Canonical Allele Identifier: CA274226
Gene: AGL HGNC NCBI

Linked Data

ClinVar Variation Id: 188994
dbSNP Id: rs370792293

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.99864592A>G , CM000663.2:g.99864592A>G GRCh38
NC_000001.10:g.100330148A>G , CM000663.1:g.100330148A>G GRCh37
NC_000001.9:g.100102736A>G NCBI36
NG_012865.1:g.19509A>G

Transcript Alleles

HGVS Amino-acid change
ENST00000361915.8:c.664+3A>G MANE Select ENSP00000355106.3:p.=
ENST00000637337.1:n.875+3A>G
ENST00000294724.8:c.664+3A>G ENSP00000294724.4:p.=
ENST00000361302.7:c.616+3A>G ENSP00000354971.3:p.=
ENST00000361522.4:c.613+3A>G ENSP00000354635.4:p.=
ENST00000361915.7:c.664+3A>G ENSP00000355106.3:p.=
ENST00000370161.6:n.616+3A>G ENSP00000359180.2:p.=
ENST00000370163.7:c.664+3A>G ENSP00000359182.3:p.=
ENST00000370165.7:c.664+3A>G ENSP00000359184.3:p.=
NM_000028.2:c.664+3A>G NP_000019.2:p.=
NM_000642.2:c.664+3A>G NP_000633.2:p.=
NM_000643.2:c.664+3A>G NP_000634.2:p.=
NM_000644.2:c.664+3A>G NP_000635.2:p.=
NM_000645.2:c.613+3A>G NP_000636.2:p.=
NM_000646.2:c.616+3A>G NP_000637.2:p.=
XM_005270557.1:c.664+3A>G XP_005270614.1:p.=
XM_005270557.2:c.664+3A>G XP_005270614.1:p.=
NM_000642.3:c.664+3A>G MANE Select NP_000633.2:p.=