Canonical Allele Identifier: CA10647037

Gene: GAA

Linked Data

• ClinVar Variation Id: 325771
• ClinVar RCV Id: RCV000331041 ; RCV000398836 ; RCV001675823
• dbSNP Id: rs77514632
• gnomAD v2: 17-78075544-G-A
• gnomAD v3: 17-80101745-G-A
• gnomAD v4: 17-80101745-G-A
• MyVariant Identifiers: chr17:g.78075544G>A (hg19) ; chr17:g.80101745G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.80101745G>A , CM000679.2:g.80101745G>A	GRCh38
NC_000017.10:g.78075544G>A , CM000679.1:g.78075544G>A	GRCh37
NC_000017.9:g.75690139G>A	NCBI36
NG_009822.1:g.5190G>A , LRG_673:g.5190G>A
NG_029761.1:g.70114G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000570803.6:c.-33+120G>A	ENSP00000460543.2:n.-33+120G>A
ENST00000572080.2:c.-112-66G>A	ENSP00000459972.2:n.-112-66G>A
ENST00000577106.6:c.-147-66G>A	ENSP00000458306.2:n.-147-66G>A
ENST00000302262.8:c.-178G>A MANE Select	ENSP00000305692.3:n.-178G>A
ENST00000302262.7:c.-178G>A	ENSP00000305692.3:n.-178G>A
ENST00000390015.7:c.-112-66G>A	ENSP00000374665.3:n.-112-66G>A
ENST00000570803.5:c.-33+120G>A	ENSP00000460543.1:n.-33+120G>A
ENST00000574376.1:n.30-66G>A
ENST00000577106.5:c.-147-66G>A	ENSP00000458306.1:n.-147-66G>A
NM_000152.3:c.-178G>A , LRG_673t1:c.-178G>A	NP_000143.2:n.-178G>A
NM_001079803.1:c.-112-66G>A	NP_001073271.1:n.-112-66G>A
NM_001079804.1:c.-33+120G>A	NP_001073272.1:n.-33+120G>A
XM_005257193.1:c.-113+25G>A	XP_005257250.1:n.-113+25G>A
XM_005257194.3:c.-147-66G>A	XP_005257251.1:n.-147-66G>A
NM_000152.4:c.-178G>A	NP_000143.2:n.-178G>A
NM_001079803.2:c.-112-66G>A	NP_001073271.1:n.-112-66G>A
NM_001079804.2:c.-33+120G>A	NP_001073272.1:n.-33+120G>A
NR_134848.1:n.101-66G>A
XM_005257193.2:c.-113+25G>A	XP_005257250.1:n.-113+25G>A
XM_005257194.4:c.-147-66G>A	XP_005257251.1:n.-147-66G>A
NM_000152.5:c.-178G>A MANE Select	NP_000143.2:n.-178G>A
NM_001079803.3:c.-112-66G>A	NP_001073271.1:n.-112-66G>A
NM_001079804.3:c.-33+120G>A	NP_001073272.1:n.-33+120G>A
NR_134848.2:n.46-66G>A