Canonical Allele Identifier: CA294895841

Gene: GAA

Linked Data

• ClinVar Variation Id: 495664
• ClinVar RCV Id: RCV000586125 ; RCV001783090
• dbSNP Id: rs991082382
• gnomAD v2: 17-78085880-G-A
• gnomAD v3: 17-80112081-G-A
• gnomAD v4: 17-80112081-G-A
• MyVariant Identifiers: chr17:g.78085880G>A (hg19) ; chr17:g.80112081G>A (hg38)
• ERepo: CA294895841/MONDO:0009290/010
• PubMed: PMID:14695532 ; PMID:21676566 ; PMID:23601496

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.80112081G>A , CM000679.2:g.80112081G>A	GRCh38
NC_000017.10:g.78085880G>A , CM000679.1:g.78085880G>A	GRCh37
NC_000017.9:g.75700475G>A	NCBI36
NG_009822.1:g.15526G>A , LRG_673:g.15526G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000570803.6:c.1735G>A	ENSP00000460543.2:p.Glu579Lys
ENST00000572080.2:c.1735G>A	ENSP00000459972.2:p.Glu579Lys
ENST00000577106.6:c.1735G>A	ENSP00000458306.2:p.Glu579Lys
ENST00000302262.8:c.1735G>A MANE Select	ENSP00000305692.3:p.Glu579Lys
ENST00000302262.7:c.1735G>A	ENSP00000305692.3:p.Glu579Lys
ENST00000390015.7:c.1735G>A	ENSP00000374665.3:p.Glu579Lys
ENST00000572080.1:c.123G>A
ENST00000572803.1:n.349G>A
NM_000152.3:c.1735G>A , LRG_673t1:c.1735G>A	NP_000143.2:p.Glu579Lys
NM_001079803.1:c.1735G>A	NP_001073271.1:p.Glu579Lys
NM_001079804.1:c.1735G>A	NP_001073272.1:p.Glu579Lys
XM_005257193.1:c.1735G>A	XP_005257250.1:p.Glu579Lys
XM_005257194.3:c.1735G>A	XP_005257251.1:p.Glu579Lys
NM_000152.4:c.1735G>A	NP_000143.2:p.Glu579Lys
NM_001079803.2:c.1735G>A	NP_001073271.1:p.Glu579Lys
NM_001079804.2:c.1735G>A	NP_001073272.1:p.Glu579Lys
XM_005257193.2:c.1735G>A	XP_005257250.1:p.Glu579Lys
XM_005257194.4:c.1735G>A	XP_005257251.1:p.Glu579Lys
NM_000152.5:c.1735G>A MANE Select	NP_000143.2:p.Glu579Lys
NM_001079803.3:c.1735G>A	NP_001073271.1:p.Glu579Lys
NM_001079804.3:c.1735G>A	NP_001073272.1:p.Glu579Lys