Canonical Allele Identifier: CA274247

Gene: GAA

Linked Data

• ClinVar Variation Id: 189007
• ClinVar RCV Id: RCV000169391 ; RCV002223801
• dbSNP Id: rs772883420
• ExAC: 17:78084529 T / C
• gnomAD v2: 17-78084529-T-C
• gnomAD v3: 17-80110730-T-C
• gnomAD v4: 17-80110730-T-C
• MyVariant Identifiers: chr17:g.78084529T>C (hg19) ; chr17:g.80110730T>C (hg38)
• ERepo: CA274247/MONDO:0009290/010
• PubMed: PMID:10189220 ; PMID:14695532 ; PMID:15501829 ; PMID:16580018 ; PMID:18757064 ; PMID:19862843 ; PMID:21228398 ; PMID:22676651

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.80110730T>C , CM000679.2:g.80110730T>C	GRCh38
NC_000017.10:g.78084529T>C , CM000679.1:g.78084529T>C	GRCh37
NC_000017.9:g.75699124T>C	NCBI36
NG_009822.1:g.14175T>C , LRG_673:g.14175T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000570803.6:c.1441T>C	ENSP00000460543.2:p.Trp481Arg
ENST00000572080.2:c.1441T>C	ENSP00000459972.2:p.Trp481Arg
ENST00000577106.6:c.1441T>C	ENSP00000458306.2:p.Trp481Arg
ENST00000302262.8:c.1441T>C MANE Select	ENSP00000305692.3:p.Trp481Arg
ENST00000302262.7:c.1441T>C	ENSP00000305692.3:p.Trp481Arg
ENST00000390015.7:c.1441T>C	ENSP00000374665.3:p.Trp481Arg
NM_000152.3:c.1441T>C , LRG_673t1:c.1441T>C	NP_000143.2:p.Trp481Arg
NM_001079803.1:c.1441T>C	NP_001073271.1:p.Trp481Arg
NM_001079804.1:c.1441T>C	NP_001073272.1:p.Trp481Arg
XM_005257193.1:c.1441T>C	XP_005257250.1:p.Trp481Arg
XM_005257194.3:c.1441T>C	XP_005257251.1:p.Trp481Arg
NM_000152.4:c.1441T>C	NP_000143.2:p.Trp481Arg
NM_001079803.2:c.1441T>C	NP_001073271.1:p.Trp481Arg
NM_001079804.2:c.1441T>C	NP_001073272.1:p.Trp481Arg
XM_005257193.2:c.1441T>C	XP_005257250.1:p.Trp481Arg
XM_005257194.4:c.1441T>C	XP_005257251.1:p.Trp481Arg
NM_000152.5:c.1441T>C MANE Select	NP_000143.2:p.Trp481Arg
NM_001079803.3:c.1441T>C	NP_001073271.1:p.Trp481Arg
NM_001079804.3:c.1441T>C	NP_001073272.1:p.Trp481Arg