
ENST00000683433.1:c.218-79G>C	ENSP00000507463.1:n.218-79G>C
ENST00000683685.1:n.1836-79G>C
ENST00000683710.1:c.*929-79G>C	ENSP00000506785.1:n.*929-79G>C
ENST00000683739.1:c.629-79G>C	ENSP00000507002.1:n.629-79G>C
ENST00000683772.1:n.1006-79G>C
ENST00000684008.1:c.900-79G>C	ENSP00000507962.1:n.900-79G>C
ENST00000684190.1:c.923-79G>C	ENSP00000507554.1:n.923-79G>C
ENST00000684335.1:c.961+1060G>C	ENSP00000508112.1:n.961+1060G>C
ENST00000262374.10:c.962-79G>C MANE Select	ENSP00000262374.5:n.962-79G>C
ENST00000650085.1:n.1786-79G>C
ENST00000262374.9:c.962-79G>C	ENSP00000262374.4:n.962-79G>C
ENST00000544428.1:c.629-79G>C	ENSP00000440019.1:n.629-79G>C
ENST00000588623.5:c.629-79G>C	ENSP00000468118.1:n.629-79G>C
ENST00000591822.5:c.*863-79G>C	ENSP00000467865.1:n.*863-79G>C
NM_019109.4:c.962-79G>C	NP_061982.3:n.962-79G>C
XM_011522565.1:c.629-79G>C	XP_011520867.1:n.629-79G>C
XR_932882.1:n.1007-79G>C
NM_001330504.1:c.629-79G>C	NP_001317433.1:n.629-79G>C
XM_017023457.2:c.923-79G>C	XP_016878946.1:n.923-79G>C
XM_017023458.1:c.629-79G>C	XP_016878947.1:n.629-79G>C
XR_932882.3:n.991-79G>C
NM_019109.5:c.962-79G>C MANE Select	NP_061982.3:n.962-79G>C
NM_001330504.2:c.629-79G>C	NP_001317433.1:n.629-79G>C