Canonical Allele Identifier: CA8815744

Gene: GAA

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.80117713C>T , CM000679.2:g.80117713C>T	GRCh38
NC_000017.10:g.78091512C>T , CM000679.1:g.78091512C>T	GRCh37
NC_000017.9:g.75706107C>T	NCBI36
NG_009822.1:g.21158C>T , LRG_673:g.21158C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_000152.5:c.2445C>T MANE Select	NP_000143.2:p.Asn815=
ENST00000302262.8:c.2445C>T MANE Select	ENSP00000305692.3:p.Asn815=
NM_000152.3:c.2445C>T , LRG_673t1:c.2445C>T	NP_000143.2:p.Asn815=
NM_000152.4:c.2445C>T	NP_000143.2:p.Asn815=
NM_001079803.1:c.2445C>T	NP_001073271.1:p.Asn815=
NM_001079803.2:c.2445C>T	NP_001073271.1:p.Asn815=
NM_001079803.3:c.2445C>T	NP_001073271.1:p.Asn815=
NM_001079804.1:c.2445C>T	NP_001073272.1:p.Asn815=
NM_001079804.2:c.2445C>T	NP_001073272.1:p.Asn815=
NM_001079804.3:c.2445C>T	NP_001073272.1:p.Asn815=
ENST00000302262.7:c.2445C>T	ENSP00000305692.3:p.Asn815=
ENST00000390015.7:c.2445C>T	ENSP00000374665.3:p.Asn815=
ENST00000570803.6:c.2445C>T	ENSP00000460543.2:p.Asn815=
ENST00000572080.2:c.*583C>T	ENSP00000459972.2:n.*583C>T
ENST00000573556.1:n.398C>T
ENST00000577106.6:c.2445C>T	ENSP00000458306.2:p.Asn815=
XM_005257193.1:c.2445C>T	XP_005257250.1:p.Asn815=
XM_005257193.2:c.2445C>T	XP_005257250.1:p.Asn815=
XM_005257194.3:c.2445C>T	XP_005257251.1:p.Asn815=
XM_005257194.4:c.2445C>T	XP_005257251.1:p.Asn815=