Canonical Allele Identifier: CA627697911

Gene: GAA

Linked Data

• dbSNP Id: rs1327605780
• gnomAD v2: 17-78075330-G-A
• gnomAD v3: 17-80101531-G-A
• gnomAD v4: 17-80101531-G-A
• MyVariant Identifiers: chr17:g.78075330G>A (hg19) ; chr17:g.80101531G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.80101531G>A , CM000679.2:g.80101531G>A	GRCh38
NC_000017.10:g.78075330G>A , CM000679.1:g.78075330G>A	GRCh37
NC_000017.9:g.75689925G>A	NCBI36
NG_009822.1:g.4976G>A , LRG_673:g.4976G>A
NG_029761.1:g.69900G>A

Transcript Alleles

HGVS	Amino-acid change
XM_005257194.3:c.-242G>A	XP_005257251.1:n.-242G>A
NM_000152.4:c.-392G>A	NP_000143.2:n.-392G>A
NM_001079803.2:c.-207G>A	NP_001073271.1:n.-207G>A
NM_001079804.2:c.-127G>A	NP_001073272.1:n.-127G>A
NR_134848.1:n.6G>A