Canonical Allele Identifier: CA16041878
Gene: GAA HGNC NCBI

Linked Data

ClinVar Variation Id: 371622
ClinVar RCV Id: RCV000412452
dbSNP Id: rs1055945806
gnomAD v4: 17-80104552-C-A
MyVariant Identifiers: chr17:g.78078351C>A (hg19) chr17:g.80104552C>A (hg38)
PubMed: PMID:18429042 PMID:19588081
ERepo: CA16041878/MONDO:0009290/010
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.80104552C>A , CM000679.2:g.80104552C>A GRCh38
NC_000017.10:g.78078351C>A , CM000679.1:g.78078351C>A GRCh37
NC_000017.9:g.75692946C>A NCBI36
NG_009822.1:g.7997C>A , LRG_673:g.7997C>A

Transcript Alleles

HGVS Amino-acid change
ENST00000570803.6:c.-32-3C>A ENSP00000460543.2:n.-32-3C>A
ENST00000572080.2:c.-32-3C>A ENSP00000459972.2:n.-32-3C>A
ENST00000577106.6:c.-32-3C>A ENSP00000458306.2:n.-32-3C>A
ENST00000302262.8:c.-32-3C>A MANE Select ENSP00000305692.3:n.-32-3C>A
ENST00000302262.7:c.-32-3C>A ENSP00000305692.3:n.-32-3C>A
ENST00000390015.7:c.-32-3C>A ENSP00000374665.3:n.-32-3C>A
ENST00000570803.5:c.-32-3C>A ENSP00000460543.1:n.-32-3C>A
ENST00000577106.5:c.-32-3C>A ENSP00000458306.1:n.-32-3C>A
NM_000152.3:c.-32-3C>A , LRG_673t1:c.-32-3C>A NP_000143.2:n.-32-3C>A
NM_001079803.1:c.-32-3C>A NP_001073271.1:n.-32-3C>A
NM_001079804.1:c.-32-3C>A NP_001073272.1:n.-32-3C>A
XM_005257193.1:c.-32-3C>A XP_005257250.1:n.-32-3C>A
XM_005257194.3:c.-32-3C>A XP_005257251.1:n.-32-3C>A
NM_000152.4:c.-32-3C>A NP_000143.2:n.-32-3C>A
NM_001079803.2:c.-32-3C>A NP_001073271.1:n.-32-3C>A
NM_001079804.2:c.-32-3C>A NP_001073272.1:n.-32-3C>A
XM_005257193.2:c.-32-3C>A XP_005257250.1:n.-32-3C>A
XM_005257194.4:c.-32-3C>A XP_005257251.1:n.-32-3C>A
NM_000152.5:c.-32-3C>A MANE Select NP_000143.2:n.-32-3C>A
NM_001079803.3:c.-32-3C>A NP_001073271.1:n.-32-3C>A
NM_001079804.3:c.-32-3C>A NP_001073272.1:n.-32-3C>A
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