Canonical Allele Identifier: CA16041887
Gene: GAA HGNC NCBI

Linked Data

ClinVar Variation Id: 370173
ClinVar RCV Id: RCV000409982 RCV003137981
dbSNP Id: rs1057516290
MyVariant Identifiers: chr17:g.78082286A>G (hg19) chr17:g.80108487A>G (hg38)
PubMed: PMID:17027861
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.80108487A>G , CM000679.2:g.80108487A>G GRCh38
NC_000017.10:g.78082286A>G , CM000679.1:g.78082286A>G GRCh37
NC_000017.9:g.75696881A>G NCBI36
NG_009822.1:g.11932A>G , LRG_673:g.11932A>G

Transcript Alleles

HGVS Amino-acid change
ENST00000570803.6:c.1076-2A>G ENSP00000460543.2:n.1076-2A>G
ENST00000572080.2:c.1076-2A>G ENSP00000459972.2:n.1076-2A>G
ENST00000577106.6:c.1076-2A>G ENSP00000458306.2:n.1076-2A>G
ENST00000302262.8:c.1076-2A>G MANE Select ENSP00000305692.3:n.1076-2A>G
ENST00000302262.7:c.1076-2A>G ENSP00000305692.3:n.1076-2A>G
ENST00000390015.7:c.1076-2A>G ENSP00000374665.3:n.1076-2A>G
NM_000152.3:c.1076-2A>G , LRG_673t1:c.1076-2A>G NP_000143.2:n.1076-2A>G
NM_001079803.1:c.1076-2A>G NP_001073271.1:n.1076-2A>G
NM_001079804.1:c.1076-2A>G NP_001073272.1:n.1076-2A>G
XM_005257193.1:c.1076-2A>G XP_005257250.1:n.1076-2A>G
XM_005257194.3:c.1076-2A>G XP_005257251.1:n.1076-2A>G
NM_000152.4:c.1076-2A>G NP_000143.2:n.1076-2A>G
NM_001079803.2:c.1076-2A>G NP_001073271.1:n.1076-2A>G
NM_001079804.2:c.1076-2A>G NP_001073272.1:n.1076-2A>G
XM_005257193.2:c.1076-2A>G XP_005257250.1:n.1076-2A>G
XM_005257194.4:c.1076-2A>G XP_005257251.1:n.1076-2A>G
NM_000152.5:c.1076-2A>G MANE Select NP_000143.2:n.1076-2A>G
NM_001079803.3:c.1076-2A>G NP_001073271.1:n.1076-2A>G
NM_001079804.3:c.1076-2A>G NP_001073272.1:n.1076-2A>G
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