Canonical Allele Identifier: CA294857971
Gene: GAA HGNC NCBI

Linked Data

ClinVar Variation Id: 1514233
ClinVar RCV Id: RCV002029184
dbSNP Id: rs930247743
gnomAD v2: 17-78092028-C-G
gnomAD v4: 17-80118229-C-G
MyVariant Identifiers: chr17:g.78092028C>G (hg19) chr17:g.80118229C>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.80118229C>G , CM000679.2:g.80118229C>G GRCh38
NC_000017.10:g.78092028C>G , CM000679.1:g.78092028C>G GRCh37
NC_000017.9:g.75706623C>G NCBI36
NG_009822.1:g.21674C>G , LRG_673:g.21674C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000570803.6:c.2518C>G ENSP00000460543.2:p.Pro840Ala
ENST00000572080.2:c.*656C>G ENSP00000459972.2:n.*656C>G
ENST00000577106.6:c.2518C>G ENSP00000458306.2:p.Pro840Ala
ENST00000302262.8:c.2518C>G MANE Select ENSP00000305692.3:p.Pro840Ala
ENST00000302262.7:c.2518C>G ENSP00000305692.3:p.Pro840Ala
ENST00000390015.7:c.2518C>G ENSP00000374665.3:p.Pro840Ala
ENST00000573556.1:n.471C>G
NM_000152.3:c.2518C>G , LRG_673t1:c.2518C>G NP_000143.2:p.Pro840Ala
NM_001079803.1:c.2518C>G NP_001073271.1:p.Pro840Ala
NM_001079804.1:c.2518C>G NP_001073272.1:p.Pro840Ala
XM_005257193.1:c.2518C>G XP_005257250.1:p.Pro840Ala
XM_005257194.3:c.2518C>G XP_005257251.1:p.Pro840Ala
NM_000152.4:c.2518C>G NP_000143.2:p.Pro840Ala
NM_001079803.2:c.2518C>G NP_001073271.1:p.Pro840Ala
NM_001079804.2:c.2518C>G NP_001073272.1:p.Pro840Ala
XM_005257193.2:c.2518C>G XP_005257250.1:p.Pro840Ala
XM_005257194.4:c.2518C>G XP_005257251.1:p.Pro840Ala
NM_000152.5:c.2518C>G MANE Select NP_000143.2:p.Pro840Ala
NM_001079803.3:c.2518C>G NP_001073271.1:p.Pro840Ala
NM_001079804.3:c.2518C>G NP_001073272.1:p.Pro840Ala
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