Canonical Allele Identifier: CA8815157

Gene: GAA

Linked Data

• ClinVar Variation Id: 370278
• ClinVar RCV Id: RCV000409600 ; RCV001570177
• dbSNP Id: rs762260678
• ExAC: 17:78082266 T / G
• gnomAD v2: 17-78082266-T-G
• gnomAD v4: 17-80108467-T-G
• MyVariant Identifiers: chr17:g.78082266T>G (hg19) ; chr17:g.80108467T>G (hg38)
• ERepo: CA8815157/MONDO:0009290/010
• PubMed: PMID:9259196 ; PMID:10737124 ; PMID:22613277 ; PMID:22676651 ; PMID:23013746 ; PMID:25455803

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.80108467T>G , CM000679.2:g.80108467T>G	GRCh38
NC_000017.10:g.78082266T>G , CM000679.1:g.78082266T>G	GRCh37
NC_000017.9:g.75696861T>G	NCBI36
NG_009822.1:g.11912T>G , LRG_673:g.11912T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000570803.6:c.1076-22T>G	ENSP00000460543.2:n.1076-22T>G
ENST00000572080.2:c.1076-22T>G	ENSP00000459972.2:n.1076-22T>G
ENST00000577106.6:c.1076-22T>G	ENSP00000458306.2:n.1076-22T>G
ENST00000302262.8:c.1076-22T>G MANE Select	ENSP00000305692.3:n.1076-22T>G
ENST00000302262.7:c.1076-22T>G	ENSP00000305692.3:n.1076-22T>G
ENST00000390015.7:c.1076-22T>G	ENSP00000374665.3:n.1076-22T>G
NM_000152.3:c.1076-22T>G , LRG_673t1:c.1076-22T>G	NP_000143.2:n.1076-22T>G
NM_001079803.1:c.1076-22T>G	NP_001073271.1:n.1076-22T>G
NM_001079804.1:c.1076-22T>G	NP_001073272.1:n.1076-22T>G
XM_005257193.1:c.1076-22T>G	XP_005257250.1:n.1076-22T>G
XM_005257194.3:c.1076-22T>G	XP_005257251.1:n.1076-22T>G
NM_000152.4:c.1076-22T>G	NP_000143.2:n.1076-22T>G
NM_001079803.2:c.1076-22T>G	NP_001073271.1:n.1076-22T>G
NM_001079804.2:c.1076-22T>G	NP_001073272.1:n.1076-22T>G
XM_005257193.2:c.1076-22T>G	XP_005257250.1:n.1076-22T>G
XM_005257194.4:c.1076-22T>G	XP_005257251.1:n.1076-22T>G
NM_000152.5:c.1076-22T>G MANE Select	NP_000143.2:n.1076-22T>G
NM_001079803.3:c.1076-22T>G	NP_001073271.1:n.1076-22T>G
NM_001079804.3:c.1076-22T>G	NP_001073272.1:n.1076-22T>G