Canonical Allele Identifier: CA2277817273
Gene: GAA HGNC NCBI
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.80117031C= , CM000679.2:g.80117031C= GRCh38
NC_000017.10:g.78090830C= , CM000679.1:g.78090830C= GRCh37
NC_000017.9:g.75705425C= NCBI36
NG_009822.1:g.20476C= , LRG_673:g.20476C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000570803.6:c.2253C= ENSP00000460543.2:p.Leu751=
ENST00000572080.2:c.*391C= ENSP00000459972.2:n.*391C=
ENST00000577106.6:c.2253C= ENSP00000458306.2:p.Leu751=
ENST00000302262.8:c.2253C= MANE Select ENSP00000305692.3:p.Leu751=
ENST00000302262.7:c.2253C= ENSP00000305692.3:p.Leu751=
ENST00000390015.7:c.2253C= ENSP00000374665.3:p.Leu751=
ENST00000572080.1:c.672C=
ENST00000573556.1:n.206C=
NM_000152.3:c.2253C= , LRG_673t1:c.2253C= NP_000143.2:p.Leu751=
NM_001079803.1:c.2253C= NP_001073271.1:p.Leu751=
NM_001079804.1:c.2253C= NP_001073272.1:p.Leu751=
XM_005257193.1:c.2253C= XP_005257250.1:p.Leu751=
XM_005257194.3:c.2253C= XP_005257251.1:p.Leu751=
NM_000152.4:c.2253C= NP_000143.2:p.Leu751=
NM_001079803.2:c.2253C= NP_001073271.1:p.Leu751=
NM_001079804.2:c.2253C= NP_001073272.1:p.Leu751=
XM_005257193.2:c.2253C= XP_005257250.1:p.Leu751=
XM_005257194.4:c.2253C= XP_005257251.1:p.Leu751=
NM_000152.5:c.2253C= MANE Select NP_000143.2:p.Leu751=
NM_001079803.3:c.2253C= NP_001073271.1:p.Leu751=
NM_001079804.3:c.2253C= NP_001073272.1:p.Leu751=
Search 100 bp 5'
Search 100 bp 3'