Canonical Allele Identifier: CA8815236

Gene: GAA

Linked Data

• ClinVar Variation Id: 371235
• ClinVar RCV Id: RCV000410896
• dbSNP Id: rs560575383
• ExAC: 17:78082523 A / G
• gnomAD v2: 17-78082523-A-G
• gnomAD v4: 17-80108724-A-G
• MyVariant Identifiers: chr17:g.78082523A>G (hg19) ; chr17:g.80108724A>G (hg38)
• ERepo: CA8815236/MONDO:0009290/010
• PubMed: PMID:11738358 ; PMID:19862843 ; PMID:21687968 ; PMID:26497565

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.80108724A>G , CM000679.2:g.80108724A>G	GRCh38
NC_000017.10:g.78082523A>G , CM000679.1:g.78082523A>G	GRCh37
NC_000017.9:g.75697118A>G	NCBI36
NG_009822.1:g.12169A>G , LRG_673:g.12169A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000570803.6:c.1222A>G	ENSP00000460543.2:p.Met408Val
ENST00000572080.2:c.1222A>G	ENSP00000459972.2:p.Met408Val
ENST00000577106.6:c.1222A>G	ENSP00000458306.2:p.Met408Val
ENST00000302262.8:c.1222A>G MANE Select	ENSP00000305692.3:p.Met408Val
ENST00000302262.7:c.1222A>G	ENSP00000305692.3:p.Met408Val
ENST00000390015.7:c.1222A>G	ENSP00000374665.3:p.Met408Val
NM_000152.3:c.1222A>G , LRG_673t1:c.1222A>G	NP_000143.2:p.Met408Val
NM_001079803.1:c.1222A>G	NP_001073271.1:p.Met408Val
NM_001079804.1:c.1222A>G	NP_001073272.1:p.Met408Val
XM_005257193.1:c.1222A>G	XP_005257250.1:p.Met408Val
XM_005257194.3:c.1222A>G	XP_005257251.1:p.Met408Val
NM_000152.4:c.1222A>G	NP_000143.2:p.Met408Val
NM_001079803.2:c.1222A>G	NP_001073271.1:p.Met408Val
NM_001079804.2:c.1222A>G	NP_001073272.1:p.Met408Val
XM_005257193.2:c.1222A>G	XP_005257250.1:p.Met408Val
XM_005257194.4:c.1222A>G	XP_005257251.1:p.Met408Val
NM_000152.5:c.1222A>G MANE Select	NP_000143.2:p.Met408Val
NM_001079803.3:c.1222A>G	NP_001073271.1:p.Met408Val
NM_001079804.3:c.1222A>G	NP_001073272.1:p.Met408Val