Canonical Allele Identifier: CA8815025
Gene: GAA HGNC NCBI

Linked Data

ClinVar Variation Id: 283894
ClinVar RCV Id: RCV000319725 RCV000535428
dbSNP Id: rs142967546
ExAC: 17:78081504 C / T
gnomAD v2: 17-78081504-C-T
gnomAD v3: 17-80107705-C-T
gnomAD v4: 17-80107705-C-T
MyVariant Identifiers: chr17:g.78081504C>T (hg19) chr17:g.80107705C>T (hg38)
ERepo: CA8815025/MONDO:0009290/010
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.80107705C>T , CM000679.2:g.80107705C>T GRCh38
NC_000017.10:g.78081504C>T , CM000679.1:g.78081504C>T GRCh37
NC_000017.9:g.75696099C>T NCBI36
NG_009822.1:g.11150C>T , LRG_673:g.11150C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000570803.6:c.841C>T ENSP00000460543.2:p.Arg281Trp
ENST00000572080.2:c.841C>T ENSP00000459972.2:p.Arg281Trp
ENST00000577106.6:c.841C>T ENSP00000458306.2:p.Arg281Trp
ENST00000302262.8:c.841C>T MANE Select ENSP00000305692.3:p.Arg281Trp
ENST00000302262.7:c.841C>T ENSP00000305692.3:p.Arg281Trp
ENST00000390015.7:c.841C>T ENSP00000374665.3:p.Arg281Trp
ENST00000570803.5:c.841C>T ENSP00000460543.1:p.Arg281Trp
NM_000152.3:c.841C>T , LRG_673t1:c.841C>T NP_000143.2:p.Arg281Trp
NM_001079803.1:c.841C>T NP_001073271.1:p.Arg281Trp
NM_001079804.1:c.841C>T NP_001073272.1:p.Arg281Trp
XM_005257193.1:c.841C>T XP_005257250.1:p.Arg281Trp
XM_005257194.3:c.841C>T XP_005257251.1:p.Arg281Trp
NM_000152.4:c.841C>T NP_000143.2:p.Arg281Trp
NM_001079803.2:c.841C>T NP_001073271.1:p.Arg281Trp
NM_001079804.2:c.841C>T NP_001073272.1:p.Arg281Trp
XM_005257193.2:c.841C>T XP_005257250.1:p.Arg281Trp
XM_005257194.4:c.841C>T XP_005257251.1:p.Arg281Trp
NM_000152.5:c.841C>T MANE Select NP_000143.2:p.Arg281Trp
NM_001079803.3:c.841C>T NP_001073271.1:p.Arg281Trp
NM_001079804.3:c.841C>T NP_001073272.1:p.Arg281Trp
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