Canonical Allele Identifier: CA274102

Gene: GAA

Linked Data

• ClinVar Variation Id: 188902
• ClinVar RCV Id: RCV000169262 ; RCV001781523
• dbSNP Id: rs536906561
• ExAC: 17:78086728 G / A
• gnomAD v2: 17-78086728-G-A
• gnomAD v3: 17-80112929-G-A
• gnomAD v4: 17-80112929-G-A
• COSMIC: COSM4070388
• MyVariant Identifiers: chr17:g.78086728G>A (hg19) ; chr17:g.80112929G>A (hg38)
• ERepo: CA274102/MONDO:0009290/010
• PubMed: PMID:9535769 ; PMID:16478160 ; PMID:17573812 ; PMID:17643989 ; PMID:19862843

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.80112929G>A , CM000679.2:g.80112929G>A	GRCh38
NC_000017.10:g.78086728G>A , CM000679.1:g.78086728G>A	GRCh37
NC_000017.9:g.75701323G>A	NCBI36
NG_009822.1:g.16374G>A , LRG_673:g.16374G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000570803.6:c.1942G>A	ENSP00000460543.2:p.Gly648Ser
ENST00000572080.2:c.*80G>A	ENSP00000459972.2:n.*80G>A
ENST00000577106.6:c.1942G>A	ENSP00000458306.2:p.Gly648Ser
ENST00000302262.8:c.1942G>A MANE Select	ENSP00000305692.3:p.Gly648Ser
ENST00000302262.7:c.1942G>A	ENSP00000305692.3:p.Gly648Ser
ENST00000390015.7:c.1942G>A	ENSP00000374665.3:p.Gly648Ser
ENST00000570716.1:n.382G>A
ENST00000572080.1:c.361G>A
ENST00000572803.1:n.556G>A
NM_000152.3:c.1942G>A , LRG_673t1:c.1942G>A	NP_000143.2:p.Gly648Ser
NM_001079803.1:c.1942G>A	NP_001073271.1:p.Gly648Ser
NM_001079804.1:c.1942G>A	NP_001073272.1:p.Gly648Ser
XM_005257193.1:c.1942G>A	XP_005257250.1:p.Gly648Ser
XM_005257194.3:c.1942G>A	XP_005257251.1:p.Gly648Ser
NM_000152.4:c.1942G>A	NP_000143.2:p.Gly648Ser
NM_001079803.2:c.1942G>A	NP_001073271.1:p.Gly648Ser
NM_001079804.2:c.1942G>A	NP_001073272.1:p.Gly648Ser
XM_005257193.2:c.1942G>A	XP_005257250.1:p.Gly648Ser
XM_005257194.4:c.1942G>A	XP_005257251.1:p.Gly648Ser
NM_000152.5:c.1942G>A MANE Select	NP_000143.2:p.Gly648Ser
NM_001079803.3:c.1942G>A	NP_001073271.1:p.Gly648Ser
NM_001079804.3:c.1942G>A	NP_001073272.1:p.Gly648Ser