Canonical Allele Identifier: CA2640295362

Gene: GAA

Linked Data

• gnomAD v4: 17-80112810-G-T

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.80112810G>T , CM000679.2:g.80112810G>T	GRCh38
NC_000017.10:g.78086609G>T , CM000679.1:g.78086609G>T	GRCh37
NC_000017.9:g.75701204G>T	NCBI36
NG_009822.1:g.16255G>T , LRG_673:g.16255G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000570803.6:c.1889-66G>T	ENSP00000460543.2:n.1889-66G>T
ENST00000572080.2:c.1889-35G>T	ENSP00000459972.2:n.1889-35G>T
ENST00000577106.6:c.1889-66G>T	ENSP00000458306.2:n.1889-66G>T
ENST00000302262.8:c.1889-66G>T MANE Select	ENSP00000305692.3:n.1889-66G>T
ENST00000302262.7:c.1889-66G>T	ENSP00000305692.3:n.1889-66G>T
ENST00000390015.7:c.1889-66G>T	ENSP00000374665.3:n.1889-66G>T
ENST00000570716.1:n.329-66G>T
ENST00000572080.1:c.277-35G>T
ENST00000572803.1:n.503-66G>T
NM_000152.3:c.1889-66G>T , LRG_673t1:c.1889-66G>T	NP_000143.2:n.1889-66G>T
NM_001079803.1:c.1889-66G>T	NP_001073271.1:n.1889-66G>T
NM_001079804.1:c.1889-66G>T	NP_001073272.1:n.1889-66G>T
XM_005257193.1:c.1889-66G>T	XP_005257250.1:n.1889-66G>T
XM_005257194.3:c.1889-66G>T	XP_005257251.1:n.1889-66G>T
NM_000152.4:c.1889-66G>T	NP_000143.2:n.1889-66G>T
NM_001079803.2:c.1889-66G>T	NP_001073271.1:n.1889-66G>T
NM_001079804.2:c.1889-66G>T	NP_001073272.1:n.1889-66G>T
XM_005257193.2:c.1889-66G>T	XP_005257250.1:n.1889-66G>T
XM_005257194.4:c.1889-66G>T	XP_005257251.1:n.1889-66G>T
NM_000152.5:c.1889-66G>T MANE Select	NP_000143.2:n.1889-66G>T
NM_001079803.3:c.1889-66G>T	NP_001073271.1:n.1889-66G>T
NM_001079804.3:c.1889-66G>T	NP_001073272.1:n.1889-66G>T