Canonical Allele Identifier: CA2277811249
Gene: GAA HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.80105809C= , CM000679.2:g.80105809C= GRCh38
NC_000017.10:g.78079608C= , CM000679.1:g.78079608C= GRCh37
NC_000017.9:g.75694203C= NCBI36
NG_009822.1:g.9254C= , LRG_673:g.9254C=

Transcript Alleles

HGVS Amino-acid change
ENST00000570803.6:c.607C= ENSP00000460543.2:p.Arg203=
ENST00000572080.2:c.607C= ENSP00000459972.2:p.Arg203=
ENST00000577106.6:c.607C= ENSP00000458306.2:p.Arg203=
ENST00000302262.8:c.607C= MANE Select ENSP00000305692.3:p.Arg203=
ENST00000302262.7:c.607C= ENSP00000305692.3:p.Arg203=
ENST00000390015.7:c.607C= ENSP00000374665.3:p.Arg203=
ENST00000570803.5:c.607C= ENSP00000460543.1:p.Arg203=
ENST00000577106.5:c.607C= ENSP00000458306.1:p.Arg203=
NM_000152.3:c.607C= , LRG_673t1:c.607C= NP_000143.2:p.Arg203=
NM_001079803.1:c.607C= NP_001073271.1:p.Arg203=
NM_001079804.1:c.607C= NP_001073272.1:p.Arg203=
XM_005257193.1:c.607C= XP_005257250.1:p.Arg203=
XM_005257194.3:c.607C= XP_005257251.1:p.Arg203=
NM_000152.4:c.607C= NP_000143.2:p.Arg203=
NM_001079803.2:c.607C= NP_001073271.1:p.Arg203=
NM_001079804.2:c.607C= NP_001073272.1:p.Arg203=
XM_005257193.2:c.607C= XP_005257250.1:p.Arg203=
XM_005257194.4:c.607C= XP_005257251.1:p.Arg203=
NM_000152.5:c.607C= MANE Select NP_000143.2:p.Arg203=
NM_001079803.3:c.607C= NP_001073271.1:p.Arg203=
NM_001079804.3:c.607C= NP_001073272.1:p.Arg203=