Canonical Allele Identifier: CA401324874
Gene: GAA HGNC NCBI

Linked Data

MyVariant Identifiers: chr17:g.78090868C>A (hg19) chr17:g.80117069C>A (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.80117069C>A , CM000679.2:g.80117069C>A GRCh38
NC_000017.10:g.78090868C>A , CM000679.1:g.78090868C>A GRCh37
NC_000017.9:g.75705463C>A NCBI36
NG_009822.1:g.20514C>A , LRG_673:g.20514C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000570803.6:c.2291C>A ENSP00000460543.2:p.Thr764Asn
ENST00000572080.2:c.*429C>A ENSP00000459972.2:n.*429C>A
ENST00000577106.6:c.2291C>A ENSP00000458306.2:p.Thr764Asn
ENST00000302262.8:c.2291C>A MANE Select ENSP00000305692.3:p.Thr764Asn
ENST00000302262.7:c.2291C>A ENSP00000305692.3:p.Thr764Asn
ENST00000390015.7:c.2291C>A ENSP00000374665.3:p.Thr764Asn
ENST00000572080.1:c.710C>A
ENST00000573556.1:n.244C>A
NM_000152.3:c.2291C>A , LRG_673t1:c.2291C>A NP_000143.2:p.Thr764Asn
NM_001079803.1:c.2291C>A NP_001073271.1:p.Thr764Asn
NM_001079804.1:c.2291C>A NP_001073272.1:p.Thr764Asn
XM_005257193.1:c.2291C>A XP_005257250.1:p.Thr764Asn
XM_005257194.3:c.2291C>A XP_005257251.1:p.Thr764Asn
NM_000152.4:c.2291C>A NP_000143.2:p.Thr764Asn
NM_001079803.2:c.2291C>A NP_001073271.1:p.Thr764Asn
NM_001079804.2:c.2291C>A NP_001073272.1:p.Thr764Asn
XM_005257193.2:c.2291C>A XP_005257250.1:p.Thr764Asn
XM_005257194.4:c.2291C>A XP_005257251.1:p.Thr764Asn
NM_000152.5:c.2291C>A MANE Select NP_000143.2:p.Thr764Asn
NM_001079803.3:c.2291C>A NP_001073271.1:p.Thr764Asn
NM_001079804.3:c.2291C>A NP_001073272.1:p.Thr764Asn
Search 100 bp 5'
Search 100 bp 3'