Canonical Allele Identifier: CA8815512
Community Standard Title: NM_000152.5(GAA):c.1888+5G>T
Gene: GAA HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.80112716G>T , CM000679.2:g.80112716G>T GRCh38
NC_000017.10:g.78086515G>T , CM000679.1:g.78086515G>T GRCh37
NC_000017.9:g.75701110G>T NCBI36
NG_009822.1:g.16161G>T , LRG_673:g.16161G>T

Transcript Alleles

HGVS Amino-acid Change
NM_000152.5:c.1888+5G>T MANE Select NP_000143.2:n.1888+5G>T
ENST00000302262.8:c.1888+5G>T MANE Select ENSP00000305692.3:n.1888+5G>T
NM_000152.3:c.1888+5G>T , LRG_673t1:c.1888+5G>T NP_000143.2:n.1888+5G>T
NM_000152.4:c.1888+5G>T NP_000143.2:n.1888+5G>T
NM_001079803.1:c.1888+5G>T NP_001073271.1:n.1888+5G>T
NM_001079803.2:c.1888+5G>T NP_001073271.1:n.1888+5G>T
NM_001079803.3:c.1888+5G>T NP_001073271.1:n.1888+5G>T
NM_001079804.1:c.1888+5G>T NP_001073272.1:n.1888+5G>T
NM_001079804.2:c.1888+5G>T NP_001073272.1:n.1888+5G>T
NM_001079804.3:c.1888+5G>T NP_001073272.1:n.1888+5G>T
ENST00000302262.7:c.1888+5G>T ENSP00000305692.3:n.1888+5G>T
ENST00000390015.7:c.1888+5G>T ENSP00000374665.3:n.1888+5G>T
ENST00000570716.1:n.328+5G>T
ENST00000570803.6:c.1888+5G>T ENSP00000460543.2:n.1888+5G>T
ENST00000572080.1:c.276+5G>T
ENST00000572080.2:c.1888+5G>T ENSP00000459972.2:n.1888+5G>T
ENST00000572803.1:n.502+5G>T
ENST00000577106.6:c.1888+5G>T ENSP00000458306.2:n.1888+5G>T
XM_005257193.1:c.1888+5G>T XP_005257250.1:n.1888+5G>T
XM_005257193.2:c.1888+5G>T XP_005257250.1:n.1888+5G>T
XM_005257194.3:c.1888+5G>T XP_005257251.1:n.1888+5G>T
XM_005257194.4:c.1888+5G>T XP_005257251.1:n.1888+5G>T
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