Canonical Allele Identifier: CA145781
Community Standard Title: NM_000152.5(GAA):c.324T>C (p.Cys108=)
Gene: GAA HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.80104910T>C , CM000679.2:g.80104910T>C GRCh38
NC_000017.10:g.78078709T>C , CM000679.1:g.78078709T>C GRCh37
NC_000017.9:g.75693304T>C NCBI36
NG_009822.1:g.8355T>C , LRG_673:g.8355T>C

Transcript Alleles

HGVS Amino-acid Change
NM_000152.5:c.324T>C MANE Select NP_000143.2:p.Cys108=
ENST00000302262.8:c.324T>C MANE Select ENSP00000305692.3:p.Cys108=
NM_000152.3:c.324T>C , LRG_673t1:c.324T>C NP_000143.2:p.Cys108=
NM_000152.4:c.324T>C NP_000143.2:p.Cys108=
NM_001079803.1:c.324T>C NP_001073271.1:p.Cys108=
NM_001079803.2:c.324T>C NP_001073271.1:p.Cys108=
NM_001079803.3:c.324T>C NP_001073271.1:p.Cys108=
NM_001079804.1:c.324T>C NP_001073272.1:p.Cys108=
NM_001079804.2:c.324T>C NP_001073272.1:p.Cys108=
NM_001079804.3:c.324T>C NP_001073272.1:p.Cys108=
ENST00000302262.7:c.324T>C ENSP00000305692.3:p.Cys108=
ENST00000390015.7:c.324T>C ENSP00000374665.3:p.Cys108=
ENST00000570803.5:c.324T>C ENSP00000460543.1:p.Cys108=
ENST00000570803.6:c.324T>C ENSP00000460543.2:p.Cys108=
ENST00000572080.2:c.324T>C ENSP00000459972.2:p.Cys108=
ENST00000577106.5:c.324T>C ENSP00000458306.1:p.Cys108=
ENST00000577106.6:c.324T>C ENSP00000458306.2:p.Cys108=
XM_005257193.1:c.324T>C XP_005257250.1:p.Cys108=
XM_005257193.2:c.324T>C XP_005257250.1:p.Cys108=
XM_005257194.3:c.324T>C XP_005257251.1:p.Cys108=
XM_005257194.4:c.324T>C XP_005257251.1:p.Cys108=
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