Canonical Allele Identifier: CA16620645
Gene: GAA HGNC NCBI

Linked Data

ClinVar Variation Id: 423925
ClinVar RCV Id: RCV000479891 RCV001265224
dbSNP Id: rs1064796703
MyVariant Identifiers: chr17:g.78082195C>A (hg19) chr17:g.80108396C>A (hg38)
ERepo: CA16620645/MONDO:0009290/010
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.80108396C>A , CM000679.2:g.80108396C>A GRCh38
NC_000017.10:g.78082195C>A , CM000679.1:g.78082195C>A GRCh37
NC_000017.9:g.75696790C>A NCBI36
NG_009822.1:g.11841C>A , LRG_673:g.11841C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000570803.6:c.1062C>A ENSP00000460543.2:p.Tyr354Ter
ENST00000572080.2:c.1062C>A ENSP00000459972.2:p.Tyr354Ter
ENST00000577106.6:c.1062C>A ENSP00000458306.2:p.Tyr354Ter
ENST00000302262.8:c.1062C>A MANE Select ENSP00000305692.3:p.Tyr354Ter
ENST00000302262.7:c.1062C>A ENSP00000305692.3:p.Tyr354Ter
ENST00000390015.7:c.1062C>A ENSP00000374665.3:p.Tyr354Ter
NM_000152.3:c.1062C>A , LRG_673t1:c.1062C>A NP_000143.2:p.Tyr354Ter
NM_001079803.1:c.1062C>A NP_001073271.1:p.Tyr354Ter
NM_001079804.1:c.1062C>A NP_001073272.1:p.Tyr354Ter
XM_005257193.1:c.1062C>A XP_005257250.1:p.Tyr354Ter
XM_005257194.3:c.1062C>A XP_005257251.1:p.Tyr354Ter
NM_000152.4:c.1062C>A NP_000143.2:p.Tyr354Ter
NM_001079803.2:c.1062C>A NP_001073271.1:p.Tyr354Ter
NM_001079804.2:c.1062C>A NP_001073272.1:p.Tyr354Ter
XM_005257193.2:c.1062C>A XP_005257250.1:p.Tyr354Ter
XM_005257194.4:c.1062C>A XP_005257251.1:p.Tyr354Ter
NM_000152.5:c.1062C>A MANE Select NP_000143.2:p.Tyr354Ter
NM_001079803.3:c.1062C>A NP_001073271.1:p.Tyr354Ter
NM_001079804.3:c.1062C>A NP_001073272.1:p.Tyr354Ter
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