Canonical Allele Identifier: CA401369909
Gene: GAA HGNC NCBI

Linked Data

MyVariant Identifiers: chr17:g.78086721C>G (hg19) chr17:g.80112922C>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.80112922C>G , CM000679.2:g.80112922C>G GRCh38
NC_000017.10:g.78086721C>G , CM000679.1:g.78086721C>G GRCh37
NC_000017.9:g.75701316C>G NCBI36
NG_009822.1:g.16367C>G , LRG_673:g.16367C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000570803.6:c.1935C>G ENSP00000460543.2:p.Asp645Glu
ENST00000572080.2:c.*73C>G ENSP00000459972.2:n.*73C>G
ENST00000577106.6:c.1935C>G ENSP00000458306.2:p.Asp645Glu
ENST00000302262.8:c.1935C>G MANE Select ENSP00000305692.3:p.Asp645Glu
ENST00000302262.7:c.1935C>G ENSP00000305692.3:p.Asp645Glu
ENST00000390015.7:c.1935C>G ENSP00000374665.3:p.Asp645Glu
ENST00000570716.1:n.375C>G
ENST00000572080.1:c.354C>G
ENST00000572803.1:n.549C>G
NM_000152.3:c.1935C>G , LRG_673t1:c.1935C>G NP_000143.2:p.Asp645Glu
NM_001079803.1:c.1935C>G NP_001073271.1:p.Asp645Glu
NM_001079804.1:c.1935C>G NP_001073272.1:p.Asp645Glu
XM_005257193.1:c.1935C>G XP_005257250.1:p.Asp645Glu
XM_005257194.3:c.1935C>G XP_005257251.1:p.Asp645Glu
NM_000152.4:c.1935C>G NP_000143.2:p.Asp645Glu
NM_001079803.2:c.1935C>G NP_001073271.1:p.Asp645Glu
NM_001079804.2:c.1935C>G NP_001073272.1:p.Asp645Glu
XM_005257193.2:c.1935C>G XP_005257250.1:p.Asp645Glu
XM_005257194.4:c.1935C>G XP_005257251.1:p.Asp645Glu
NM_000152.5:c.1935C>G MANE Select NP_000143.2:p.Asp645Glu
NM_001079803.3:c.1935C>G NP_001073271.1:p.Asp645Glu
NM_001079804.3:c.1935C>G NP_001073272.1:p.Asp645Glu
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