Canonical Allele Identifier: CA274414
Gene: GAA HGNC NCBI

Linked Data

ClinVar Variation Id: 189144
dbSNP Id: rs786204727

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.80112649dup , CM000679.2:g.80112649dup GRCh38
NC_000017.10:g.78086448dup , CM000679.1:g.78086448dup GRCh37
NC_000017.9:g.75701043dup NCBI36
NG_009822.1:g.16094dup , LRG_673:g.16094dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000570803.6:c.1826dup ENSP00000460543.2:p.Tyr609Ter
ENST00000572080.2:c.1826dup ENSP00000459972.2:p.Tyr609Ter
ENST00000577106.6:c.1826dup ENSP00000458306.2:p.Tyr609Ter
ENST00000302262.8:c.1826dup MANE Select ENSP00000305692.3:p.Tyr609Ter
ENST00000302262.7:c.1826dup ENSP00000305692.3:p.Tyr609Ter
ENST00000390015.7:c.1826dup ENSP00000374665.3:p.Tyr609Ter
ENST00000570716.1:n.266dup
ENST00000572080.1:c.214dup
ENST00000572803.1:n.440dup
NM_000152.3:c.1826dup , LRG_673t1:c.1826dup NP_000143.2:p.Tyr609Ter
NM_001079803.1:c.1826dup NP_001073271.1:p.Tyr609Ter
NM_001079804.1:c.1826dup NP_001073272.1:p.Tyr609Ter
XM_005257193.1:c.1826dup XP_005257250.1:p.Tyr609Ter
XM_005257194.3:c.1826dup XP_005257251.1:p.Tyr609Ter
NM_000152.4:c.1826dup NP_000143.2:p.Tyr609Ter
NM_001079803.2:c.1826dup NP_001073271.1:p.Tyr609Ter
NM_001079804.2:c.1826dup NP_001073272.1:p.Tyr609Ter
XM_005257193.2:c.1826dup XP_005257250.1:p.Tyr609Ter
XM_005257194.4:c.1826dup XP_005257251.1:p.Tyr609Ter
NM_000152.5:c.1826dup MANE Select NP_000143.2:p.Tyr609Ter
NM_001079803.3:c.1826dup NP_001073271.1:p.Tyr609Ter
NM_001079804.3:c.1826dup NP_001073272.1:p.Tyr609Ter