Canonical Allele Identifier: CA502178190
Gene: GAA HGNC NCBI

Linked Data

ClinVar Variation Id: 766427
ClinVar RCV Id: RCV001432412
dbSNP Id: rs1197362128
gnomAD v2: 17-78082099-G-A
MyVariant Identifiers: chr17:g.78082099G>A (hg19) chr17:g.80108300G>A (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.80108300G>A , CM000679.2:g.80108300G>A GRCh38
NC_000017.10:g.78082099G>A , CM000679.1:g.78082099G>A GRCh37
NC_000017.9:g.75696694G>A NCBI36
NG_009822.1:g.11745G>A , LRG_673:g.11745G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000570803.6:c.966G>A ENSP00000460543.2:p.Leu322=
ENST00000572080.2:c.966G>A ENSP00000459972.2:p.Leu322=
ENST00000577106.6:c.966G>A ENSP00000458306.2:p.Leu322=
ENST00000302262.8:c.966G>A MANE Select ENSP00000305692.3:p.Leu322=
ENST00000302262.7:c.966G>A ENSP00000305692.3:p.Leu322=
ENST00000390015.7:c.966G>A ENSP00000374665.3:p.Leu322=
NM_000152.3:c.966G>A , LRG_673t1:c.966G>A NP_000143.2:p.Leu322=
NM_001079803.1:c.966G>A NP_001073271.1:p.Leu322=
NM_001079804.1:c.966G>A NP_001073272.1:p.Leu322=
XM_005257193.1:c.966G>A XP_005257250.1:p.Leu322=
XM_005257194.3:c.966G>A XP_005257251.1:p.Leu322=
NM_000152.4:c.966G>A NP_000143.2:p.Leu322=
NM_001079803.2:c.966G>A NP_001073271.1:p.Leu322=
NM_001079804.2:c.966G>A NP_001073272.1:p.Leu322=
XM_005257193.2:c.966G>A XP_005257250.1:p.Leu322=
XM_005257194.4:c.966G>A XP_005257251.1:p.Leu322=
NM_000152.5:c.966G>A MANE Select NP_000143.2:p.Leu322=
NM_001079803.3:c.966G>A NP_001073271.1:p.Leu322=
NM_001079804.3:c.966G>A NP_001073272.1:p.Leu322=
Search 100 bp 5'
Search 100 bp 3'