Canonical Allele Identifier: CA2646736979

Gene: AGL

Linked Data

• gnomAD v4: 1-99875301-C-T

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.99875301C>T , CM000663.2:g.99875301C>T	GRCh38
NC_000001.10:g.100340857C>T , CM000663.1:g.100340857C>T	GRCh37
NC_000001.9:g.100113445C>T	NCBI36
NG_012865.1:g.30218C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000361915.8:c.1185+45C>T MANE Select	ENSP00000355106.3:n.1185+45C>T
ENST00000637337.1:n.1396+45C>T
ENST00000294724.8:c.1185+45C>T	ENSP00000294724.4:n.1185+45C>T
ENST00000361302.7:c.1137+45C>T	ENSP00000354971.3:n.1137+45C>T
ENST00000361522.4:c.1134+45C>T	ENSP00000354635.4:n.1134+45C>T
ENST00000361915.7:c.1185+45C>T	ENSP00000355106.3:n.1185+45C>T
ENST00000370161.6:c.1137+45C>T	ENSP00000359180.2:n.1137+45C>T
ENST00000370163.7:c.1185+45C>T	ENSP00000359182.3:n.1185+45C>T
ENST00000370165.7:c.1185+45C>T	ENSP00000359184.3:n.1185+45C>T
ENST00000477753.1:n.444+45C>T
NM_000028.2:c.1185+45C>T	NP_000019.2:n.1185+45C>T
NM_000642.2:c.1185+45C>T	NP_000633.2:n.1185+45C>T
NM_000643.2:c.1185+45C>T	NP_000634.2:n.1185+45C>T
NM_000644.2:c.1185+45C>T	NP_000635.2:n.1185+45C>T
NM_000645.2:c.1134+45C>T	NP_000636.2:n.1134+45C>T
NM_000646.2:c.1137+45C>T	NP_000637.2:n.1137+45C>T
XM_005270557.1:c.1185+45C>T	XP_005270614.1:n.1185+45C>T
XM_005270557.2:c.1185+45C>T	XP_005270614.1:n.1185+45C>T
NM_000642.3:c.1185+45C>T MANE Select	NP_000633.2:n.1185+45C>T