Canonical Allele Identifier: CA2277814227
Gene: GAA HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.80111014C= , CM000679.2:g.80111014C= GRCh38
NC_000017.10:g.78084813C= , CM000679.1:g.78084813C= GRCh37
NC_000017.9:g.75699408C= NCBI36
NG_009822.1:g.14459C= , LRG_673:g.14459C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000570803.6:c.1625C= ENSP00000460543.2:p.Pro542=
ENST00000572080.2:c.1625C= ENSP00000459972.2:p.Pro542=
ENST00000577106.6:c.1625C= ENSP00000458306.2:p.Pro542=
ENST00000302262.8:c.1625C= MANE Select ENSP00000305692.3:p.Pro542=
ENST00000302262.7:c.1625C= ENSP00000305692.3:p.Pro542=
ENST00000390015.7:c.1625C= ENSP00000374665.3:p.Pro542=
ENST00000572080.1:c.13C=
NM_000152.3:c.1625C= , LRG_673t1:c.1625C= NP_000143.2:p.Pro542=
NM_001079803.1:c.1625C= NP_001073271.1:p.Pro542=
NM_001079804.1:c.1625C= NP_001073272.1:p.Pro542=
XM_005257193.1:c.1625C= XP_005257250.1:p.Pro542=
XM_005257194.3:c.1625C= XP_005257251.1:p.Pro542=
NM_000152.4:c.1625C= NP_000143.2:p.Pro542=
NM_001079803.2:c.1625C= NP_001073271.1:p.Pro542=
NM_001079804.2:c.1625C= NP_001073272.1:p.Pro542=
XM_005257193.2:c.1625C= XP_005257250.1:p.Pro542=
XM_005257194.4:c.1625C= XP_005257251.1:p.Pro542=
NM_000152.5:c.1625C= MANE Select NP_000143.2:p.Pro542=
NM_001079803.3:c.1625C= NP_001073271.1:p.Pro542=
NM_001079804.3:c.1625C= NP_001073272.1:p.Pro542=
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