Canonical Allele Identifier: CA10605471

Gene: GAA

Linked Data

• ClinVar Variation Id: 286458
• ClinVar RCV Id: RCV000300474 ; RCV001200862
• dbSNP Id: rs886043399
• gnomAD v3: 17-80112101-G-A
• gnomAD v4: 17-80112101-G-A
• MyVariant Identifiers: chr17:g.78085900G>A (hg19) ; chr17:g.80112101G>A (hg38)
• PubMed: PMID:23891399
• ERepo: CA10605471/MONDO:0009290/010

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.80112101G>A , CM000679.2:g.80112101G>A	GRCh38
NC_000017.10:g.78085900G>A , CM000679.1:g.78085900G>A	GRCh37
NC_000017.9:g.75700495G>A	NCBI36
NG_009822.1:g.15546G>A , LRG_673:g.15546G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000570803.6:c.1754+1G>A	ENSP00000460543.2:n.1754+1G>A
ENST00000572080.2:c.1754+1G>A	ENSP00000459972.2:n.1754+1G>A
ENST00000577106.6:c.1754+1G>A	ENSP00000458306.2:n.1754+1G>A
ENST00000302262.8:c.1754+1G>A MANE Select	ENSP00000305692.3:n.1754+1G>A
ENST00000302262.7:c.1754+1G>A	ENSP00000305692.3:n.1754+1G>A
ENST00000390015.7:c.1754+1G>A	ENSP00000374665.3:n.1754+1G>A
ENST00000572080.1:c.142+1G>A
ENST00000572803.1:n.368+1G>A
NM_000152.3:c.1754+1G>A , LRG_673t1:c.1754+1G>A	NP_000143.2:n.1754+1G>A
NM_001079803.1:c.1754+1G>A	NP_001073271.1:n.1754+1G>A
NM_001079804.1:c.1754+1G>A	NP_001073272.1:n.1754+1G>A
XM_005257193.1:c.1754+1G>A	XP_005257250.1:n.1754+1G>A
XM_005257194.3:c.1754+1G>A	XP_005257251.1:n.1754+1G>A
NM_000152.4:c.1754+1G>A	NP_000143.2:n.1754+1G>A
NM_001079803.2:c.1754+1G>A	NP_001073271.1:n.1754+1G>A
NM_001079804.2:c.1754+1G>A	NP_001073272.1:n.1754+1G>A
XM_005257193.2:c.1754+1G>A	XP_005257250.1:n.1754+1G>A
XM_005257194.4:c.1754+1G>A	XP_005257251.1:n.1754+1G>A
NM_000152.5:c.1754+1G>A MANE Select	NP_000143.2:n.1754+1G>A
NM_001079803.3:c.1754+1G>A	NP_001073271.1:n.1754+1G>A
NM_001079804.3:c.1754+1G>A	NP_001073272.1:n.1754+1G>A