Canonical Allele Identifier: CA8815140

Gene: GAA

Linked Data

• ClinVar Variation Id: 291212
• ClinVar RCV Id: RCV000285215 ; RCV001087978 ; RCV000726676
• dbSNP Id: rs751918816
• ExAC: 17:78082217 T / C
• gnomAD v2: 17-78082217-T-C
• gnomAD v3: 17-80108418-T-C
• gnomAD v4: 17-80108418-T-C
• MyVariant Identifiers: chr17:g.78082217T>C (hg19) ; chr17:g.80108418T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.80108418T>C , CM000679.2:g.80108418T>C	GRCh38
NC_000017.10:g.78082217T>C , CM000679.1:g.78082217T>C	GRCh37
NC_000017.9:g.75696812T>C	NCBI36
NG_009822.1:g.11863T>C , LRG_673:g.11863T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000570803.6:c.1075+9T>C	ENSP00000460543.2:n.1075+9T>C
ENST00000572080.2:c.1075+9T>C	ENSP00000459972.2:n.1075+9T>C
ENST00000577106.6:c.1075+9T>C	ENSP00000458306.2:n.1075+9T>C
ENST00000302262.8:c.1075+9T>C MANE Select	ENSP00000305692.3:n.1075+9T>C
ENST00000302262.7:c.1075+9T>C	ENSP00000305692.3:n.1075+9T>C
ENST00000390015.7:c.1075+9T>C	ENSP00000374665.3:n.1075+9T>C
NM_000152.3:c.1075+9T>C , LRG_673t1:c.1075+9T>C	NP_000143.2:n.1075+9T>C
NM_001079803.1:c.1075+9T>C	NP_001073271.1:n.1075+9T>C
NM_001079804.1:c.1075+9T>C	NP_001073272.1:n.1075+9T>C
XM_005257193.1:c.1075+9T>C	XP_005257250.1:n.1075+9T>C
XM_005257194.3:c.1075+9T>C	XP_005257251.1:n.1075+9T>C
NM_000152.4:c.1075+9T>C	NP_000143.2:n.1075+9T>C
NM_001079803.2:c.1075+9T>C	NP_001073271.1:n.1075+9T>C
NM_001079804.2:c.1075+9T>C	NP_001073272.1:n.1075+9T>C
XM_005257193.2:c.1075+9T>C	XP_005257250.1:n.1075+9T>C
XM_005257194.4:c.1075+9T>C	XP_005257251.1:n.1075+9T>C
NM_000152.5:c.1075+9T>C MANE Select	NP_000143.2:n.1075+9T>C
NM_001079803.3:c.1075+9T>C	NP_001073271.1:n.1075+9T>C
NM_001079804.3:c.1075+9T>C	NP_001073272.1:n.1075+9T>C