|
ENST00000486121.7:c.*488G>A
(GLA)
|
ENSP00000501124.2:n.*488G>A
|
|
|
ENST00000674127.2:c.*545G>A
(GLA)
|
ENSP00000501044.2:n.*545G>A
|
|
|
ENST00000710365.1:c.1117G>A
(GLA)
|
ENSP00000518234.1:p.Ala373Thr
|
|
|
ENST00000218516.4:c.1042G>A
(GLA)
MANE Select
|
ENSP00000218516.4:p.Ala348Thr
|
|
|
ENST00000466414.2:n.1178G>A
(GLA)
|
|
|
|
ENST00000468823.2:n.2464G>A
(GLA)
|
|
|
|
ENST00000479445.2:n.1656G>A
(GLA)
|
|
|
|
ENST00000480513.6:c.*350G>A
(GLA)
|
ENSP00000497055.1:n.*350G>A
|
|
|
ENST00000486121.6:c.1087G>A
(GLA)
|
|
|
|
ENST00000649178.1:c.1165G>A
(GLA)
|
ENSP00000498186.1:p.Ala389Thr
|
|
|
ENST00000674127.1:c.1142G>A
(GLA)
|
ENSP00000501044.1:n.1142G>A
|
|
|
ENST00000674142.1:n.1346G>A
(GLA)
|
|
|
|
ENST00000675592.1:c.844G>A
(GLA)
|
ENSP00000502239.1:p.Ala282Thr
|
|
|
ENST00000675799.1:c.*567G>A
(GLA)
|
ENSP00000502661.1:n.*567G>A
|
|
|
ENST00000675968.1:n.3913G>A
(GLA)
|
|
|
|
ENST00000676156.1:c.1006G>A
(GLA)
|
ENSP00000501730.1:p.Ala336Thr
|
|
|
ENST00000676372.1:c.1108G>A
(GLA)
|
ENSP00000502805.1:n.1108G>A
|
|
|
ENST00000218516.3:c.1042G>A
(GLA)
|
ENSP00000218516.3:p.Ala348Thr
|
|
|
ENST00000409170.3:c.300+2600C>T
(RPL36A-HNRNPH2)
|
ENSP00000386655.4:n.300+2600C>T
|
|
|
ENST00000409338.5:c.177+6235C>T
(RPL36A-HNRNPH2)
|
ENSP00000386974.2:n.177+6235C>T
|
|
|
ENST00000466414.1:n.368G>A
(GLA)
|
|
|
|
ENST00000493905.6:c.*430G>A
(GLA)
|
ENSP00000476935.1:n.*430G>A
|
|
|
NM_000169.2:c.1042G>A , LRG_672t1:c.1042G>A
(GLA)
|
NP_000160.1:p.Ala348Thr
|
|
|
NM_001199973.1:c.408+2600C>T
(RPL36A-HNRNPH2)
|
NP_001186902.1:n.408+2600C>T
|
|
|
NM_001199974.1:c.285+6235C>T
(RPL36A-HNRNPH2)
|
NP_001186903.1:n.285+6235C>T
|
|
|
XR_938397.1:n.1127G>A
(GLA)
|
|
|
|
XR_938397.2:n.1148G>A
(GLA)
|
|
|
|
NM_001199973.2:c.300+2600C>T
(RPL36A-HNRNPH2)
|
NP_001186902.2:n.300+2600C>T
|
|
|
NM_001199974.2:c.177+6235C>T
(RPL36A-HNRNPH2)
|
NP_001186903.2:n.177+6235C>T
|
|
|
NM_000169.3:c.1042G>A
(GLA)
MANE Select
|
NP_000160.1:p.Ala348Thr
|
|
|
NR_164783.1:n.1121G>A
(GLA)
|
|
|
