Canonical Allele Identifier: CA2573154970
Gene: GAA HGNC NCBI

Linked Data

ClinVar Variation Id: 1659354
ClinVar RCV Id: RCV002178457
dbSNP Id: rs202211401
gnomAD v4: 17-80110718-G-T
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.80110718G>T , CM000679.2:g.80110718G>T GRCh38
NC_000017.10:g.78084517G>T , CM000679.1:g.78084517G>T GRCh37
NC_000017.9:g.75699112G>T NCBI36
NG_009822.1:g.14163G>T , LRG_673:g.14163G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000570803.6:c.1438-9G>T ENSP00000460543.2:n.1438-9G>T
ENST00000572080.2:c.1438-9G>T ENSP00000459972.2:n.1438-9G>T
ENST00000577106.6:c.1438-9G>T ENSP00000458306.2:n.1438-9G>T
ENST00000302262.8:c.1438-9G>T MANE Select ENSP00000305692.3:n.1438-9G>T
ENST00000302262.7:c.1438-9G>T ENSP00000305692.3:n.1438-9G>T
ENST00000390015.7:c.1438-9G>T ENSP00000374665.3:n.1438-9G>T
NM_000152.3:c.1438-9G>T , LRG_673t1:c.1438-9G>T NP_000143.2:n.1438-9G>T
NM_001079803.1:c.1438-9G>T NP_001073271.1:n.1438-9G>T
NM_001079804.1:c.1438-9G>T NP_001073272.1:n.1438-9G>T
XM_005257193.1:c.1438-9G>T XP_005257250.1:n.1438-9G>T
XM_005257194.3:c.1438-9G>T XP_005257251.1:n.1438-9G>T
NM_000152.4:c.1438-9G>T NP_000143.2:n.1438-9G>T
NM_001079803.2:c.1438-9G>T NP_001073271.1:n.1438-9G>T
NM_001079804.2:c.1438-9G>T NP_001073272.1:n.1438-9G>T
XM_005257193.2:c.1438-9G>T XP_005257250.1:n.1438-9G>T
XM_005257194.4:c.1438-9G>T XP_005257251.1:n.1438-9G>T
NM_000152.5:c.1438-9G>T MANE Select NP_000143.2:n.1438-9G>T
NM_001079803.3:c.1438-9G>T NP_001073271.1:n.1438-9G>T
NM_001079804.3:c.1438-9G>T NP_001073272.1:n.1438-9G>T
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