Canonical Allele Identifier: CA401367208

Gene: GAA

Linked Data

• ClinVar Variation Id: 449460
• ClinVar RCV Id: RCV000519755 ; RCV001834682
• dbSNP Id: rs892129065
• gnomAD v4: 17-80110953-C-A
• MyVariant Identifiers: chr17:g.78084752C>A (hg19) ; chr17:g.80110953C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.80110953C>A , CM000679.2:g.80110953C>A	GRCh38
NC_000017.10:g.78084752C>A , CM000679.1:g.78084752C>A	GRCh37
NC_000017.9:g.75699347C>A	NCBI36
NG_009822.1:g.14398C>A , LRG_673:g.14398C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000570803.6:c.1564C>A	ENSP00000460543.2:p.Pro522Thr
ENST00000572080.2:c.1564C>A	ENSP00000459972.2:p.Pro522Thr
ENST00000577106.6:c.1564C>A	ENSP00000458306.2:p.Pro522Thr
ENST00000302262.8:c.1564C>A MANE Select	ENSP00000305692.3:p.Pro522Thr
ENST00000302262.7:c.1564C>A	ENSP00000305692.3:p.Pro522Thr
ENST00000390015.7:c.1564C>A	ENSP00000374665.3:p.Pro522Thr
NM_000152.3:c.1564C>A , LRG_673t1:c.1564C>A	NP_000143.2:p.Pro522Thr
NM_001079803.1:c.1564C>A	NP_001073271.1:p.Pro522Thr
NM_001079804.1:c.1564C>A	NP_001073272.1:p.Pro522Thr
XM_005257193.1:c.1564C>A	XP_005257250.1:p.Pro522Thr
XM_005257194.3:c.1564C>A	XP_005257251.1:p.Pro522Thr
NM_000152.4:c.1564C>A	NP_000143.2:p.Pro522Thr
NM_001079803.2:c.1564C>A	NP_001073271.1:p.Pro522Thr
NM_001079804.2:c.1564C>A	NP_001073272.1:p.Pro522Thr
XM_005257193.2:c.1564C>A	XP_005257250.1:p.Pro522Thr
XM_005257194.4:c.1564C>A	XP_005257251.1:p.Pro522Thr
NM_000152.5:c.1564C>A MANE Select	NP_000143.2:p.Pro522Thr
NM_001079803.3:c.1564C>A	NP_001073271.1:p.Pro522Thr
NM_001079804.3:c.1564C>A	NP_001073272.1:p.Pro522Thr