Canonical Allele Identifier: CA2734098195

Gene: GAA

Linked Data

• ClinVar Variation Id: 3030825
• ClinVar RCV Id: RCV003893978
• dbSNP Id: rs2143806346

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.80101612G>C , CM000679.2:g.80101612G>C	GRCh38
NC_000017.10:g.78075411G>C , CM000679.1:g.78075411G>C	GRCh37
NC_000017.9:g.75690006G>C	NCBI36
NG_009822.1:g.5057G>C , LRG_673:g.5057G>C
NG_029761.1:g.69981G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000570803.6:c.-46G>C	ENSP00000460543.2:n.-46G>C
ENST00000572080.2:c.-126G>C	ENSP00000459972.2:n.-126G>C
ENST00000577106.6:c.-161G>C	ENSP00000458306.2:n.-161G>C
ENST00000302262.8:c.-311G>C MANE Select	ENSP00000305692.3:n.-311G>C
ENST00000390015.7:c.-126G>C	ENSP00000374665.3:n.-126G>C
ENST00000570803.5:c.-46G>C	ENSP00000460543.1:n.-46G>C
ENST00000574376.1:n.16G>C
ENST00000577106.5:c.-161G>C	ENSP00000458306.1:n.-161G>C
NM_000152.3:c.-311G>C , LRG_673t1:c.-311G>C	NP_000143.2:n.-311G>C
NM_001079803.1:c.-126G>C	NP_001073271.1:n.-126G>C
NM_001079804.1:c.-46G>C	NP_001073272.1:n.-46G>C
XM_005257194.3:c.-161G>C	XP_005257251.1:n.-161G>C
NM_000152.4:c.-311G>C	NP_000143.2:n.-311G>C
NM_001079803.2:c.-126G>C	NP_001073271.1:n.-126G>C
NM_001079804.2:c.-46G>C	NP_001073272.1:n.-46G>C
NR_134848.1:n.87G>C
XM_005257194.4:c.-161G>C	XP_005257251.1:n.-161G>C
NM_000152.5:c.-311G>C MANE Select	NP_000143.2:n.-311G>C
NM_001079803.3:c.-126G>C	NP_001073271.1:n.-126G>C
NM_001079804.3:c.-46G>C	NP_001073272.1:n.-46G>C
NR_134848.2:n.32G>C