Canonical Allele Identifier: CA775505854

Gene: GAA

Linked Data

• dbSNP Id: rs1333784638
• gnomAD v3: 17-80101552-C-T
• gnomAD v4: 17-80101552-C-T
• MyVariant Identifiers: chr17:g.78075351C>T (hg19) ; chr17:g.80101552C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.80101552C>T , CM000679.2:g.80101552C>T	GRCh38
NC_000017.10:g.78075351C>T , CM000679.1:g.78075351C>T	GRCh37
NC_000017.9:g.75689946C>T	NCBI36
NG_009822.1:g.4997C>T , LRG_673:g.4997C>T
NG_029761.1:g.69921C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000570803.6:c.-106C>T	ENSP00000460543.2:n.-106C>T
XM_005257194.3:c.-221C>T	XP_005257251.1:n.-221C>T
NM_000152.4:c.-371C>T	NP_000143.2:n.-371C>T
NM_001079803.2:c.-186C>T	NP_001073271.1:n.-186C>T
NM_001079804.2:c.-106C>T	NP_001073272.1:n.-106C>T
NR_134848.1:n.27C>T
XM_005257194.4:c.-221C>T	XP_005257251.1:n.-221C>T