Canonical Allele Identifier: CA775505955

Gene: GAA

Linked Data

• dbSNP Id: rs1473604588
• gnomAD v3: 17-80101660-C-G
• gnomAD v4: 17-80101660-C-G
• MyVariant Identifiers: chr17:g.78075459C>G (hg19) ; chr17:g.80101660C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.80101660C>G , CM000679.2:g.80101660C>G	GRCh38
NC_000017.10:g.78075459C>G , CM000679.1:g.78075459C>G	GRCh37
NC_000017.9:g.75690054C>G	NCBI36
NG_009822.1:g.5105C>G , LRG_673:g.5105C>G
NG_029761.1:g.70029C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000570803.6:c.-33+35C>G	ENSP00000460543.2:n.-33+35C>G
ENST00000572080.2:c.-113+35C>G	ENSP00000459972.2:n.-113+35C>G
ENST00000577106.6:c.-148+35C>G	ENSP00000458306.2:n.-148+35C>G
ENST00000302262.8:c.-263C>G MANE Select	ENSP00000305692.3:n.-263C>G
ENST00000390015.7:c.-113+35C>G	ENSP00000374665.3:n.-113+35C>G
ENST00000570803.5:c.-33+35C>G	ENSP00000460543.1:n.-33+35C>G
ENST00000574376.1:n.29+35C>G
ENST00000577106.5:c.-148+35C>G	ENSP00000458306.1:n.-148+35C>G
NM_000152.3:c.-263C>G , LRG_673t1:c.-263C>G	NP_000143.2:n.-263C>G
NM_001079803.1:c.-113+35C>G	NP_001073271.1:n.-113+35C>G
NM_001079804.1:c.-33+35C>G	NP_001073272.1:n.-33+35C>G
XM_005257193.1:c.-173C>G	XP_005257250.1:n.-173C>G
XM_005257194.3:c.-148+35C>G	XP_005257251.1:n.-148+35C>G
NM_000152.4:c.-263C>G	NP_000143.2:n.-263C>G
NM_001079803.2:c.-113+35C>G	NP_001073271.1:n.-113+35C>G
NM_001079804.2:c.-33+35C>G	NP_001073272.1:n.-33+35C>G
NR_134848.1:n.100+35C>G
XM_005257193.2:c.-173C>G	XP_005257250.1:n.-173C>G
XM_005257194.4:c.-148+35C>G	XP_005257251.1:n.-148+35C>G
NM_000152.5:c.-263C>G MANE Select	NP_000143.2:n.-263C>G
NM_001079803.3:c.-113+35C>G	NP_001073271.1:n.-113+35C>G
NM_001079804.3:c.-33+35C>G	NP_001073272.1:n.-33+35C>G
NR_134848.2:n.45+35C>G