Canonical Allele Identifier: CA27527921
Community Standard Title: NM_000642.3(AGL):c.3179C>G (p.Ser1060Ter)
Gene: AGL HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.99892527C>G , CM000663.2:g.99892527C>G GRCh38
NC_000001.10:g.100358083C>G , CM000663.1:g.100358083C>G GRCh37
NC_000001.9:g.100130671C>G NCBI36
NG_012865.1:g.47444C>G

Transcript Alleles

HGVS Amino-acid Change
NM_000642.3:c.3179C>G MANE Select NP_000633.2:p.Ser1060Ter
ENST00000361915.8:c.3179C>G MANE Select ENSP00000355106.3:p.Ser1060Ter
NM_000028.2:c.3179C>G NP_000019.2:p.Ser1060Ter
NM_000642.2:c.3179C>G NP_000633.2:p.Ser1060Ter
NM_000643.2:c.3179C>G NP_000634.2:p.Ser1060Ter
NM_000644.2:c.3179C>G NP_000635.2:p.Ser1060Ter
NM_000645.2:c.3128C>G NP_000636.2:p.Ser1043Ter
NM_000646.2:c.3131C>G NP_000637.2:p.Ser1044Ter
ENST00000294724.8:c.3179C>G ENSP00000294724.4:p.Ser1060Ter
ENST00000361302.7:c.3131C>G ENSP00000354971.3:p.Ser1044Ter
ENST00000361522.4:c.3128C>G ENSP00000354635.4:p.Ser1043Ter
ENST00000361915.7:c.3179C>G ENSP00000355106.3:p.Ser1060Ter
ENST00000370161.6:c.3131C>G ENSP00000359180.2:p.Ser1044Ter
ENST00000370163.7:c.3179C>G ENSP00000359182.3:p.Ser1060Ter
ENST00000370165.7:c.3179C>G ENSP00000359184.3:p.Ser1060Ter
ENST00000637337.1:n.3390C>G
XM_005270557.1:c.3179C>G XP_005270614.1:p.Ser1060Ter
XM_005270557.2:c.3179C>G XP_005270614.1:p.Ser1060Ter
XM_017000501.2:c.1439C>G XP_016855990.1:p.Ser480Ter