Canonical Allele Identifier: CA966405
Gene: AGL HGNC NCBI

Linked Data

dbSNP Id: rs749678945
gnomAD v3: 1-99875253-A-C
gnomAD v4: 1-99875253-A-C

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.99875253A>C , CM000663.2:g.99875253A>C GRCh38
NC_000001.10:g.100340809A>C , CM000663.1:g.100340809A>C GRCh37
NC_000001.9:g.100113397A>C NCBI36
NG_012865.1:g.30170A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000361915.8:c.1182A>C MANE Select ENSP00000355106.3:p.Glu394Asp
ENST00000637337.1:n.1393A>C
ENST00000294724.8:c.1182A>C ENSP00000294724.4:p.Glu394Asp
ENST00000361302.7:c.1134A>C ENSP00000354971.3:p.Glu378Asp
ENST00000361522.4:c.1131A>C ENSP00000354635.4:p.Glu377Asp
ENST00000361915.7:c.1182A>C ENSP00000355106.3:p.Glu394Asp
ENST00000370161.6:c.1134A>C ENSP00000359180.2:p.Glu378Asp
ENST00000370163.7:c.1182A>C ENSP00000359182.3:p.Glu394Asp
ENST00000370165.7:c.1182A>C ENSP00000359184.3:p.Glu394Asp
ENST00000477753.1:n.441A>C
NM_000028.2:c.1182A>C NP_000019.2:p.Glu394Asp
NM_000642.2:c.1182A>C NP_000633.2:p.Glu394Asp
NM_000643.2:c.1182A>C NP_000634.2:p.Glu394Asp
NM_000644.2:c.1182A>C NP_000635.2:p.Glu394Asp
NM_000645.2:c.1131A>C NP_000636.2:p.Glu377Asp
NM_000646.2:c.1134A>C NP_000637.2:p.Glu378Asp
XM_005270557.1:c.1182A>C XP_005270614.1:p.Glu394Asp
XM_005270557.2:c.1182A>C XP_005270614.1:p.Glu394Asp
NM_000642.3:c.1182A>C MANE Select NP_000633.2:p.Glu394Asp