Canonical Allele Identifier: CA401325125
Gene: GAA HGNC NCBI

Linked Data

ClinVar Variation Id: 1693552
ClinVar RCV Id: RCV002260945
dbSNP Id: rs2143925134
MyVariant Identifiers: chr17:g.78091478G>A (hg19) chr17:g.80117679G>A (hg38)
ERepo: CA401325125/MONDO:0009290/010
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.80117679G>A , CM000679.2:g.80117679G>A GRCh38
NC_000017.10:g.78091478G>A , CM000679.1:g.78091478G>A GRCh37
NC_000017.9:g.75706073G>A NCBI36
NG_009822.1:g.21124G>A , LRG_673:g.21124G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000570803.6:c.2411G>A ENSP00000460543.2:p.Trp804Ter
ENST00000572080.2:c.*549G>A ENSP00000459972.2:n.*549G>A
ENST00000577106.6:c.2411G>A ENSP00000458306.2:p.Trp804Ter
ENST00000302262.8:c.2411G>A MANE Select ENSP00000305692.3:p.Trp804Ter
ENST00000302262.7:c.2411G>A ENSP00000305692.3:p.Trp804Ter
ENST00000390015.7:c.2411G>A ENSP00000374665.3:p.Trp804Ter
ENST00000573556.1:n.364G>A
NM_000152.3:c.2411G>A , LRG_673t1:c.2411G>A NP_000143.2:p.Trp804Ter
NM_001079803.1:c.2411G>A NP_001073271.1:p.Trp804Ter
NM_001079804.1:c.2411G>A NP_001073272.1:p.Trp804Ter
XM_005257193.1:c.2411G>A XP_005257250.1:p.Trp804Ter
XM_005257194.3:c.2411G>A XP_005257251.1:p.Trp804Ter
NM_000152.4:c.2411G>A NP_000143.2:p.Trp804Ter
NM_001079803.2:c.2411G>A NP_001073271.1:p.Trp804Ter
NM_001079804.2:c.2411G>A NP_001073272.1:p.Trp804Ter
XM_005257193.2:c.2411G>A XP_005257250.1:p.Trp804Ter
XM_005257194.4:c.2411G>A XP_005257251.1:p.Trp804Ter
NM_000152.5:c.2411G>A MANE Select NP_000143.2:p.Trp804Ter
NM_001079803.3:c.2411G>A NP_001073271.1:p.Trp804Ter
NM_001079804.3:c.2411G>A NP_001073272.1:p.Trp804Ter
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