Canonical Allele Identifier: CA2277808990
Gene: GAA HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.80101588G= , CM000679.2:g.80101588G= GRCh38
NC_000017.10:g.78075387G= , CM000679.1:g.78075387G= GRCh37
NC_000017.9:g.75689982G= NCBI36
NG_009822.1:g.5033G= , LRG_673:g.5033G=
NG_029761.1:g.69957G=

Transcript Alleles

HGVS Amino-acid change
ENST00000570803.6:c.-70G= ENSP00000460543.2:n.-70G=
ENST00000572080.2:c.-150G= ENSP00000459972.2:n.-150G=
ENST00000577106.6:c.-185G= ENSP00000458306.2:n.-185G=
ENST00000302262.8:c.-335G= MANE Select ENSP00000305692.3:n.-335G=
ENST00000570803.5:c.-70G= ENSP00000460543.1:n.-70G=
ENST00000577106.5:c.-185G= ENSP00000458306.1:n.-185G=
NM_000152.3:c.-335G= , LRG_673t1:c.-335G= NP_000143.2:n.-335G=
NM_001079803.1:c.-150G= NP_001073271.1:n.-150G=
NM_001079804.1:c.-70G= NP_001073272.1:n.-70G=
XM_005257194.3:c.-185G= XP_005257251.1:n.-185G=
NM_000152.4:c.-335G= NP_000143.2:n.-335G=
NM_001079803.2:c.-150G= NP_001073271.1:n.-150G=
NM_001079804.2:c.-70G= NP_001073272.1:n.-70G=
NR_134848.1:n.63G=
XM_005257194.4:c.-185G= XP_005257251.1:n.-185G=
NM_000152.5:c.-335G= MANE Select NP_000143.2:n.-335G=
NM_001079803.3:c.-150G= NP_001073271.1:n.-150G=
NM_001079804.3:c.-70G= NP_001073272.1:n.-70G=
NR_134848.2:n.8G=