Canonical Allele Identifier: CA274228
Gene: GAA HGNC NCBI

Linked Data

ClinVar Variation Id: 188996
ClinVar RCV Id: RCV000169376
dbSNP Id: rs786204614
MyVariant Identifiers: chr17:g.78078728C>T (hg19) chr17:g.80104929C>T (hg38)
PubMed: PMID:8435067 PMID:17041744 PMID:17616415
ERepo: CA274228/MONDO:0009290/010
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.80104929C>T , CM000679.2:g.80104929C>T GRCh38
NC_000017.10:g.78078728C>T , CM000679.1:g.78078728C>T GRCh37
NC_000017.9:g.75693323C>T NCBI36
NG_009822.1:g.8374C>T , LRG_673:g.8374C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000570803.6:c.343C>T ENSP00000460543.2:p.Gln115Ter
ENST00000572080.2:c.343C>T ENSP00000459972.2:p.Gln115Ter
ENST00000577106.6:c.343C>T ENSP00000458306.2:p.Gln115Ter
ENST00000302262.8:c.343C>T MANE Select ENSP00000305692.3:p.Gln115Ter
ENST00000302262.7:c.343C>T ENSP00000305692.3:p.Gln115Ter
ENST00000390015.7:c.343C>T ENSP00000374665.3:p.Gln115Ter
ENST00000570803.5:c.343C>T ENSP00000460543.1:p.Gln115Ter
ENST00000577106.5:c.343C>T ENSP00000458306.1:p.Gln115Ter
NM_000152.3:c.343C>T , LRG_673t1:c.343C>T NP_000143.2:p.Gln115Ter
NM_001079803.1:c.343C>T NP_001073271.1:p.Gln115Ter
NM_001079804.1:c.343C>T NP_001073272.1:p.Gln115Ter
XM_005257193.1:c.343C>T XP_005257250.1:p.Gln115Ter
XM_005257194.3:c.343C>T XP_005257251.1:p.Gln115Ter
NM_000152.4:c.343C>T NP_000143.2:p.Gln115Ter
NM_001079803.2:c.343C>T NP_001073271.1:p.Gln115Ter
NM_001079804.2:c.343C>T NP_001073272.1:p.Gln115Ter
XM_005257193.2:c.343C>T XP_005257250.1:p.Gln115Ter
XM_005257194.4:c.343C>T XP_005257251.1:p.Gln115Ter
NM_000152.5:c.343C>T MANE Select NP_000143.2:p.Gln115Ter
NM_001079803.3:c.343C>T NP_001073271.1:p.Gln115Ter
NM_001079804.3:c.343C>T NP_001073272.1:p.Gln115Ter
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