Canonical Allele Identifier: CA277163876
Gene: ALG1 HGNC NCBI

Linked Data

dbSNP Id: rs554609922
gnomAD v3: 16-5080790-T-G
gnomAD v4: 16-5080790-T-G

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.5080790T>G , CM000678.2:g.5080790T>G GRCh38
NC_000016.9:g.5130791T>G , CM000678.1:g.5130791T>G GRCh37
NC_000016.8:g.5070792T>G NCBI36
NG_009202.1:g.13982T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000592793.6:n.3098-156T>G
ENST00000682020.1:c.368-156T>G ENSP00000508075.1:n.368-156T>G
ENST00000682206.1:c.*54-156T>G ENSP00000508285.1:n.*54-156T>G
ENST00000682314.1:n.1010-156T>G
ENST00000682327.1:c.434-156T>G ENSP00000507058.1:n.434-156T>G
ENST00000682349.1:n.3104-156T>G
ENST00000682703.1:n.3930-156T>G
ENST00000682797.1:c.*54-156T>G ENSP00000507582.1:n.*54-156T>G
ENST00000682985.1:c.473-156T>G ENSP00000507598.1:n.473-156T>G
ENST00000683433.1:c.218-156T>G ENSP00000507463.1:n.218-156T>G
ENST00000683685.1:n.1836-156T>G
ENST00000683710.1:c.*929-156T>G ENSP00000506785.1:n.*929-156T>G
ENST00000683739.1:c.629-156T>G ENSP00000507002.1:n.629-156T>G
ENST00000683772.1:n.1006-156T>G
ENST00000684008.1:c.900-156T>G ENSP00000507962.1:n.900-156T>G
ENST00000684190.1:c.923-156T>G ENSP00000507554.1:n.923-156T>G
ENST00000684335.1:c.961+983T>G ENSP00000508112.1:n.961+983T>G
ENST00000262374.10:c.962-156T>G MANE Select ENSP00000262374.5:n.962-156T>G
ENST00000650085.1:n.1786-156T>G
ENST00000262374.9:c.962-156T>G ENSP00000262374.4:n.962-156T>G
ENST00000544428.1:c.629-156T>G ENSP00000440019.1:n.629-156T>G
ENST00000588623.5:c.629-156T>G ENSP00000468118.1:n.629-156T>G
ENST00000591822.5:c.*863-156T>G ENSP00000467865.1:n.*863-156T>G
NM_019109.4:c.962-156T>G NP_061982.3:n.962-156T>G
XM_011522565.1:c.629-156T>G XP_011520867.1:n.629-156T>G
XR_932882.1:n.1007-156T>G
NM_001330504.1:c.629-156T>G NP_001317433.1:n.629-156T>G
XM_017023457.2:c.923-156T>G XP_016878946.1:n.923-156T>G
XM_017023458.1:c.629-156T>G XP_016878947.1:n.629-156T>G
XR_932882.3:n.991-156T>G
NM_019109.5:c.962-156T>G MANE Select NP_061982.3:n.962-156T>G
NM_001330504.2:c.629-156T>G NP_001317433.1:n.629-156T>G