Canonical Allele Identifier: CA2573102892

Gene: GAA

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.[80107616C>T;80107625C>T] , CM000679.2:g.[80107616C>T;80107625C>T]	GRCh38
NC_000017.10:g.[78081415C>T;78081424C>T] , CM000679.1:g.[78081415C>T;78081424C>T]	GRCh37
NC_000017.9:g.[75696010C>T;75696019C>T]	NCBI36
NG_009822.1:g.[11061C>T;11070C>T] , LRG_673:g.[11061C>T;11070C>T]

Transcript Alleles

HGVS	Amino-acid Change
ENST00000570803.6:c.[752C>T;761C>T]	ENSP00000460543.2:p.[Ser251Leu;Ser254Leu]
ENST00000572080.2:c.[752C>T;761C>T]	ENSP00000459972.2:p.[Ser251Leu;Ser254Leu]
ENST00000577106.6:c.[752C>T;761C>T]	ENSP00000458306.2:p.[Ser251Leu;Ser254Leu]
ENST00000302262.8:c.[752C>T;761C>T] MANE Select	ENSP00000305692.3:p.[Ser251Leu;Ser254Leu]
ENST00000302262.7:c.[752C>T;761C>T]	ENSP00000305692.3:p.[Ser251Leu;Ser254Leu]
ENST00000390015.7:c.[752C>T;761C>T]	ENSP00000374665.3:p.[Ser251Leu;Ser254Leu]
ENST00000570803.5:c.[752C>T;761C>T]	ENSP00000460543.1:p.[Ser251Leu;Ser254Leu]
NM_000152.3:c.[752C>T;761C>T] , LRG_673t1:c.[752C>T;761C>T]	NP_000143.2:p.[Ser251Leu;Ser254Leu]
NM_001079803.1:c.[752C>T;761C>T]	NP_001073271.1:p.[Ser251Leu;Ser254Leu]
NM_001079804.1:c.[752C>T;761C>T]	NP_001073272.1:p.[Ser251Leu;Ser254Leu]
XM_005257193.1:c.[752C>T;761C>T]	XP_005257250.1:p.[Ser251Leu;Ser254Leu]
XM_005257194.3:c.[752C>T;761C>T]	XP_005257251.1:p.[Ser251Leu;Ser254Leu]
NM_000152.4:c.[752C>T;761C>T]	NP_000143.2:p.[Ser251Leu;Ser254Leu]
NM_001079803.2:c.[752C>T;761C>T]	NP_001073271.1:p.[Ser251Leu;Ser254Leu]
NM_001079804.2:c.[752C>T;761C>T]	NP_001073272.1:p.[Ser251Leu;Ser254Leu]
XM_005257193.2:c.[752C>T;761C>T]	XP_005257250.1:p.[Ser251Leu;Ser254Leu]
XM_005257194.4:c.[752C>T;761C>T]	XP_005257251.1:p.[Ser251Leu;Ser254Leu]
NM_000152.5:c.[752C>T;761C>T] MANE Select	NP_000143.2:p.[Ser251Leu;Ser254Leu]
NM_001079803.3:c.[752C>T;761C>T]	NP_001073271.1:p.[Ser251Leu;Ser254Leu]
NM_001079804.3:c.[752C>T;761C>T]	NP_001073272.1:p.[Ser251Leu;Ser254Leu]