Canonical Allele Identifier: CA16040823
Gene: AGL HGNC NCBI

Linked Data

ClinVar Variation Id: 370920
dbSNP Id: rs1057516868
gnomAD v3: 1-99862255-A-T
gnomAD v4: 1-99862255-A-T

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.99862255A>T , CM000663.2:g.99862255A>T GRCh38
NC_000001.10:g.100327811A>T , CM000663.1:g.100327811A>T GRCh37
NC_000001.9:g.100100399A>T NCBI36
NG_012865.1:g.17172A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000361915.8:c.294-2A>T MANE Select ENSP00000355106.3:n.294-2A>T
ENST00000637337.1:n.505-2A>T
ENST00000294724.8:c.294-2A>T ENSP00000294724.4:n.294-2A>T
ENST00000361302.7:c.246-2A>T ENSP00000354971.3:n.246-2A>T
ENST00000361522.4:c.243-2A>T ENSP00000354635.4:n.243-2A>T
ENST00000361915.7:c.294-2A>T ENSP00000355106.3:n.294-2A>T
ENST00000370161.6:c.246-2A>T ENSP00000359180.2:n.246-2A>T
ENST00000370163.7:c.294-2A>T ENSP00000359182.3:n.294-2A>T
ENST00000370165.7:c.294-2A>T ENSP00000359184.3:n.294-2A>T
NM_000028.2:c.294-2A>T NP_000019.2:n.294-2A>T
NM_000642.2:c.294-2A>T NP_000633.2:n.294-2A>T
NM_000643.2:c.294-2A>T NP_000634.2:n.294-2A>T
NM_000644.2:c.294-2A>T NP_000635.2:n.294-2A>T
NM_000645.2:c.243-2A>T NP_000636.2:n.243-2A>T
NM_000646.2:c.246-2A>T NP_000637.2:n.246-2A>T
XM_005270557.1:c.294-2A>T XP_005270614.1:n.294-2A>T
XM_005270557.2:c.294-2A>T XP_005270614.1:n.294-2A>T
NM_000642.3:c.294-2A>T MANE Select NP_000633.2:n.294-2A>T