Canonical Allele Identifier: CA116610

Gene: GAA

Linked Data

• ClinVar Variation Id: 4029
• ClinVar RCV Id: RCV000004244 ; RCV000055768 ; RCV001785448 ; RCV004018551
• dbSNP Id: rs28940868
• ExAC: 17:78086721 C / A
• gnomAD v2: 17-78086721-C-A
• gnomAD v3: 17-80112922-C-A
• gnomAD v4: 17-80112922-C-A
• MyVariant Identifiers: chr17:g.78086721C>A (hg19) ; chr17:g.80112922C>A (hg38)
• ERepo: CA116610/MONDO:0009290/010
• PubMed: PMID:8935410 ; PMID:9554747 ; PMID:20301438

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.80112922C>A , CM000679.2:g.80112922C>A	GRCh38
NC_000017.10:g.78086721C>A , CM000679.1:g.78086721C>A	GRCh37
NC_000017.9:g.75701316C>A	NCBI36
NG_009822.1:g.16367C>A , LRG_673:g.16367C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000570803.6:c.1935C>A	ENSP00000460543.2:p.Asp645Glu
ENST00000572080.2:c.*73C>A	ENSP00000459972.2:n.*73C>A
ENST00000577106.6:c.1935C>A	ENSP00000458306.2:p.Asp645Glu
ENST00000302262.8:c.1935C>A MANE Select	ENSP00000305692.3:p.Asp645Glu
ENST00000302262.7:c.1935C>A	ENSP00000305692.3:p.Asp645Glu
ENST00000390015.7:c.1935C>A	ENSP00000374665.3:p.Asp645Glu
ENST00000570716.1:n.375C>A
ENST00000572080.1:c.354C>A
ENST00000572803.1:n.549C>A
NM_000152.3:c.1935C>A , LRG_673t1:c.1935C>A	NP_000143.2:p.Asp645Glu
NM_001079803.1:c.1935C>A	NP_001073271.1:p.Asp645Glu
NM_001079804.1:c.1935C>A	NP_001073272.1:p.Asp645Glu
XM_005257193.1:c.1935C>A	XP_005257250.1:p.Asp645Glu
XM_005257194.3:c.1935C>A	XP_005257251.1:p.Asp645Glu
NM_000152.4:c.1935C>A	NP_000143.2:p.Asp645Glu
NM_001079803.2:c.1935C>A	NP_001073271.1:p.Asp645Glu
NM_001079804.2:c.1935C>A	NP_001073272.1:p.Asp645Glu
XM_005257193.2:c.1935C>A	XP_005257250.1:p.Asp645Glu
XM_005257194.4:c.1935C>A	XP_005257251.1:p.Asp645Glu
NM_000152.5:c.1935C>A MANE Select	NP_000143.2:p.Asp645Glu
NM_001079803.3:c.1935C>A	NP_001073271.1:p.Asp645Glu
NM_001079804.3:c.1935C>A	NP_001073272.1:p.Asp645Glu