Canonical Allele Identifier: CA274472

Gene: GAA

Linked Data

• ClinVar Variation Id: 189184
• ClinVar RCV Id: RCV000169615 ; RCV000727411
• dbSNP Id: rs147804176
• gnomAD v2: 17-78084525-G-C
• gnomAD v3: 17-80110726-G-C
• gnomAD v4: 17-80110726-G-C
• MyVariant Identifiers: chr17:g.78084525G>C (hg19) ; chr17:g.80110726G>C (hg38)
• ERepo: CA274472/MONDO:0009290/010
• PubMed: PMID:11949932 ; PMID:22538254 ; PMID:24495340 ; PMID:25455803

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.80110726G>C , CM000679.2:g.80110726G>C	GRCh38
NC_000017.10:g.78084525G>C , CM000679.1:g.78084525G>C	GRCh37
NC_000017.9:g.75699120G>C	NCBI36
NG_009822.1:g.14171G>C , LRG_673:g.14171G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000570803.6:c.1438-1G>C	ENSP00000460543.2:n.1438-1G>C
ENST00000572080.2:c.1438-1G>C	ENSP00000459972.2:n.1438-1G>C
ENST00000577106.6:c.1438-1G>C	ENSP00000458306.2:n.1438-1G>C
ENST00000302262.8:c.1438-1G>C MANE Select	ENSP00000305692.3:n.1438-1G>C
ENST00000302262.7:c.1438-1G>C	ENSP00000305692.3:n.1438-1G>C
ENST00000390015.7:c.1438-1G>C	ENSP00000374665.3:n.1438-1G>C
NM_000152.3:c.1438-1G>C , LRG_673t1:c.1438-1G>C	NP_000143.2:n.1438-1G>C
NM_001079803.1:c.1438-1G>C	NP_001073271.1:n.1438-1G>C
NM_001079804.1:c.1438-1G>C	NP_001073272.1:n.1438-1G>C
XM_005257193.1:c.1438-1G>C	XP_005257250.1:n.1438-1G>C
XM_005257194.3:c.1438-1G>C	XP_005257251.1:n.1438-1G>C
NM_000152.4:c.1438-1G>C	NP_000143.2:n.1438-1G>C
NM_001079803.2:c.1438-1G>C	NP_001073271.1:n.1438-1G>C
NM_001079804.2:c.1438-1G>C	NP_001073272.1:n.1438-1G>C
XM_005257193.2:c.1438-1G>C	XP_005257250.1:n.1438-1G>C
XM_005257194.4:c.1438-1G>C	XP_005257251.1:n.1438-1G>C
NM_000152.5:c.1438-1G>C MANE Select	NP_000143.2:n.1438-1G>C
NM_001079803.3:c.1438-1G>C	NP_001073271.1:n.1438-1G>C
NM_001079804.3:c.1438-1G>C	NP_001073272.1:n.1438-1G>C