Canonical Allele Identifier: CA114755
Gene: AGL HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 1096
dbSNP Id: rs113994129

User contributed link-outs

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.99881329G>A , CM000663.2:g.99881329G>A GRCh38
NC_000001.9:g.100119473G>A NCBI36
NC_000001.10:g.100346885G>A , CM000663.1:g.100346885G>A GRCh37
NG_012865.1:g.36246G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000294724.8:c.2039G>A ENSP00000294724.4:p.Trp680Ter
ENST00000361302.7:c.1991G>A ENSP00000354971.3:p.Trp664Ter
ENST00000361522.4:c.1988G>A ENSP00000354635.4:p.Trp663Ter
ENST00000361915.7:c.2039G>A ENSP00000355106.3:p.Trp680Ter
ENST00000370161.6:n.1991G>A ENSP00000359180.2:p.Trp664Ter
ENST00000370163.7:c.2039G>A ENSP00000359182.3:p.Trp680Ter
ENST00000370165.7:c.2039G>A ENSP00000359184.3:p.Trp680Ter
NM_000028.2:c.2039G>A VV NP_000019.2:p.Trp680Ter
NM_000642.2:c.2039G>A VV NP_000633.2:p.Trp680Ter
NM_000643.2:c.2039G>A VV NP_000634.2:p.Trp680Ter
NM_000644.2:c.2039G>A VV NP_000635.2:p.Trp680Ter
NM_000645.2:c.1988G>A VV NP_000636.2:p.Trp663Ter
NM_000646.2:c.1991G>A VV NP_000637.2:p.Trp664Ter
XM_005270557.1:c.2039G>A XP_005270614.1:p.Trp680Ter