Canonical Allele Identifier: CA401324918
Gene: GAA HGNC NCBI

Linked Data

ClinVar Variation Id: 552527
ClinVar RCV Id: RCV000667808
dbSNP Id: rs1555602703
MyVariant Identifiers: chr17:g.78090891T>C (hg19) chr17:g.80117092T>C (hg38)
ERepo: CA401324918/MONDO:0009290/010
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.80117092T>C , CM000679.2:g.80117092T>C GRCh38
NC_000017.10:g.78090891T>C , CM000679.1:g.78090891T>C GRCh37
NC_000017.9:g.75705486T>C NCBI36
NG_009822.1:g.20537T>C , LRG_673:g.20537T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000570803.6:c.2314T>C ENSP00000460543.2:p.Trp772Arg
ENST00000572080.2:c.*452T>C ENSP00000459972.2:n.*452T>C
ENST00000577106.6:c.2314T>C ENSP00000458306.2:p.Trp772Arg
ENST00000302262.8:c.2314T>C MANE Select ENSP00000305692.3:p.Trp772Arg
ENST00000302262.7:c.2314T>C ENSP00000305692.3:p.Trp772Arg
ENST00000390015.7:c.2314T>C ENSP00000374665.3:p.Trp772Arg
ENST00000573556.1:n.267T>C
NM_000152.3:c.2314T>C , LRG_673t1:c.2314T>C NP_000143.2:p.Trp772Arg
NM_001079803.1:c.2314T>C NP_001073271.1:p.Trp772Arg
NM_001079804.1:c.2314T>C NP_001073272.1:p.Trp772Arg
XM_005257193.1:c.2314T>C XP_005257250.1:p.Trp772Arg
XM_005257194.3:c.2314T>C XP_005257251.1:p.Trp772Arg
NM_000152.4:c.2314T>C NP_000143.2:p.Trp772Arg
NM_001079803.2:c.2314T>C NP_001073271.1:p.Trp772Arg
NM_001079804.2:c.2314T>C NP_001073272.1:p.Trp772Arg
XM_005257193.2:c.2314T>C XP_005257250.1:p.Trp772Arg
XM_005257194.4:c.2314T>C XP_005257251.1:p.Trp772Arg
NM_000152.5:c.2314T>C MANE Select NP_000143.2:p.Trp772Arg
NM_001079803.3:c.2314T>C NP_001073271.1:p.Trp772Arg
NM_001079804.3:c.2314T>C NP_001073272.1:p.Trp772Arg
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