Canonical Allele Identifier: CA8814937
Gene: GAA HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.80105795C>T , CM000679.2:g.80105795C>T GRCh38
NC_000017.10:g.78079594C>T , CM000679.1:g.78079594C>T GRCh37
NC_000017.9:g.75694189C>T NCBI36
NG_009822.1:g.9240C>T , LRG_673:g.9240C>T

Transcript Alleles

HGVS Amino-acid Change
NM_000152.5:c.593C>T MANE Select NP_000143.2:p.Pro198Leu
ENST00000302262.8:c.593C>T MANE Select ENSP00000305692.3:p.Pro198Leu
NM_000152.3:c.593C>T , LRG_673t1:c.593C>T NP_000143.2:p.Pro198Leu
NM_000152.4:c.593C>T NP_000143.2:p.Pro198Leu
NM_001079803.1:c.593C>T NP_001073271.1:p.Pro198Leu
NM_001079803.2:c.593C>T NP_001073271.1:p.Pro198Leu
NM_001079803.3:c.593C>T NP_001073271.1:p.Pro198Leu
NM_001079804.1:c.593C>T NP_001073272.1:p.Pro198Leu
NM_001079804.2:c.593C>T NP_001073272.1:p.Pro198Leu
NM_001079804.3:c.593C>T NP_001073272.1:p.Pro198Leu
ENST00000302262.7:c.593C>T ENSP00000305692.3:p.Pro198Leu
ENST00000390015.7:c.593C>T ENSP00000374665.3:p.Pro198Leu
ENST00000570803.5:c.593C>T ENSP00000460543.1:p.Pro198Leu
ENST00000570803.6:c.593C>T ENSP00000460543.2:p.Pro198Leu
ENST00000572080.2:c.593C>T ENSP00000459972.2:p.Pro198Leu
ENST00000577106.5:c.593C>T ENSP00000458306.1:p.Pro198Leu
ENST00000577106.6:c.593C>T ENSP00000458306.2:p.Pro198Leu
XM_005257193.1:c.593C>T XP_005257250.1:p.Pro198Leu
XM_005257193.2:c.593C>T XP_005257250.1:p.Pro198Leu
XM_005257194.3:c.593C>T XP_005257251.1:p.Pro198Leu
XM_005257194.4:c.593C>T XP_005257251.1:p.Pro198Leu
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