Canonical Allele Identifier: CA16041889
Gene: GAA HGNC NCBI

Linked Data

ClinVar Variation Id: 370483
ClinVar RCV Id: RCV000411518 RCV001702363
dbSNP Id: rs1057516520
gnomAD v4: 17-80108528-A-T
MyVariant Identifiers: chr17:g.78082327A>T (hg19) chr17:g.80108528A>T (hg38)
PubMed: PMID:15121988 PMID:18607768 PMID:20817528
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.80108528A>T , CM000679.2:g.80108528A>T GRCh38
NC_000017.10:g.78082327A>T , CM000679.1:g.78082327A>T GRCh37
NC_000017.9:g.75696922A>T NCBI36
NG_009822.1:g.11973A>T , LRG_673:g.11973A>T

Transcript Alleles

HGVS Amino-acid change
ENST00000570803.6:c.1115A>T ENSP00000460543.2:p.His372Leu
ENST00000572080.2:c.1115A>T ENSP00000459972.2:p.His372Leu
ENST00000577106.6:c.1115A>T ENSP00000458306.2:p.His372Leu
ENST00000302262.8:c.1115A>T MANE Select ENSP00000305692.3:p.His372Leu
ENST00000302262.7:c.1115A>T ENSP00000305692.3:p.His372Leu
ENST00000390015.7:c.1115A>T ENSP00000374665.3:p.His372Leu
NM_000152.3:c.1115A>T , LRG_673t1:c.1115A>T NP_000143.2:p.His372Leu
NM_001079803.1:c.1115A>T NP_001073271.1:p.His372Leu
NM_001079804.1:c.1115A>T NP_001073272.1:p.His372Leu
XM_005257193.1:c.1115A>T XP_005257250.1:p.His372Leu
XM_005257194.3:c.1115A>T XP_005257251.1:p.His372Leu
NM_000152.4:c.1115A>T NP_000143.2:p.His372Leu
NM_001079803.2:c.1115A>T NP_001073271.1:p.His372Leu
NM_001079804.2:c.1115A>T NP_001073272.1:p.His372Leu
XM_005257193.2:c.1115A>T XP_005257250.1:p.His372Leu
XM_005257194.4:c.1115A>T XP_005257251.1:p.His372Leu
NM_000152.5:c.1115A>T MANE Select NP_000143.2:p.His372Leu
NM_001079803.3:c.1115A>T NP_001073271.1:p.His372Leu
NM_001079804.3:c.1115A>T NP_001073272.1:p.His372Leu
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