Canonical Allele Identifier: CA721323896
Gene: ALG1 HGNC NCBI

Linked Data

dbSNP Id: rs1320870647
gnomAD v3: 16-5080754-G-A
gnomAD v4: 16-5080754-G-A

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.5080754G>A , CM000678.2:g.5080754G>A GRCh38
NC_000016.9:g.5130755G>A , CM000678.1:g.5130755G>A GRCh37
NC_000016.8:g.5070756G>A NCBI36
NG_009202.1:g.13946G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000592793.6:n.3098-192G>A
ENST00000682020.1:c.368-192G>A ENSP00000508075.1:n.368-192G>A
ENST00000682206.1:c.*54-192G>A ENSP00000508285.1:n.*54-192G>A
ENST00000682314.1:n.1010-192G>A
ENST00000682327.1:c.434-192G>A ENSP00000507058.1:n.434-192G>A
ENST00000682349.1:n.3104-192G>A
ENST00000682703.1:n.3930-192G>A
ENST00000682797.1:c.*54-192G>A ENSP00000507582.1:n.*54-192G>A
ENST00000682985.1:c.473-192G>A ENSP00000507598.1:n.473-192G>A
ENST00000683433.1:c.218-192G>A ENSP00000507463.1:n.218-192G>A
ENST00000683685.1:n.1836-192G>A
ENST00000683710.1:c.*929-192G>A ENSP00000506785.1:n.*929-192G>A
ENST00000683739.1:c.629-192G>A ENSP00000507002.1:n.629-192G>A
ENST00000683772.1:n.1006-192G>A
ENST00000684008.1:c.900-192G>A ENSP00000507962.1:n.900-192G>A
ENST00000684190.1:c.923-192G>A ENSP00000507554.1:n.923-192G>A
ENST00000684335.1:c.961+947G>A ENSP00000508112.1:n.961+947G>A
ENST00000262374.10:c.962-192G>A MANE Select ENSP00000262374.5:n.962-192G>A
ENST00000650085.1:n.1786-192G>A
ENST00000262374.9:c.962-192G>A ENSP00000262374.4:n.962-192G>A
ENST00000544428.1:c.629-192G>A ENSP00000440019.1:n.629-192G>A
ENST00000588623.5:c.629-192G>A ENSP00000468118.1:n.629-192G>A
ENST00000591822.5:c.*863-192G>A ENSP00000467865.1:n.*863-192G>A
NM_019109.4:c.962-192G>A NP_061982.3:n.962-192G>A
XM_011522565.1:c.629-192G>A XP_011520867.1:n.629-192G>A
XR_932882.1:n.1007-192G>A
NM_001330504.1:c.629-192G>A NP_001317433.1:n.629-192G>A
XM_017023457.2:c.923-192G>A XP_016878946.1:n.923-192G>A
XM_017023458.1:c.629-192G>A XP_016878947.1:n.629-192G>A
XR_932882.3:n.991-192G>A
NM_019109.5:c.962-192G>A MANE Select NP_061982.3:n.962-192G>A
NM_001330504.2:c.629-192G>A NP_001317433.1:n.629-192G>A