Canonical Allele Identifier: CA274256

Gene: GAA

Linked Data

• ClinVar Variation Id: 189013
• ClinVar RCV Id: RCV000169400 ; RCV003488416
• dbSNP Id: rs368438393
• ExAC: 17:78086719 G / C
• gnomAD v2: 17-78086719-G-C
• MyVariant Identifiers: chr17:g.78086719G>C (hg19) ; chr17:g.80112920G>C (hg38)
• PubMed: PMID:7695647 ; PMID:12897283 ; PMID:19862843

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.80112920G>C , CM000679.2:g.80112920G>C	GRCh38
NC_000017.10:g.78086719G>C , CM000679.1:g.78086719G>C	GRCh37
NC_000017.9:g.75701314G>C	NCBI36
NG_009822.1:g.16365G>C , LRG_673:g.16365G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000570803.6:c.1933G>C	ENSP00000460543.2:p.Asp645His
ENST00000572080.2:c.*71G>C	ENSP00000459972.2:n.*71G>C
ENST00000577106.6:c.1933G>C	ENSP00000458306.2:p.Asp645His
ENST00000302262.8:c.1933G>C MANE Select	ENSP00000305692.3:p.Asp645His
ENST00000302262.7:c.1933G>C	ENSP00000305692.3:p.Asp645His
ENST00000390015.7:c.1933G>C	ENSP00000374665.3:p.Asp645His
ENST00000570716.1:n.373G>C
ENST00000572080.1:c.352G>C
ENST00000572803.1:n.547G>C
NM_000152.3:c.1933G>C , LRG_673t1:c.1933G>C	NP_000143.2:p.Asp645His
NM_001079803.1:c.1933G>C	NP_001073271.1:p.Asp645His
NM_001079804.1:c.1933G>C	NP_001073272.1:p.Asp645His
XM_005257193.1:c.1933G>C	XP_005257250.1:p.Asp645His
XM_005257194.3:c.1933G>C	XP_005257251.1:p.Asp645His
NM_000152.4:c.1933G>C	NP_000143.2:p.Asp645His
NM_001079803.2:c.1933G>C	NP_001073271.1:p.Asp645His
NM_001079804.2:c.1933G>C	NP_001073272.1:p.Asp645His
XM_005257193.2:c.1933G>C	XP_005257250.1:p.Asp645His
XM_005257194.4:c.1933G>C	XP_005257251.1:p.Asp645His
NM_000152.5:c.1933G>C MANE Select	NP_000143.2:p.Asp645His
NM_001079803.3:c.1933G>C	NP_001073271.1:p.Asp645His
NM_001079804.3:c.1933G>C	NP_001073272.1:p.Asp645His