Canonical Allele Identifier: CA2277815758
Gene: GAA HGNC NCBI
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.80113780A= , CM000679.2:g.80113780A= GRCh38
NC_000017.10:g.78087579A= , CM000679.1:g.78087579A= GRCh37
NC_000017.9:g.75702174A= NCBI36
NG_009822.1:g.17225A= , LRG_673:g.17225A=

Transcript Alleles

HGVS Amino-acid Change
ENST00000570803.6:c.2189+414A= ENSP00000460543.2:n.2189+414A=
ENST00000572080.2:c.*327+414A= ENSP00000459972.2:n.*327+414A=
ENST00000577106.6:c.2189+414A= ENSP00000458306.2:n.2189+414A=
ENST00000302262.8:c.2189+414A= MANE Select ENSP00000305692.3:n.2189+414A=
ENST00000302262.7:c.2189+414A= ENSP00000305692.3:n.2189+414A=
ENST00000390015.7:c.2189+414A= ENSP00000374665.3:n.2189+414A=
ENST00000572080.1:c.608+414A=
NM_000152.3:c.2189+414A= , LRG_673t1:c.2189+414A= NP_000143.2:n.2189+414A=
NM_001079803.1:c.2189+414A= NP_001073271.1:n.2189+414A=
NM_001079804.1:c.2189+414A= NP_001073272.1:n.2189+414A=
XM_005257193.1:c.2189+414A= XP_005257250.1:n.2189+414A=
XM_005257194.3:c.2189+414A= XP_005257251.1:n.2189+414A=
NM_000152.4:c.2189+414A= NP_000143.2:n.2189+414A=
NM_001079803.2:c.2189+414A= NP_001073271.1:n.2189+414A=
NM_001079804.2:c.2189+414A= NP_001073272.1:n.2189+414A=
XM_005257193.2:c.2189+414A= XP_005257250.1:n.2189+414A=
XM_005257194.4:c.2189+414A= XP_005257251.1:n.2189+414A=
NM_000152.5:c.2189+414A= MANE Select NP_000143.2:n.2189+414A=
NM_001079803.3:c.2189+414A= NP_001073271.1:n.2189+414A=
NM_001079804.3:c.2189+414A= NP_001073272.1:n.2189+414A=
Search 100 bp 5'
Search 100 bp 3'