Canonical Allele Identifier: CA8815482

Gene: GAA

Linked Data

• ClinVar Variation Id: 370130
• ClinVar RCV Id: RCV000408964 ; RCV000521900
• dbSNP Id: rs377544304
• ExAC: 17:78086421 G / A
• gnomAD v2: 17-78086421-G-A
• gnomAD v4: 17-80112622-G-A
• COSMIC: COSM2803160
• MyVariant Identifiers: chr17:g.78086421G>A (hg19) ; chr17:g.80112622G>A (hg38)
• PubMed: PMID:10338092 ; PMID:18757064 ; PMID:18995995 ; PMID:19862843 ; PMID:21920843 ; PMID:24715333
• ERepo: CA8815482/MONDO:0009290/010

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.80112622G>A , CM000679.2:g.80112622G>A	GRCh38
NC_000017.10:g.78086421G>A , CM000679.1:g.78086421G>A	GRCh37
NC_000017.9:g.75701016G>A	NCBI36
NG_009822.1:g.16067G>A , LRG_673:g.16067G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000570803.6:c.1799G>A	ENSP00000460543.2:p.Arg600His
ENST00000572080.2:c.1799G>A	ENSP00000459972.2:p.Arg600His
ENST00000577106.6:c.1799G>A	ENSP00000458306.2:p.Arg600His
ENST00000302262.8:c.1799G>A MANE Select	ENSP00000305692.3:p.Arg600His
ENST00000302262.7:c.1799G>A	ENSP00000305692.3:p.Arg600His
ENST00000390015.7:c.1799G>A	ENSP00000374665.3:p.Arg600His
ENST00000570716.1:n.239G>A
ENST00000572080.1:c.187G>A
ENST00000572803.1:n.413G>A
NM_000152.3:c.1799G>A , LRG_673t1:c.1799G>A	NP_000143.2:p.Arg600His
NM_001079803.1:c.1799G>A	NP_001073271.1:p.Arg600His
NM_001079804.1:c.1799G>A	NP_001073272.1:p.Arg600His
XM_005257193.1:c.1799G>A	XP_005257250.1:p.Arg600His
XM_005257194.3:c.1799G>A	XP_005257251.1:p.Arg600His
NM_000152.4:c.1799G>A	NP_000143.2:p.Arg600His
NM_001079803.2:c.1799G>A	NP_001073271.1:p.Arg600His
NM_001079804.2:c.1799G>A	NP_001073272.1:p.Arg600His
XM_005257193.2:c.1799G>A	XP_005257250.1:p.Arg600His
XM_005257194.4:c.1799G>A	XP_005257251.1:p.Arg600His
NM_000152.5:c.1799G>A MANE Select	NP_000143.2:p.Arg600His
NM_001079803.3:c.1799G>A	NP_001073271.1:p.Arg600His
NM_001079804.3:c.1799G>A	NP_001073272.1:p.Arg600His