Canonical Allele Identifier: CA1139665914

Gene: GAA

Linked Data

• ClinVar Variation Id: 890550
• ClinVar RCV Id: RCV001125211 ; RCV001125212
• dbSNP Id: rs1402918119

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.80101598C>T , CM000679.2:g.80101598C>T	GRCh38
NC_000017.10:g.78075397C>T , CM000679.1:g.78075397C>T	GRCh37
NC_000017.9:g.75689992C>T	NCBI36
NG_009822.1:g.5043C>T , LRG_673:g.5043C>T
NG_029761.1:g.69967C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000570803.6:c.-60C>T	ENSP00000460543.2:n.-60C>T
ENST00000572080.2:c.-140C>T	ENSP00000459972.2:n.-140C>T
ENST00000577106.6:c.-175C>T	ENSP00000458306.2:n.-175C>T
ENST00000302262.8:c.-325C>T MANE Select	ENSP00000305692.3:n.-325C>T
ENST00000390015.7:c.-140C>T	ENSP00000374665.3:n.-140C>T
ENST00000570803.5:c.-60C>T	ENSP00000460543.1:n.-60C>T
ENST00000574376.1:n.2C>T
ENST00000577106.5:c.-175C>T	ENSP00000458306.1:n.-175C>T
NM_000152.3:c.-325C>T , LRG_673t1:c.-325C>T	NP_000143.2:n.-325C>T
NM_001079803.1:c.-140C>T	NP_001073271.1:n.-140C>T
NM_001079804.1:c.-60C>T	NP_001073272.1:n.-60C>T
XM_005257194.3:c.-175C>T	XP_005257251.1:n.-175C>T
NM_000152.4:c.-325C>T	NP_000143.2:n.-325C>T
NM_001079803.2:c.-140C>T	NP_001073271.1:n.-140C>T
NM_001079804.2:c.-60C>T	NP_001073272.1:n.-60C>T
NR_134848.1:n.73C>T
XM_005257194.4:c.-175C>T	XP_005257251.1:n.-175C>T
NM_000152.5:c.-325C>T MANE Select	NP_000143.2:n.-325C>T
NM_001079803.3:c.-140C>T	NP_001073271.1:n.-140C>T
NM_001079804.3:c.-60C>T	NP_001073272.1:n.-60C>T
NR_134848.2:n.18C>T