ENST00000486121.7:c.*317G>A
(GLA)
|
ENSP00000501124.2:n.*317G>A
|
|
ENST00000674127.2:c.*374G>A
(GLA)
|
ENSP00000501044.2:n.*374G>A
|
|
ENST00000710365.1:c.946G>A
(GLA)
|
ENSP00000518234.1:p.Ala316Thr
|
|
ENST00000218516.4:c.871G>A
(GLA)
MANE Select
|
ENSP00000218516.4:p.Ala291Thr
|
|
ENST00000466414.2:n.1007G>A
(GLA)
|
|
|
ENST00000468823.2:n.2023G>A
(GLA)
|
|
|
ENST00000479445.2:n.1485G>A
(GLA)
|
|
|
ENST00000480513.6:c.*179G>A
(GLA)
|
ENSP00000497055.1:n.*179G>A
|
|
ENST00000486121.6:c.916G>A
(GLA)
|
|
|
ENST00000649178.1:c.994G>A
(GLA)
|
ENSP00000498186.1:p.Ala332Thr
|
|
ENST00000674127.1:c.971G>A
(GLA)
|
ENSP00000501044.1:n.971G>A
|
|
ENST00000674142.1:n.1175G>A
(GLA)
|
|
|
ENST00000674634.2:c.871G>A
(GLA)
|
ENSP00000502629.2:p.Ala291Thr
|
|
ENST00000675592.1:c.801+287G>A
(GLA)
|
ENSP00000502239.1:n.801+287G>A
|
|
ENST00000675799.1:c.*396G>A
(GLA)
|
ENSP00000502661.1:n.*396G>A
|
|
ENST00000675968.1:n.3742G>A
(GLA)
|
|
|
ENST00000676156.1:c.835G>A
(GLA)
|
ENSP00000501730.1:p.Ala279Thr
|
|
ENST00000676372.1:c.937G>A
(GLA)
|
ENSP00000502805.1:n.937G>A
|
|
ENST00000218516.3:c.871G>A
(GLA)
|
ENSP00000218516.3:p.Ala291Thr
|
|
ENST00000409170.3:c.300+3041C>T
(RPL36A-HNRNPH2)
|
ENSP00000386655.4:n.300+3041C>T
|
|
ENST00000409338.5:c.177+6676C>T
(RPL36A-HNRNPH2)
|
ENSP00000386974.2:n.177+6676C>T
|
|
ENST00000466414.1:n.197G>A
(GLA)
|
|
|
ENST00000493905.6:c.*259G>A
(GLA)
|
ENSP00000476935.1:n.*259G>A
|
|
NM_000169.2:c.871G>A , LRG_672t1:c.871G>A
(GLA)
|
NP_000160.1:p.Ala291Thr
|
|
NM_001199973.1:c.408+3041C>T
(RPL36A-HNRNPH2)
|
NP_001186902.1:n.408+3041C>T
|
|
NM_001199974.1:c.285+6676C>T
(RPL36A-HNRNPH2)
|
NP_001186903.1:n.285+6676C>T
|
|
XR_938397.1:n.956G>A
(GLA)
|
|
|
XR_938397.2:n.977G>A
(GLA)
|
|
|
NM_001199973.2:c.300+3041C>T
(RPL36A-HNRNPH2)
|
NP_001186902.2:n.300+3041C>T
|
|
NM_001199974.2:c.177+6676C>T
(RPL36A-HNRNPH2)
|
NP_001186903.2:n.177+6676C>T
|
|
NM_000169.3:c.871G>A
(GLA)
MANE Select
|
NP_000160.1:p.Ala291Thr
|
|
NR_164783.1:n.950G>A
(GLA)
|
|
|