Canonical Allele Identifier: CA2631574275
Gene: ALG1 HGNC NCBI

Linked Data

gnomAD v4: 16-5078738-T-G

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.5078738T>G , CM000678.2:g.5078738T>G GRCh38
NC_000016.9:g.5128739T>G , CM000678.1:g.5128739T>G GRCh37
NC_000016.8:g.5068740T>G NCBI36
NG_009202.1:g.11930T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000592793.6:n.2879-19T>G
ENST00000682020.1:c.147-19T>G ENSP00000508075.1:n.147-19T>G
ENST00000682206.1:c.741-19T>G ENSP00000508285.1:n.741-19T>G
ENST00000682314.1:n.785-19T>G
ENST00000682327.1:c.252-19T>G ENSP00000507058.1:n.252-19T>G
ENST00000682349.1:n.2879-19T>G
ENST00000682703.1:n.2879-19T>G
ENST00000682797.1:c.741-19T>G ENSP00000507582.1:n.741-19T>G
ENST00000682985.1:c.252-19T>G ENSP00000507598.1:n.252-19T>G
ENST00000683433.1:c.36-19T>G ENSP00000507463.1:n.36-19T>G
ENST00000683685.1:n.785-19T>G
ENST00000683710.1:c.*704-19T>G ENSP00000506785.1:n.*704-19T>G
ENST00000683739.1:c.408-19T>G ENSP00000507002.1:n.408-19T>G
ENST00000683772.1:n.785-19T>G
ENST00000684008.1:c.675-19T>G ENSP00000507962.1:n.675-19T>G
ENST00000684190.1:c.741-19T>G ENSP00000507554.1:n.741-19T>G
ENST00000684335.1:c.741-19T>G ENSP00000508112.1:n.741-19T>G
ENST00000262374.10:c.741-19T>G MANE Select ENSP00000262374.5:n.741-19T>G
ENST00000650085.1:n.1561-19T>G
ENST00000262374.9:c.741-19T>G ENSP00000262374.4:n.741-19T>G
ENST00000544428.1:c.408-19T>G ENSP00000440019.1:n.408-19T>G
ENST00000588623.5:c.408-19T>G ENSP00000468118.1:n.408-19T>G
ENST00000591783.5:c.408-19T>G ENSP00000464700.1:n.408-19T>G
ENST00000591822.5:c.*642-19T>G ENSP00000467865.1:n.*642-19T>G
NM_019109.4:c.741-19T>G NP_061982.3:n.741-19T>G
XM_011522565.1:c.408-19T>G XP_011520867.1:n.408-19T>G
XR_932882.1:n.782-19T>G
NM_001330504.1:c.408-19T>G NP_001317433.1:n.408-19T>G
XM_017023457.2:c.741-19T>G XP_016878946.1:n.741-19T>G
XM_017023458.1:c.408-19T>G XP_016878947.1:n.408-19T>G
XR_932882.3:n.766-19T>G
NM_019109.5:c.741-19T>G MANE Select NP_061982.3:n.741-19T>G
NM_001330504.2:c.408-19T>G NP_001317433.1:n.408-19T>G