Canonical Allele Identifier: CA2646736015

Gene: AGL

Linked Data

• gnomAD v4: 1-99850913-C-A

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.99850913C>A , CM000663.2:g.99850913C>A	GRCh38
NC_000001.10:g.100316469C>A , CM000663.1:g.100316469C>A	GRCh37
NC_000001.9:g.100089057C>A	NCBI36
NG_012865.1:g.5830C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000361915.8:c.-68-62C>A MANE Select	ENSP00000355106.3:n.-68-62C>A
ENST00000294724.8:c.-69+15C>A	ENSP00000294724.4:n.-69+15C>A
ENST00000361915.7:c.-68-62C>A	ENSP00000355106.3:n.-68-62C>A
ENST00000370163.7:c.-68-62C>A	ENSP00000359182.3:n.-68-62C>A
ENST00000370165.7:c.-8-122C>A	ENSP00000359184.3:n.-8-122C>A
NM_000028.2:c.-69+15C>A	NP_000019.2:n.-69+15C>A
NM_000642.2:c.-68-62C>A	NP_000633.2:n.-68-62C>A
NM_000643.2:c.-68-62C>A	NP_000634.2:n.-68-62C>A
NM_000644.2:c.-8-122C>A	NP_000635.2:n.-8-122C>A
XM_005270557.1:c.-68-62C>A	XP_005270614.1:n.-68-62C>A
XM_005270557.2:c.-68-62C>A	XP_005270614.1:n.-68-62C>A
NM_000642.3:c.-68-62C>A MANE Select	NP_000633.2:n.-68-62C>A