Canonical Allele Identifier: CA967000

Gene: AGL

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.99892562G>T , CM000663.2:g.99892562G>T	GRCh38
NC_000001.10:g.100358118G>T , CM000663.1:g.100358118G>T	GRCh37
NC_000001.9:g.100130706G>T	NCBI36
NG_012865.1:g.47479G>T

Transcript Alleles

HGVS	Amino-acid Change
NM_000642.3:c.3214G>T MANE Select	NP_000633.2:p.Glu1072Ter
ENST00000361915.8:c.3214G>T MANE Select	ENSP00000355106.3:p.Glu1072Ter
NM_000028.2:c.3214G>T	NP_000019.2:p.Glu1072Ter
NM_000642.2:c.3214G>T	NP_000633.2:p.Glu1072Ter
NM_000643.2:c.3214G>T	NP_000634.2:p.Glu1072Ter
NM_000644.2:c.3214G>T	NP_000635.2:p.Glu1072Ter
NM_000645.2:c.3163G>T	NP_000636.2:p.Glu1055Ter
NM_000646.2:c.3166G>T	NP_000637.2:p.Glu1056Ter
ENST00000294724.8:c.3214G>T	ENSP00000294724.4:p.Glu1072Ter
ENST00000361302.7:c.3166G>T	ENSP00000354971.3:p.Glu1056Ter
ENST00000361522.4:c.3163G>T	ENSP00000354635.4:p.Glu1055Ter
ENST00000361915.7:c.3214G>T	ENSP00000355106.3:p.Glu1072Ter
ENST00000370161.6:c.3166G>T	ENSP00000359180.2:p.Glu1056Ter
ENST00000370163.7:c.3214G>T	ENSP00000359182.3:p.Glu1072Ter
ENST00000370165.7:c.3214G>T	ENSP00000359184.3:p.Glu1072Ter
ENST00000637337.1:n.3425G>T
XM_005270557.1:c.3214G>T	XP_005270614.1:p.Glu1072Ter
XM_005270557.2:c.3214G>T	XP_005270614.1:p.Glu1072Ter
XM_017000501.2:c.1474G>T	XP_016855990.1:p.Glu492Ter