Canonical Allele Identifier: CA116616
Gene: GAA HGNC NCBI

Linked Data

ClinVar Variation Id: 4032
dbSNP Id: rs121907942

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.80111023C>T , CM000679.2:g.80111023C>T GRCh38
NC_000017.10:g.78084822C>T , CM000679.1:g.78084822C>T GRCh37
NC_000017.9:g.75699417C>T NCBI36
NG_009822.1:g.14468C>T , LRG_673:g.14468C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000302262.8:c.1634C>T MANE Select ENSP00000305692.3:p.Pro545Leu
ENST00000302262.7:c.1634C>T ENSP00000305692.3:p.Pro545Leu
ENST00000390015.7:c.1634C>T ENSP00000374665.3:p.Pro545Leu
ENST00000572080.1:n.22C>T
NM_000152.3:c.1634C>T , LRG_673t1:c.1634C>T NP_000143.2:p.Pro545Leu
NM_001079803.1:c.1634C>T NP_001073271.1:p.Pro545Leu
NM_001079804.1:c.1634C>T NP_001073272.1:p.Pro545Leu
XM_005257193.1:c.1634C>T XP_005257250.1:p.Pro545Leu
XM_005257194.3:c.1634C>T XP_005257251.1:p.Pro545Leu
NM_000152.4:c.1634C>T NP_000143.2:p.Pro545Leu
NM_001079803.2:c.1634C>T NP_001073271.1:p.Pro545Leu
NM_001079804.2:c.1634C>T NP_001073272.1:p.Pro545Leu
XM_005257193.2:c.1634C>T XP_005257250.1:p.Pro545Leu
XM_005257194.4:c.1634C>T XP_005257251.1:p.Pro545Leu
NM_000152.5:c.1634C>T MANE Select NP_000143.2:p.Pro545Leu
NM_001079803.3:c.1634C>T NP_001073271.1:p.Pro545Leu
NM_001079804.3:c.1634C>T NP_001073272.1:p.Pro545Leu