Canonical Allele Identifier: CA116593

Gene: GAA

Linked Data

• ClinVar Variation Id: 4022
• ClinVar RCV Id: RCV000004237 ; RCV000169465 ; RCV003137489
• dbSNP Id: rs121907937
• ExAC: 17:78084749 G / A
• gnomAD v2: 17-78084749-G-A
• gnomAD v3: 17-80110950-G-A
• gnomAD v4: 17-80110950-G-A
• COSMIC: COSM3890624
• MyVariant Identifiers: chr17:g.78084749G>A (hg19) ; chr17:g.80110950G>A (hg38)
• PubMed: PMID:1898413 ; PMID:15501829 ; PMID:17027861 ; PMID:17723315 ; PMID:19862843 ; PMID:21605996 ; PMID:22676651 ; PMID:22704482 ; PMID:22980766 ; PMID:23350563

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.80110950G>A , CM000679.2:g.80110950G>A	GRCh38
NC_000017.10:g.78084749G>A , CM000679.1:g.78084749G>A	GRCh37
NC_000017.9:g.75699344G>A	NCBI36
NG_009822.1:g.14395G>A , LRG_673:g.14395G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000570803.6:c.1561G>A	ENSP00000460543.2:p.Glu521Lys
ENST00000572080.2:c.1561G>A	ENSP00000459972.2:p.Glu521Lys
ENST00000577106.6:c.1561G>A	ENSP00000458306.2:p.Glu521Lys
ENST00000302262.8:c.1561G>A MANE Select	ENSP00000305692.3:p.Glu521Lys
ENST00000302262.7:c.1561G>A	ENSP00000305692.3:p.Glu521Lys
ENST00000390015.7:c.1561G>A	ENSP00000374665.3:p.Glu521Lys
NM_000152.3:c.1561G>A , LRG_673t1:c.1561G>A	NP_000143.2:p.Glu521Lys
NM_001079803.1:c.1561G>A	NP_001073271.1:p.Glu521Lys
NM_001079804.1:c.1561G>A	NP_001073272.1:p.Glu521Lys
XM_005257193.1:c.1561G>A	XP_005257250.1:p.Glu521Lys
XM_005257194.3:c.1561G>A	XP_005257251.1:p.Glu521Lys
NM_000152.4:c.1561G>A	NP_000143.2:p.Glu521Lys
NM_001079803.2:c.1561G>A	NP_001073271.1:p.Glu521Lys
NM_001079804.2:c.1561G>A	NP_001073272.1:p.Glu521Lys
XM_005257193.2:c.1561G>A	XP_005257250.1:p.Glu521Lys
XM_005257194.4:c.1561G>A	XP_005257251.1:p.Glu521Lys
NM_000152.5:c.1561G>A MANE Select	NP_000143.2:p.Glu521Lys
NM_001079803.3:c.1561G>A	NP_001073271.1:p.Glu521Lys
NM_001079804.3:c.1561G>A	NP_001073272.1:p.Glu521Lys