Canonical Allele Identifier: CA341334688
Community Standard Title: NM_000642.3(AGL):c.3637C>T (p.Gln1213Ter)
Gene: AGL HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.99902731C>T , CM000663.2:g.99902731C>T GRCh38
NC_000001.10:g.100368287C>T , CM000663.1:g.100368287C>T GRCh37
NC_000001.9:g.100140875C>T NCBI36
NG_012865.1:g.57648C>T

Transcript Alleles

HGVS Amino-acid Change
NM_000642.3:c.3637C>T MANE Select NP_000633.2:p.Gln1213Ter
ENST00000361915.8:c.3637C>T MANE Select ENSP00000355106.3:p.Gln1213Ter
NM_000028.2:c.3637C>T NP_000019.2:p.Gln1213Ter
NM_000642.2:c.3637C>T NP_000633.2:p.Gln1213Ter
NM_000643.2:c.3637C>T NP_000634.2:p.Gln1213Ter
NM_000644.2:c.3637C>T NP_000635.2:p.Gln1213Ter
NM_000645.2:c.3586C>T NP_000636.2:p.Gln1196Ter
NM_000646.2:c.3589C>T NP_000637.2:p.Gln1197Ter
ENST00000294724.8:c.3637C>T ENSP00000294724.4:p.Gln1213Ter
ENST00000361302.7:c.3589C>T ENSP00000354971.3:p.Gln1197Ter
ENST00000361522.4:c.3586C>T ENSP00000354635.4:p.Gln1196Ter
ENST00000361915.7:c.3637C>T ENSP00000355106.3:p.Gln1213Ter
ENST00000370161.6:c.3589C>T ENSP00000359180.2:p.Gln1197Ter
ENST00000370163.7:c.3637C>T ENSP00000359182.3:p.Gln1213Ter
ENST00000370165.7:c.3637C>T ENSP00000359184.3:p.Gln1213Ter
ENST00000637337.1:n.3848C>T
XM_005270557.1:c.3637C>T XP_005270614.1:p.Gln1213Ter
XM_005270557.2:c.3637C>T XP_005270614.1:p.Gln1213Ter
XM_017000501.2:c.1897C>T XP_016855990.1:p.Gln633Ter