Canonical Allele Identifier: CA207869

Gene: GAA

Linked Data

• ClinVar Variation Id: 196222
• ClinVar RCV Id: RCV000194005 ; RCV000542661 ; RCV000724048 ; RCV002362904
• dbSNP Id: rs145866792
• ExAC: 17:78079689 G / A
• gnomAD v2: 17-78079689-G-A
• gnomAD v3: 17-80105890-G-A
• gnomAD v4: 17-80105890-G-A
• MyVariant Identifiers: chr17:g.78079689G>A (hg19) ; chr17:g.80105890G>A (hg38)
• ERepo: CA207869/MONDO:0009290/010

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.80105890G>A , CM000679.2:g.80105890G>A	GRCh38
NC_000017.10:g.78079689G>A , CM000679.1:g.78079689G>A	GRCh37
NC_000017.9:g.75694284G>A	NCBI36
NG_009822.1:g.9335G>A , LRG_673:g.9335G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000570803.6:c.688G>A	ENSP00000460543.2:p.Val230Met
ENST00000572080.2:c.688G>A	ENSP00000459972.2:p.Val230Met
ENST00000577106.6:c.688G>A	ENSP00000458306.2:p.Val230Met
ENST00000302262.8:c.688G>A MANE Select	ENSP00000305692.3:p.Val230Met
ENST00000302262.7:c.688G>A	ENSP00000305692.3:p.Val230Met
ENST00000390015.7:c.688G>A	ENSP00000374665.3:p.Val230Met
ENST00000570803.5:c.688G>A	ENSP00000460543.1:p.Val230Met
NM_000152.3:c.688G>A , LRG_673t1:c.688G>A	NP_000143.2:p.Val230Met
NM_001079803.1:c.688G>A	NP_001073271.1:p.Val230Met
NM_001079804.1:c.688G>A	NP_001073272.1:p.Val230Met
XM_005257193.1:c.688G>A	XP_005257250.1:p.Val230Met
XM_005257194.3:c.688G>A	XP_005257251.1:p.Val230Met
NM_000152.4:c.688G>A	NP_000143.2:p.Val230Met
NM_001079803.2:c.688G>A	NP_001073271.1:p.Val230Met
NM_001079804.2:c.688G>A	NP_001073272.1:p.Val230Met
XM_005257193.2:c.688G>A	XP_005257250.1:p.Val230Met
XM_005257194.4:c.688G>A	XP_005257251.1:p.Val230Met
NM_000152.5:c.688G>A MANE Select	NP_000143.2:p.Val230Met
NM_001079803.3:c.688G>A	NP_001073271.1:p.Val230Met
NM_001079804.3:c.688G>A	NP_001073272.1:p.Val230Met