Canonical Allele Identifier: CA2277809016

Gene: GAA

Linked Data

• dbSNP Id: rs1394655302
• gnomAD v3: 17-80101622-G-C
• gnomAD v4: 17-80101622-G-C

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.80101622G>C , CM000679.2:g.80101622G>C	GRCh38
NC_000017.10:g.78075421G>C , CM000679.1:g.78075421G>C	GRCh37
NC_000017.9:g.75690016G>C	NCBI36
NG_009822.1:g.5067G>C , LRG_673:g.5067G>C
NG_029761.1:g.69991G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000570803.6:c.-36G>C	ENSP00000460543.2:n.-36G>C
ENST00000572080.2:c.-116G>C	ENSP00000459972.2:n.-116G>C
ENST00000577106.6:c.-151G>C	ENSP00000458306.2:n.-151G>C
ENST00000302262.8:c.-301G>C MANE Select	ENSP00000305692.3:n.-301G>C
ENST00000390015.7:c.-116G>C	ENSP00000374665.3:n.-116G>C
ENST00000570803.5:c.-36G>C	ENSP00000460543.1:n.-36G>C
ENST00000574376.1:n.26G>C
ENST00000577106.5:c.-151G>C	ENSP00000458306.1:n.-151G>C
NM_000152.3:c.-301G>C , LRG_673t1:c.-301G>C	NP_000143.2:n.-301G>C
NM_001079803.1:c.-116G>C	NP_001073271.1:n.-116G>C
NM_001079804.1:c.-36G>C	NP_001073272.1:n.-36G>C
XM_005257193.1:c.-211G>C	XP_005257250.1:n.-211G>C
XM_005257194.3:c.-151G>C	XP_005257251.1:n.-151G>C
NM_000152.4:c.-301G>C	NP_000143.2:n.-301G>C
NM_001079803.2:c.-116G>C	NP_001073271.1:n.-116G>C
NM_001079804.2:c.-36G>C	NP_001073272.1:n.-36G>C
NR_134848.1:n.97G>C
XM_005257194.4:c.-151G>C	XP_005257251.1:n.-151G>C
NM_000152.5:c.-301G>C MANE Select	NP_000143.2:n.-301G>C
NM_001079803.3:c.-116G>C	NP_001073271.1:n.-116G>C
NM_001079804.3:c.-36G>C	NP_001073272.1:n.-36G>C
NR_134848.2:n.42G>C