Canonical Allele Identifier: CA627697923

Gene: GAA

Linked Data

• dbSNP Id: rs1440701677
• gnomAD v2: 17-78075398-G-C
• gnomAD v3: 17-80101599-G-C
• gnomAD v4: 17-80101599-G-C
• MyVariant Identifiers: chr17:g.78075398G>C (hg19) ; chr17:g.80101599G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.80101599G>C , CM000679.2:g.80101599G>C	GRCh38
NC_000017.10:g.78075398G>C , CM000679.1:g.78075398G>C	GRCh37
NC_000017.9:g.75689993G>C	NCBI36
NG_009822.1:g.5044G>C , LRG_673:g.5044G>C
NG_029761.1:g.69968G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000570803.6:c.-59G>C	ENSP00000460543.2:n.-59G>C
ENST00000572080.2:c.-139G>C	ENSP00000459972.2:n.-139G>C
ENST00000577106.6:c.-174G>C	ENSP00000458306.2:n.-174G>C
ENST00000302262.8:c.-324G>C MANE Select	ENSP00000305692.3:n.-324G>C
ENST00000390015.7:c.-139G>C	ENSP00000374665.3:n.-139G>C
ENST00000570803.5:c.-59G>C	ENSP00000460543.1:n.-59G>C
ENST00000574376.1:n.3G>C
ENST00000577106.5:c.-174G>C	ENSP00000458306.1:n.-174G>C
NM_000152.3:c.-324G>C , LRG_673t1:c.-324G>C	NP_000143.2:n.-324G>C
NM_001079803.1:c.-139G>C	NP_001073271.1:n.-139G>C
NM_001079804.1:c.-59G>C	NP_001073272.1:n.-59G>C
XM_005257194.3:c.-174G>C	XP_005257251.1:n.-174G>C
NM_000152.4:c.-324G>C	NP_000143.2:n.-324G>C
NM_001079803.2:c.-139G>C	NP_001073271.1:n.-139G>C
NM_001079804.2:c.-59G>C	NP_001073272.1:n.-59G>C
NR_134848.1:n.74G>C
XM_005257194.4:c.-174G>C	XP_005257251.1:n.-174G>C
NM_000152.5:c.-324G>C MANE Select	NP_000143.2:n.-324G>C
NM_001079803.3:c.-139G>C	NP_001073271.1:n.-139G>C
NM_001079804.3:c.-59G>C	NP_001073272.1:n.-59G>C
NR_134848.2:n.19G>C