Canonical Allele Identifier: CA401363061

Gene: GAA

Linked Data

• ClinVar Variation Id: 2577230
• ClinVar RCV Id: RCV003324307 ; RCV003481490
• dbSNP Id: rs121907944
• gnomAD v2: 17-78081373-C-A
• gnomAD v3: 17-80107574-C-A
• gnomAD v4: 17-80107574-C-A
• MyVariant Identifiers: chr17:g.78081373C>A (hg19) ; chr17:g.80107574C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.80107574C>A , CM000679.2:g.80107574C>A	GRCh38
NC_000017.10:g.78081373C>A , CM000679.1:g.78081373C>A	GRCh37
NC_000017.9:g.75695968C>A	NCBI36
NG_009822.1:g.11019C>A , LRG_673:g.11019C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000570803.6:c.710C>A	ENSP00000460543.2:p.Ala237Glu
ENST00000572080.2:c.710C>A	ENSP00000459972.2:p.Ala237Glu
ENST00000577106.6:c.710C>A	ENSP00000458306.2:p.Ala237Glu
ENST00000302262.8:c.710C>A MANE Select	ENSP00000305692.3:p.Ala237Glu
ENST00000302262.7:c.710C>A	ENSP00000305692.3:p.Ala237Glu
ENST00000390015.7:c.710C>A	ENSP00000374665.3:p.Ala237Glu
ENST00000570803.5:c.710C>A	ENSP00000460543.1:p.Ala237Glu
NM_000152.3:c.710C>A , LRG_673t1:c.710C>A	NP_000143.2:p.Ala237Glu
NM_001079803.1:c.710C>A	NP_001073271.1:p.Ala237Glu
NM_001079804.1:c.710C>A	NP_001073272.1:p.Ala237Glu
XM_005257193.1:c.710C>A	XP_005257250.1:p.Ala237Glu
XM_005257194.3:c.710C>A	XP_005257251.1:p.Ala237Glu
NM_000152.4:c.710C>A	NP_000143.2:p.Ala237Glu
NM_001079803.2:c.710C>A	NP_001073271.1:p.Ala237Glu
NM_001079804.2:c.710C>A	NP_001073272.1:p.Ala237Glu
XM_005257193.2:c.710C>A	XP_005257250.1:p.Ala237Glu
XM_005257194.4:c.710C>A	XP_005257251.1:p.Ala237Glu
NM_000152.5:c.710C>A MANE Select	NP_000143.2:p.Ala237Glu
NM_001079803.3:c.710C>A	NP_001073271.1:p.Ala237Glu
NM_001079804.3:c.710C>A	NP_001073272.1:p.Ala237Glu