Canonical Allele Identifier: CA294887368
Gene: GAA HGNC NCBI

Linked Data

ClinVar Variation Id: 840069
ClinVar RCV Id: RCV001041971
dbSNP Id: rs936395356

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.80105116A>C , CM000679.2:g.80105116A>C GRCh38
NC_000017.10:g.78078915A>C , CM000679.1:g.78078915A>C GRCh37
NC_000017.9:g.75693510A>C NCBI36
NG_009822.1:g.8561A>C , LRG_673:g.8561A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000570803.6:c.530A>C ENSP00000460543.2:p.Asn177Thr
ENST00000572080.2:c.530A>C ENSP00000459972.2:p.Asn177Thr
ENST00000577106.6:c.530A>C ENSP00000458306.2:p.Asn177Thr
ENST00000302262.8:c.530A>C MANE Select ENSP00000305692.3:p.Asn177Thr
ENST00000302262.7:c.530A>C ENSP00000305692.3:p.Asn177Thr
ENST00000390015.7:c.530A>C ENSP00000374665.3:p.Asn177Thr
ENST00000570803.5:c.530A>C ENSP00000460543.1:p.Asn177Thr
ENST00000577106.5:c.530A>C ENSP00000458306.1:p.Asn177Thr
NM_000152.3:c.530A>C , LRG_673t1:c.530A>C NP_000143.2:p.Asn177Thr
NM_001079803.1:c.530A>C NP_001073271.1:p.Asn177Thr
NM_001079804.1:c.530A>C NP_001073272.1:p.Asn177Thr
XM_005257193.1:c.530A>C XP_005257250.1:p.Asn177Thr
XM_005257194.3:c.530A>C XP_005257251.1:p.Asn177Thr
NM_000152.4:c.530A>C NP_000143.2:p.Asn177Thr
NM_001079803.2:c.530A>C NP_001073271.1:p.Asn177Thr
NM_001079804.2:c.530A>C NP_001073272.1:p.Asn177Thr
XM_005257193.2:c.530A>C XP_005257250.1:p.Asn177Thr
XM_005257194.4:c.530A>C XP_005257251.1:p.Asn177Thr
NM_000152.5:c.530A>C MANE Select NP_000143.2:p.Asn177Thr
NM_001079803.3:c.530A>C NP_001073271.1:p.Asn177Thr
NM_001079804.3:c.530A>C NP_001073272.1:p.Asn177Thr