Canonical Allele Identifier: CA401367345
Gene: GAA HGNC NCBI

Linked Data

dbSNP Id: rs759782466
gnomAD v2: 17-78084812-C-A
gnomAD v4: 17-80111013-C-A
MyVariant Identifiers: chr17:g.78084812C>A (hg19) chr17:g.80111013C>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.80111013C>A , CM000679.2:g.80111013C>A GRCh38
NC_000017.10:g.78084812C>A , CM000679.1:g.78084812C>A GRCh37
NC_000017.9:g.75699407C>A NCBI36
NG_009822.1:g.14458C>A , LRG_673:g.14458C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000570803.6:c.1624C>A ENSP00000460543.2:p.Pro542Thr
ENST00000572080.2:c.1624C>A ENSP00000459972.2:p.Pro542Thr
ENST00000577106.6:c.1624C>A ENSP00000458306.2:p.Pro542Thr
ENST00000302262.8:c.1624C>A MANE Select ENSP00000305692.3:p.Pro542Thr
ENST00000302262.7:c.1624C>A ENSP00000305692.3:p.Pro542Thr
ENST00000390015.7:c.1624C>A ENSP00000374665.3:p.Pro542Thr
ENST00000572080.1:c.12C>A
NM_000152.3:c.1624C>A , LRG_673t1:c.1624C>A NP_000143.2:p.Pro542Thr
NM_001079803.1:c.1624C>A NP_001073271.1:p.Pro542Thr
NM_001079804.1:c.1624C>A NP_001073272.1:p.Pro542Thr
XM_005257193.1:c.1624C>A XP_005257250.1:p.Pro542Thr
XM_005257194.3:c.1624C>A XP_005257251.1:p.Pro542Thr
NM_000152.4:c.1624C>A NP_000143.2:p.Pro542Thr
NM_001079803.2:c.1624C>A NP_001073271.1:p.Pro542Thr
NM_001079804.2:c.1624C>A NP_001073272.1:p.Pro542Thr
XM_005257193.2:c.1624C>A XP_005257250.1:p.Pro542Thr
XM_005257194.4:c.1624C>A XP_005257251.1:p.Pro542Thr
NM_000152.5:c.1624C>A MANE Select NP_000143.2:p.Pro542Thr
NM_001079803.3:c.1624C>A NP_001073271.1:p.Pro542Thr
NM_001079804.3:c.1624C>A NP_001073272.1:p.Pro542Thr
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