Canonical Allele Identifier: CA10611770
Gene: AGL HGNC NCBI

Linked Data

ClinVar Variation Id: 291332
ClinVar RCV Id: RCV000375026
dbSNP Id: rs886044919
gnomAD v4: 1-99876500-A-G

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.99876500A>G , CM000663.2:g.99876500A>G GRCh38
NC_000001.10:g.100342056A>G , CM000663.1:g.100342056A>G GRCh37
NC_000001.9:g.100114644A>G NCBI36
NG_012865.1:g.31417A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000361915.8:c.1326A>G MANE Select ENSP00000355106.3:p.Glu442=
ENST00000637337.1:n.1537A>G
ENST00000294724.8:c.1326A>G ENSP00000294724.4:p.Glu442=
ENST00000361302.7:c.1278A>G ENSP00000354971.3:p.Glu426=
ENST00000361522.4:c.1275A>G ENSP00000354635.4:p.Glu425=
ENST00000361915.7:c.1326A>G ENSP00000355106.3:p.Glu442=
ENST00000370161.6:c.1278A>G ENSP00000359180.2:p.Glu426=
ENST00000370163.7:c.1326A>G ENSP00000359182.3:p.Glu442=
ENST00000370165.7:c.1326A>G ENSP00000359184.3:p.Glu442=
ENST00000477753.1:n.585A>G
NM_000028.2:c.1326A>G NP_000019.2:p.Glu442=
NM_000642.2:c.1326A>G NP_000633.2:p.Glu442=
NM_000643.2:c.1326A>G NP_000634.2:p.Glu442=
NM_000644.2:c.1326A>G NP_000635.2:p.Glu442=
NM_000645.2:c.1275A>G NP_000636.2:p.Glu425=
NM_000646.2:c.1278A>G NP_000637.2:p.Glu426=
XM_005270557.1:c.1326A>G XP_005270614.1:p.Glu442=
XM_005270557.2:c.1326A>G XP_005270614.1:p.Glu442=
NM_000642.3:c.1326A>G MANE Select NP_000633.2:p.Glu442=