Canonical Allele Identifier: CA341323924

Gene: AGL

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.99851126T>G , CM000663.2:g.99851126T>G	GRCh38
NC_000001.10:g.100316682T>G , CM000663.1:g.100316682T>G	GRCh37
NC_000001.9:g.100089270T>G	NCBI36
NG_012865.1:g.6043T>G

Transcript Alleles

HGVS	Amino-acid Change
NM_000642.3:c.82+2T>G MANE Select	NP_000633.2:n.82+2T>G
ENST00000361915.8:c.82+2T>G MANE Select	ENSP00000355106.3:n.82+2T>G
NM_000028.2:c.82+2T>G	NP_000019.2:n.82+2T>G
NM_000642.2:c.82+2T>G	NP_000633.2:n.82+2T>G
NM_000643.2:c.82+2T>G	NP_000634.2:n.82+2T>G
NM_000644.2:c.82+2T>G	NP_000635.2:n.82+2T>G
NM_000646.2:c.-110+2T>G	NP_000637.2:n.-110+2T>G
ENST00000294724.8:c.82+2T>G	ENSP00000294724.4:n.82+2T>G
ENST00000361302.7:c.-110+2T>G	ENSP00000354971.3:n.-110+2T>G
ENST00000361915.7:c.82+2T>G	ENSP00000355106.3:n.82+2T>G
ENST00000370163.7:c.82+2T>G	ENSP00000359182.3:n.82+2T>G
ENST00000370165.7:c.82+2T>G	ENSP00000359184.3:n.82+2T>G
XM_005270557.1:c.82+2T>G	XP_005270614.1:n.82+2T>G
XM_005270557.2:c.82+2T>G	XP_005270614.1:n.82+2T>G