Canonical Allele Identifier: CA240225

Gene: GAA

Linked Data

• ClinVar Variation Id: 194321
• ClinVar RCV Id: RCV000174661 ; RCV001128431
• dbSNP Id: rs794727115
• gnomAD v4: 17-80112871-C-T
• MyVariant Identifiers: chr17:g.78086670C>T (hg19) ; chr17:g.80112871C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.80112871C>T , CM000679.2:g.80112871C>T	GRCh38
NC_000017.10:g.78086670C>T , CM000679.1:g.78086670C>T	GRCh37
NC_000017.9:g.75701265C>T	NCBI36
NG_009822.1:g.16316C>T , LRG_673:g.16316C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000570803.6:c.1889-5C>T	ENSP00000460543.2:n.1889-5C>T
ENST00000572080.2:c.*22C>T	ENSP00000459972.2:n.*22C>T
ENST00000577106.6:c.1889-5C>T	ENSP00000458306.2:n.1889-5C>T
ENST00000302262.8:c.1889-5C>T MANE Select	ENSP00000305692.3:n.1889-5C>T
ENST00000302262.7:c.1889-5C>T	ENSP00000305692.3:n.1889-5C>T
ENST00000390015.7:c.1889-5C>T	ENSP00000374665.3:n.1889-5C>T
ENST00000570716.1:n.329-5C>T
ENST00000572080.1:c.303C>T
ENST00000572803.1:n.503-5C>T
NM_000152.3:c.1889-5C>T , LRG_673t1:c.1889-5C>T	NP_000143.2:n.1889-5C>T
NM_001079803.1:c.1889-5C>T	NP_001073271.1:n.1889-5C>T
NM_001079804.1:c.1889-5C>T	NP_001073272.1:n.1889-5C>T
XM_005257193.1:c.1889-5C>T	XP_005257250.1:n.1889-5C>T
XM_005257194.3:c.1889-5C>T	XP_005257251.1:n.1889-5C>T
NM_000152.4:c.1889-5C>T	NP_000143.2:n.1889-5C>T
NM_001079803.2:c.1889-5C>T	NP_001073271.1:n.1889-5C>T
NM_001079804.2:c.1889-5C>T	NP_001073272.1:n.1889-5C>T
XM_005257193.2:c.1889-5C>T	XP_005257250.1:n.1889-5C>T
XM_005257194.4:c.1889-5C>T	XP_005257251.1:n.1889-5C>T
NM_000152.5:c.1889-5C>T MANE Select	NP_000143.2:n.1889-5C>T
NM_001079803.3:c.1889-5C>T	NP_001073271.1:n.1889-5C>T
NM_001079804.3:c.1889-5C>T	NP_001073272.1:n.1889-5C>T