Canonical Allele Identifier: CA358045

Gene: GAA

Linked Data

• ClinVar Variation Id: 225114
• ClinVar RCV Id: RCV000797884 ; RCV003488466 ; RCV004017497
• dbSNP Id: rs764622267
• gnomAD v2: 17-78081517-C-G
• gnomAD v4: 17-80107718-C-G
• MyVariant Identifiers: chr17:g.78081517C>G (hg19) ; chr17:g.80107718C>G (hg38)
• PubMed: PMID:3132435 ; PMID:8558570 ; PMID:8990003 ; PMID:12897283 ; PMID:15985590 ; PMID:16702877 ; PMID:16737883 ; PMID:17151339 ; PMID:17853454 ; PMID:18458862 ; PMID:19542901 ; PMID:21631931 ; PMID:21757382 ; PMID:23430493 ; PMID:23531252 ; PMID:24107549 ; PMID:25526786 ; PMID:25673129

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.80107718C>G , CM000679.2:g.80107718C>G	GRCh38
NC_000017.10:g.78081517C>G , CM000679.1:g.78081517C>G	GRCh37
NC_000017.9:g.75696112C>G	NCBI36
NG_009822.1:g.11163C>G , LRG_673:g.11163C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000570803.6:c.854C>G	ENSP00000460543.2:p.Pro285Arg
ENST00000572080.2:c.854C>G	ENSP00000459972.2:p.Pro285Arg
ENST00000577106.6:c.854C>G	ENSP00000458306.2:p.Pro285Arg
ENST00000302262.8:c.854C>G MANE Select	ENSP00000305692.3:p.Pro285Arg
ENST00000302262.7:c.854C>G	ENSP00000305692.3:p.Pro285Arg
ENST00000390015.7:c.854C>G	ENSP00000374665.3:p.Pro285Arg
ENST00000570803.5:c.854C>G
NM_000152.3:c.854C>G , LRG_673t1:c.854C>G	NP_000143.2:p.Pro285Arg
NM_001079803.1:c.854C>G	NP_001073271.1:p.Pro285Arg
NM_001079804.1:c.854C>G	NP_001073272.1:p.Pro285Arg
XM_005257193.1:c.854C>G	XP_005257250.1:p.Pro285Arg
XM_005257194.3:c.854C>G	XP_005257251.1:p.Pro285Arg
NM_000152.4:c.854C>G	NP_000143.2:p.Pro285Arg
NM_001079803.2:c.854C>G	NP_001073271.1:p.Pro285Arg
NM_001079804.2:c.854C>G	NP_001073272.1:p.Pro285Arg
XM_005257193.2:c.854C>G	XP_005257250.1:p.Pro285Arg
XM_005257194.4:c.854C>G	XP_005257251.1:p.Pro285Arg
NM_000152.5:c.854C>G MANE Select	NP_000143.2:p.Pro285Arg
NM_001079803.3:c.854C>G	NP_001073271.1:p.Pro285Arg
NM_001079804.3:c.854C>G	NP_001073272.1:p.Pro285Arg