Canonical Allele Identifier: CA2640291837

Gene: GAA

Linked Data

• gnomAD v4: 17-80118880-T-C

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.80118880T>C , CM000679.2:g.80118880T>C	GRCh38
NC_000017.10:g.78092679T>C , CM000679.1:g.78092679T>C	GRCh37
NC_000017.9:g.75707274T>C	NCBI36
NG_009822.1:g.22325T>C , LRG_673:g.22325T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000570803.6:c.2799+75T>C	ENSP00000460543.2:n.2799+75T>C
ENST00000572080.2:c.*937+75T>C	ENSP00000459972.2:n.*937+75T>C
ENST00000577106.6:c.2799+75T>C	ENSP00000458306.2:n.2799+75T>C
ENST00000302262.8:c.2799+75T>C MANE Select	ENSP00000305692.3:n.2799+75T>C
ENST00000302262.7:c.2799+75T>C	ENSP00000305692.3:n.2799+75T>C
ENST00000390015.7:c.2799+75T>C	ENSP00000374665.3:n.2799+75T>C
ENST00000573556.1:n.752+75T>C
NM_000152.3:c.2799+75T>C , LRG_673t1:c.2799+75T>C	NP_000143.2:n.2799+75T>C
NM_001079803.1:c.2799+75T>C	NP_001073271.1:n.2799+75T>C
NM_001079804.1:c.2799+75T>C	NP_001073272.1:n.2799+75T>C
XM_005257193.1:c.2799+75T>C	XP_005257250.1:n.2799+75T>C
XM_005257194.3:c.2799+75T>C	XP_005257251.1:n.2799+75T>C
NM_000152.4:c.2799+75T>C	NP_000143.2:n.2799+75T>C
NM_001079803.2:c.2799+75T>C	NP_001073271.1:n.2799+75T>C
NM_001079804.2:c.2799+75T>C	NP_001073272.1:n.2799+75T>C
XM_005257193.2:c.2799+75T>C	XP_005257250.1:n.2799+75T>C
XM_005257194.4:c.2799+75T>C	XP_005257251.1:n.2799+75T>C
NM_000152.5:c.2799+75T>C MANE Select	NP_000143.2:n.2799+75T>C
NM_001079803.3:c.2799+75T>C	NP_001073271.1:n.2799+75T>C
NM_001079804.3:c.2799+75T>C	NP_001073272.1:n.2799+75T>C