Canonical Allele Identifier: CA401360986
Gene: GAA HGNC NCBI

Linked Data

ClinVar Variation Id: 842137
ClinVar RCV Id: RCV001044505
dbSNP Id: rs2039041547
MyVariant Identifiers: chr17:g.78078768T>C (hg19) chr17:g.80104969T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.80104969T>C , CM000679.2:g.80104969T>C GRCh38
NC_000017.10:g.78078768T>C , CM000679.1:g.78078768T>C GRCh37
NC_000017.9:g.75693363T>C NCBI36
NG_009822.1:g.8414T>C , LRG_673:g.8414T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000570803.6:c.383T>C ENSP00000460543.2:p.Phe128Ser
ENST00000572080.2:c.383T>C ENSP00000459972.2:p.Phe128Ser
ENST00000577106.6:c.383T>C ENSP00000458306.2:p.Phe128Ser
ENST00000302262.8:c.383T>C MANE Select ENSP00000305692.3:p.Phe128Ser
ENST00000302262.7:c.383T>C ENSP00000305692.3:p.Phe128Ser
ENST00000390015.7:c.383T>C ENSP00000374665.3:p.Phe128Ser
ENST00000570803.5:c.383T>C ENSP00000460543.1:p.Phe128Ser
ENST00000577106.5:c.383T>C ENSP00000458306.1:p.Phe128Ser
NM_000152.3:c.383T>C , LRG_673t1:c.383T>C NP_000143.2:p.Phe128Ser
NM_001079803.1:c.383T>C NP_001073271.1:p.Phe128Ser
NM_001079804.1:c.383T>C NP_001073272.1:p.Phe128Ser
XM_005257193.1:c.383T>C XP_005257250.1:p.Phe128Ser
XM_005257194.3:c.383T>C XP_005257251.1:p.Phe128Ser
NM_000152.4:c.383T>C NP_000143.2:p.Phe128Ser
NM_001079803.2:c.383T>C NP_001073271.1:p.Phe128Ser
NM_001079804.2:c.383T>C NP_001073272.1:p.Phe128Ser
XM_005257193.2:c.383T>C XP_005257250.1:p.Phe128Ser
XM_005257194.4:c.383T>C XP_005257251.1:p.Phe128Ser
NM_000152.5:c.383T>C MANE Select NP_000143.2:p.Phe128Ser
NM_001079803.3:c.383T>C NP_001073271.1:p.Phe128Ser
NM_001079804.3:c.383T>C NP_001073272.1:p.Phe128Ser
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