|
ENST00000486121.7:c.*587G>A
(GLA)
|
ENSP00000501124.2:n.*587G>A
|
|
|
ENST00000674127.2:c.*644G>A
(GLA)
|
ENSP00000501044.2:n.*644G>A
|
|
|
ENST00000710365.1:c.1216G>A
(GLA)
|
ENSP00000518234.1:p.Ala406Thr
|
|
|
ENST00000218516.4:c.1141G>A
(GLA)
MANE Select
|
ENSP00000218516.4:p.Ala381Thr
|
|
|
ENST00000466414.2:n.1277G>A
(GLA)
|
|
|
|
ENST00000468823.2:n.2563G>A
(GLA)
|
|
|
|
ENST00000479445.2:n.1755G>A
(GLA)
|
|
|
|
ENST00000480513.6:c.*449G>A
(GLA)
|
ENSP00000497055.1:n.*449G>A
|
|
|
ENST00000486121.6:c.1186G>A
(GLA)
|
|
|
|
ENST00000649178.1:c.1264G>A
(GLA)
|
ENSP00000498186.1:p.Ala422Thr
|
|
|
ENST00000674127.1:c.1241G>A
(GLA)
|
ENSP00000501044.1:n.1241G>A
|
|
|
ENST00000674142.1:n.1421+24G>A
(GLA)
|
|
|
|
ENST00000675592.1:c.943G>A
(GLA)
|
ENSP00000502239.1:p.Ala315Thr
|
|
|
ENST00000675799.1:c.*666G>A
(GLA)
|
ENSP00000502661.1:n.*666G>A
|
|
|
ENST00000675968.1:n.4012G>A
(GLA)
|
|
|
|
ENST00000676156.1:c.1105G>A
(GLA)
|
ENSP00000501730.1:p.Ala369Thr
|
|
|
ENST00000676372.1:c.1207G>A
(GLA)
|
ENSP00000502805.1:n.1207G>A
|
|
|
ENST00000218516.3:c.1141G>A
(GLA)
|
ENSP00000218516.3:p.Ala381Thr
|
|
|
ENST00000409170.3:c.300+2501C>T
(RPL36A-HNRNPH2)
|
ENSP00000386655.4:n.300+2501C>T
|
|
|
ENST00000409338.5:c.177+6136C>T
(RPL36A-HNRNPH2)
|
ENSP00000386974.2:n.177+6136C>T
|
|
|
ENST00000466414.1:n.467G>A
(GLA)
|
|
|
|
ENST00000493905.6:c.*529G>A
(GLA)
|
ENSP00000476935.1:n.*529G>A
|
|
|
NM_000169.2:c.1141G>A , LRG_672t1:c.1141G>A
(GLA)
|
NP_000160.1:p.Ala381Thr
|
|
|
NM_001199973.1:c.408+2501C>T
(RPL36A-HNRNPH2)
|
NP_001186902.1:n.408+2501C>T
|
|
|
NM_001199974.1:c.285+6136C>T
(RPL36A-HNRNPH2)
|
NP_001186903.1:n.285+6136C>T
|
|
|
XR_938397.1:n.1226G>A
(GLA)
|
|
|
|
XR_938397.2:n.1247G>A
(GLA)
|
|
|
|
NM_001199973.2:c.300+2501C>T
(RPL36A-HNRNPH2)
|
NP_001186902.2:n.300+2501C>T
|
|
|
NM_001199974.2:c.177+6136C>T
(RPL36A-HNRNPH2)
|
NP_001186903.2:n.177+6136C>T
|
|
|
NM_000169.3:c.1141G>A
(GLA)
MANE Select
|
NP_000160.1:p.Ala381Thr
|
|
|
NR_164783.1:n.1220G>A
(GLA)
|
|
|
