Canonical Allele Identifier: CA16041901
Gene: GAA HGNC NCBI

Linked Data

ClinVar Variation Id: 370223
ClinVar RCV Id: RCV000409827
dbSNP Id: rs1057516328

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.80116992G>A , CM000679.2:g.80116992G>A GRCh38
NC_000017.10:g.78090791G>A , CM000679.1:g.78090791G>A GRCh37
NC_000017.9:g.75705386G>A NCBI36
NG_009822.1:g.20437G>A , LRG_673:g.20437G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000570803.6:c.2214G>A ENSP00000460543.2:p.Trp738Ter
ENST00000572080.2:c.*352G>A ENSP00000459972.2:n.*352G>A
ENST00000577106.6:c.2214G>A ENSP00000458306.2:p.Trp738Ter
ENST00000302262.8:c.2214G>A MANE Select ENSP00000305692.3:p.Trp738Ter
ENST00000302262.7:c.2214G>A ENSP00000305692.3:p.Trp738Ter
ENST00000390015.7:c.2214G>A ENSP00000374665.3:p.Trp738Ter
ENST00000572080.1:c.633G>A
ENST00000573556.1:n.167G>A
NM_000152.3:c.2214G>A , LRG_673t1:c.2214G>A NP_000143.2:p.Trp738Ter
NM_001079803.1:c.2214G>A NP_001073271.1:p.Trp738Ter
NM_001079804.1:c.2214G>A NP_001073272.1:p.Trp738Ter
XM_005257193.1:c.2214G>A XP_005257250.1:p.Trp738Ter
XM_005257194.3:c.2214G>A XP_005257251.1:p.Trp738Ter
NM_000152.4:c.2214G>A NP_000143.2:p.Trp738Ter
NM_001079803.2:c.2214G>A NP_001073271.1:p.Trp738Ter
NM_001079804.2:c.2214G>A NP_001073272.1:p.Trp738Ter
XM_005257193.2:c.2214G>A XP_005257250.1:p.Trp738Ter
XM_005257194.4:c.2214G>A XP_005257251.1:p.Trp738Ter
NM_000152.5:c.2214G>A MANE Select NP_000143.2:p.Trp738Ter
NM_001079803.3:c.2214G>A NP_001073271.1:p.Trp738Ter
NM_001079804.3:c.2214G>A NP_001073272.1:p.Trp738Ter