Canonical Allele Identifier: CA502178260
Gene: GAA HGNC NCBI

Linked Data

ClinVar Variation Id: 1594149
ClinVar RCV Id: RCV002105484
dbSNP Id: rs779266179
gnomAD v4: 17-80108330-G-T
MyVariant Identifiers: chr17:g.78082129G>T (hg19)
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.80108330G>T , CM000679.2:g.80108330G>T GRCh38
NC_000017.10:g.78082129G>T , CM000679.1:g.78082129G>T GRCh37
NC_000017.9:g.75696724G>T NCBI36
NG_009822.1:g.11775G>T , LRG_673:g.11775G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000570803.6:c.996G>T ENSP00000460543.2:p.Ser332=
ENST00000572080.2:c.996G>T ENSP00000459972.2:p.Ser332=
ENST00000577106.6:c.996G>T ENSP00000458306.2:p.Ser332=
ENST00000302262.8:c.996G>T MANE Select ENSP00000305692.3:p.Ser332=
ENST00000302262.7:c.996G>T ENSP00000305692.3:p.Ser332=
ENST00000390015.7:c.996G>T ENSP00000374665.3:p.Ser332=
NM_000152.3:c.996G>T , LRG_673t1:c.996G>T NP_000143.2:p.Ser332=
NM_001079803.1:c.996G>T NP_001073271.1:p.Ser332=
NM_001079804.1:c.996G>T NP_001073272.1:p.Ser332=
XM_005257193.1:c.996G>T XP_005257250.1:p.Ser332=
XM_005257194.3:c.996G>T XP_005257251.1:p.Ser332=
NM_000152.4:c.996G>T NP_000143.2:p.Ser332=
NM_001079803.2:c.996G>T NP_001073271.1:p.Ser332=
NM_001079804.2:c.996G>T NP_001073272.1:p.Ser332=
XM_005257193.2:c.996G>T XP_005257250.1:p.Ser332=
XM_005257194.4:c.996G>T XP_005257251.1:p.Ser332=
NM_000152.5:c.996G>T MANE Select NP_000143.2:p.Ser332=
NM_001079803.3:c.996G>T NP_001073271.1:p.Ser332=
NM_001079804.3:c.996G>T NP_001073272.1:p.Ser332=
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