Canonical Allele Identifier: CA16041886

Gene: GAA

Linked Data

• ClinVar Variation Id: 370577
• ClinVar RCV Id: RCV000410689 ; RCV000730212
• dbSNP Id: rs1057516600
• gnomAD v2: 17-78081615-A-G
• gnomAD v3: 17-80107816-A-G
• gnomAD v4: 17-80107816-A-G
• MyVariant Identifiers: chr17:g.78081615A>G (hg19) ; chr17:g.80107816A>G (hg38)
• PubMed: PMID:10528311 ; PMID:14695532 ; PMID:17616415 ; PMID:19862843 ; PMID:23884227 ; PMID:25998610

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.80107816A>G , CM000679.2:g.80107816A>G	GRCh38
NC_000017.10:g.78081615A>G , CM000679.1:g.78081615A>G	GRCh37
NC_000017.9:g.75696210A>G	NCBI36
NG_009822.1:g.11261A>G , LRG_673:g.11261A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000570803.6:c.875A>G	ENSP00000460543.2:p.Tyr292Cys
ENST00000572080.2:c.875A>G	ENSP00000459972.2:p.Tyr292Cys
ENST00000577106.6:c.875A>G	ENSP00000458306.2:p.Tyr292Cys
ENST00000302262.8:c.875A>G MANE Select	ENSP00000305692.3:p.Tyr292Cys
ENST00000302262.7:c.875A>G	ENSP00000305692.3:p.Tyr292Cys
ENST00000390015.7:c.875A>G	ENSP00000374665.3:p.Tyr292Cys
NM_000152.3:c.875A>G , LRG_673t1:c.875A>G	NP_000143.2:p.Tyr292Cys
NM_001079803.1:c.875A>G	NP_001073271.1:p.Tyr292Cys
NM_001079804.1:c.875A>G	NP_001073272.1:p.Tyr292Cys
XM_005257193.1:c.875A>G	XP_005257250.1:p.Tyr292Cys
XM_005257194.3:c.875A>G	XP_005257251.1:p.Tyr292Cys
NM_000152.4:c.875A>G	NP_000143.2:p.Tyr292Cys
NM_001079803.2:c.875A>G	NP_001073271.1:p.Tyr292Cys
NM_001079804.2:c.875A>G	NP_001073272.1:p.Tyr292Cys
XM_005257193.2:c.875A>G	XP_005257250.1:p.Tyr292Cys
XM_005257194.4:c.875A>G	XP_005257251.1:p.Tyr292Cys
NM_000152.5:c.875A>G MANE Select	NP_000143.2:p.Tyr292Cys
NM_001079803.3:c.875A>G	NP_001073271.1:p.Tyr292Cys
NM_001079804.3:c.875A>G	NP_001073272.1:p.Tyr292Cys