Canonical Allele Identifier: CA16041878

Gene: GAA

Linked Data

• ClinVar Variation Id: 371622
• ClinVar RCV Id: RCV000412452
• dbSNP Id: rs1055945806
• gnomAD v4: 17-80104552-C-A
• MyVariant Identifiers: chr17:g.78078351C>A (hg19) ; chr17:g.80104552C>A (hg38)
• ERepo: CA16041878/MONDO:0009290/010
• PubMed: PMID:18429042 ; PMID:19588081

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.80104552C>A , CM000679.2:g.80104552C>A	GRCh38
NC_000017.10:g.78078351C>A , CM000679.1:g.78078351C>A	GRCh37
NC_000017.9:g.75692946C>A	NCBI36
NG_009822.1:g.7997C>A , LRG_673:g.7997C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000570803.6:c.-32-3C>A	ENSP00000460543.2:n.-32-3C>A
ENST00000572080.2:c.-32-3C>A	ENSP00000459972.2:n.-32-3C>A
ENST00000577106.6:c.-32-3C>A	ENSP00000458306.2:n.-32-3C>A
ENST00000302262.8:c.-32-3C>A MANE Select	ENSP00000305692.3:n.-32-3C>A
ENST00000302262.7:c.-32-3C>A	ENSP00000305692.3:n.-32-3C>A
ENST00000390015.7:c.-32-3C>A	ENSP00000374665.3:n.-32-3C>A
ENST00000570803.5:c.-32-3C>A	ENSP00000460543.1:n.-32-3C>A
ENST00000577106.5:c.-32-3C>A	ENSP00000458306.1:n.-32-3C>A
NM_000152.3:c.-32-3C>A , LRG_673t1:c.-32-3C>A	NP_000143.2:n.-32-3C>A
NM_001079803.1:c.-32-3C>A	NP_001073271.1:n.-32-3C>A
NM_001079804.1:c.-32-3C>A	NP_001073272.1:n.-32-3C>A
XM_005257193.1:c.-32-3C>A	XP_005257250.1:n.-32-3C>A
XM_005257194.3:c.-32-3C>A	XP_005257251.1:n.-32-3C>A
NM_000152.4:c.-32-3C>A	NP_000143.2:n.-32-3C>A
NM_001079803.2:c.-32-3C>A	NP_001073271.1:n.-32-3C>A
NM_001079804.2:c.-32-3C>A	NP_001073272.1:n.-32-3C>A
XM_005257193.2:c.-32-3C>A	XP_005257250.1:n.-32-3C>A
XM_005257194.4:c.-32-3C>A	XP_005257251.1:n.-32-3C>A
NM_000152.5:c.-32-3C>A MANE Select	NP_000143.2:n.-32-3C>A
NM_001079803.3:c.-32-3C>A	NP_001073271.1:n.-32-3C>A
NM_001079804.3:c.-32-3C>A	NP_001073272.1:n.-32-3C>A