Canonical Allele Identifier: CA627697924

Gene: GAA

Linked Data

• dbSNP Id: rs1316979657
• gnomAD v2: 17-78075419-G-A
• gnomAD v3: 17-80101620-G-A
• gnomAD v4: 17-80101620-G-A
• MyVariant Identifiers: chr17:g.78075419G>A (hg19) ; chr17:g.80101620G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.80101620G>A , CM000679.2:g.80101620G>A	GRCh38
NC_000017.10:g.78075419G>A , CM000679.1:g.78075419G>A	GRCh37
NC_000017.9:g.75690014G>A	NCBI36
NG_009822.1:g.5065G>A , LRG_673:g.5065G>A
NG_029761.1:g.69989G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000570803.6:c.-38G>A	ENSP00000460543.2:n.-38G>A
ENST00000572080.2:c.-118G>A	ENSP00000459972.2:n.-118G>A
ENST00000577106.6:c.-153G>A	ENSP00000458306.2:n.-153G>A
ENST00000302262.8:c.-303G>A MANE Select	ENSP00000305692.3:n.-303G>A
ENST00000390015.7:c.-118G>A	ENSP00000374665.3:n.-118G>A
ENST00000570803.5:c.-38G>A	ENSP00000460543.1:n.-38G>A
ENST00000574376.1:n.24G>A
ENST00000577106.5:c.-153G>A	ENSP00000458306.1:n.-153G>A
NM_000152.3:c.-303G>A , LRG_673t1:c.-303G>A	NP_000143.2:n.-303G>A
NM_001079803.1:c.-118G>A	NP_001073271.1:n.-118G>A
NM_001079804.1:c.-38G>A	NP_001073272.1:n.-38G>A
XM_005257193.1:c.-213G>A	XP_005257250.1:n.-213G>A
XM_005257194.3:c.-153G>A	XP_005257251.1:n.-153G>A
NM_000152.4:c.-303G>A	NP_000143.2:n.-303G>A
NM_001079803.2:c.-118G>A	NP_001073271.1:n.-118G>A
NM_001079804.2:c.-38G>A	NP_001073272.1:n.-38G>A
NR_134848.1:n.95G>A
XM_005257194.4:c.-153G>A	XP_005257251.1:n.-153G>A
NM_000152.5:c.-303G>A MANE Select	NP_000143.2:n.-303G>A
NM_001079803.3:c.-118G>A	NP_001073271.1:n.-118G>A
NM_001079804.3:c.-38G>A	NP_001073272.1:n.-38G>A
NR_134848.2:n.40G>A