Canonical Allele Identifier: CA8814994

Gene: GAA

Linked Data

• ClinVar Variation Id: 1190471
• ClinVar RCV Id: RCV001551208 ; RCV001832749
• dbSNP Id: rs752054011
• ExAC: 17:78081364 C / T
• gnomAD v2: 17-78081364-C-T
• gnomAD v3: 17-80107565-C-T
• gnomAD v4: 17-80107565-C-T
• COSMIC: COSM1680128
• MyVariant Identifiers: chr17:g.78081364C>T (hg19) ; chr17:g.80107565C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.80107565C>T , CM000679.2:g.80107565C>T	GRCh38
NC_000017.10:g.78081364C>T , CM000679.1:g.78081364C>T	GRCh37
NC_000017.9:g.75695959C>T	NCBI36
NG_009822.1:g.11010C>T , LRG_673:g.11010C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000570803.6:c.701C>T	ENSP00000460543.2:p.Thr234Met
ENST00000572080.2:c.701C>T	ENSP00000459972.2:p.Thr234Met
ENST00000577106.6:c.701C>T	ENSP00000458306.2:p.Thr234Met
ENST00000302262.8:c.701C>T MANE Select	ENSP00000305692.3:p.Thr234Met
ENST00000302262.7:c.701C>T	ENSP00000305692.3:p.Thr234Met
ENST00000390015.7:c.701C>T	ENSP00000374665.3:p.Thr234Met
ENST00000570803.5:c.701C>T	ENSP00000460543.1:p.Thr234Met
NM_000152.3:c.701C>T , LRG_673t1:c.701C>T	NP_000143.2:p.Thr234Met
NM_001079803.1:c.701C>T	NP_001073271.1:p.Thr234Met
NM_001079804.1:c.701C>T	NP_001073272.1:p.Thr234Met
XM_005257193.1:c.701C>T	XP_005257250.1:p.Thr234Met
XM_005257194.3:c.701C>T	XP_005257251.1:p.Thr234Met
NM_000152.4:c.701C>T	NP_000143.2:p.Thr234Met
NM_001079803.2:c.701C>T	NP_001073271.1:p.Thr234Met
NM_001079804.2:c.701C>T	NP_001073272.1:p.Thr234Met
XM_005257193.2:c.701C>T	XP_005257250.1:p.Thr234Met
XM_005257194.4:c.701C>T	XP_005257251.1:p.Thr234Met
NM_000152.5:c.701C>T MANE Select	NP_000143.2:p.Thr234Met
NM_001079803.3:c.701C>T	NP_001073271.1:p.Thr234Met
NM_001079804.3:c.701C>T	NP_001073272.1:p.Thr234Met