Canonical Allele Identifier: CA8815554
Community Standard Title: NM_000152.5(GAA):c.1941C>G (p.Cys647Trp)
Gene: GAA HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.80112928C>G , CM000679.2:g.80112928C>G GRCh38
NC_000017.10:g.78086727C>G , CM000679.1:g.78086727C>G GRCh37
NC_000017.9:g.75701322C>G NCBI36
NG_009822.1:g.16373C>G , LRG_673:g.16373C>G

Transcript Alleles

HGVS Amino-acid Change
NM_000152.5:c.1941C>G MANE Select NP_000143.2:p.Cys647Trp
ENST00000302262.8:c.1941C>G MANE Select ENSP00000305692.3:p.Cys647Trp
NM_000152.3:c.1941C>G , LRG_673t1:c.1941C>G NP_000143.2:p.Cys647Trp
NM_000152.4:c.1941C>G NP_000143.2:p.Cys647Trp
NM_001079803.1:c.1941C>G NP_001073271.1:p.Cys647Trp
NM_001079803.2:c.1941C>G NP_001073271.1:p.Cys647Trp
NM_001079803.3:c.1941C>G NP_001073271.1:p.Cys647Trp
NM_001079804.1:c.1941C>G NP_001073272.1:p.Cys647Trp
NM_001079804.2:c.1941C>G NP_001073272.1:p.Cys647Trp
NM_001079804.3:c.1941C>G NP_001073272.1:p.Cys647Trp
ENST00000302262.7:c.1941C>G ENSP00000305692.3:p.Cys647Trp
ENST00000390015.7:c.1941C>G ENSP00000374665.3:p.Cys647Trp
ENST00000570716.1:n.381C>G
ENST00000570803.6:c.1941C>G ENSP00000460543.2:p.Cys647Trp
ENST00000572080.1:c.360C>G
ENST00000572080.2:c.*79C>G ENSP00000459972.2:n.*79C>G
ENST00000572803.1:n.555C>G
ENST00000577106.6:c.1941C>G ENSP00000458306.2:p.Cys647Trp
XM_005257193.1:c.1941C>G XP_005257250.1:p.Cys647Trp
XM_005257193.2:c.1941C>G XP_005257250.1:p.Cys647Trp
XM_005257194.3:c.1941C>G XP_005257251.1:p.Cys647Trp
XM_005257194.4:c.1941C>G XP_005257251.1:p.Cys647Trp
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