Canonical Allele Identifier: CA16041898
Gene: GAA HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 370998
ClinVar RCV Id: RCV000410649
dbSNP Id: rs1057516928

User contributed link-outs

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.80113028G>T , CM000679.2:g.80113028G>T GRCh38
NC_000017.9:g.75701422G>T NCBI36
NC_000017.10:g.78086827G>T , CM000679.1:g.78086827G>T GRCh37
NG_009822.1:g.16473G>T , LRG_673:g.16473G>T

Transcript Alleles

HGVS Amino-acid change
ENST00000302262.7:c.2040+1G>T ENSP00000305692.3:p.=
ENST00000390015.7:c.2040+1G>T ENSP00000374665.3:p.=
ENST00000570716.1:n.480+1G>T
ENST00000572080.1:n.459+1G>T
NM_000152.3:c.2040+1G>T , LRG_673t1:c.2040+1G>T NP_000143.2:p.=
NM_001079803.1:c.2040+1G>T VV NP_001073271.1:p.=
NM_001079804.1:c.2040+1G>T VV NP_001073272.1:p.=
XM_005257193.1:c.2040+1G>T XP_005257250.1:p.=
XM_005257194.3:c.2040+1G>T XP_005257251.1:p.=
NM_000152.4:c.2040+1G>T VV
NM_001079803.2:c.2040+1G>T VV
NM_001079804.2:c.2040+1G>T VV
XM_005257193.2:c.2040+1G>T
XM_005257194.4:c.2040+1G>T