Canonical Allele Identifier: CA2448297631

Gene: GLA RPL36A-HNRNPH2

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.101398003T= , CM000685.2:g.101398003T=	GRCh38
NC_000023.10:g.100652991T= , CM000685.1:g.100652991T=	GRCh37
NC_000023.9:g.100539647T=	NCBI36
NG_007119.1:g.14961A= , LRG_672:g.14961A=

Transcript Alleles

HGVS	Amino-acid change
ENST00000486121.7:c.*542A= (GLA)	ENSP00000501124.2:n.*542A=
ENST00000674127.2:c.*599A= (GLA)	ENSP00000501044.2:n.*599A=
ENST00000710365.1:c.1171A= (GLA)	ENSP00000518234.1:p.Thr391=
ENST00000218516.4:c.1096A= (GLA) MANE Select	ENSP00000218516.4:p.Thr366=
ENST00000466414.2:n.1232A= (GLA)
ENST00000468823.2:n.2518A= (GLA)
ENST00000479445.2:n.1710A= (GLA)
ENST00000480513.6:c.*404A= (GLA)	ENSP00000497055.1:n.*404A=
ENST00000486121.6:c.1141A= (GLA)
ENST00000649178.1:c.1219A= (GLA)	ENSP00000498186.1:p.Thr407=
ENST00000674127.1:c.1196A= (GLA)	ENSP00000501044.1:n.1196A=
ENST00000674142.1:n.1400A= (GLA)
ENST00000675592.1:c.898A= (GLA)	ENSP00000502239.1:p.Thr300=
ENST00000675799.1:c.*621A= (GLA)	ENSP00000502661.1:n.*621A=
ENST00000675968.1:n.3967A= (GLA)
ENST00000676156.1:c.1060A= (GLA)	ENSP00000501730.1:p.Thr354=
ENST00000676372.1:c.1162A= (GLA)	ENSP00000502805.1:n.1162A=
ENST00000218516.3:c.1096A= (GLA)	ENSP00000218516.3:p.Thr366=
ENST00000409170.3:c.300+2546T= (RPL36A-HNRNPH2)	ENSP00000386655.4:n.300+2546T=
ENST00000409338.5:c.177+6181T= (RPL36A-HNRNPH2)	ENSP00000386974.2:n.177+6181T=
ENST00000466414.1:n.422A= (GLA)
ENST00000493905.6:c.*484A= (GLA)	ENSP00000476935.1:n.*484A=
NM_000169.2:c.1096A= , LRG_672t1:c.1096A= (GLA)	NP_000160.1:p.Thr366=
NM_001199973.1:c.408+2546T= (RPL36A-HNRNPH2)	NP_001186902.1:n.408+2546T=
NM_001199974.1:c.285+6181T= (RPL36A-HNRNPH2)	NP_001186903.1:n.285+6181T=
XR_938397.1:n.1181A= (GLA)
XR_938397.2:n.1202A= (GLA)
NM_001199973.2:c.300+2546T= (RPL36A-HNRNPH2)	NP_001186902.2:n.300+2546T=
NM_001199974.2:c.177+6181T= (RPL36A-HNRNPH2)	NP_001186903.2:n.177+6181T=
NM_000169.3:c.1096A= (GLA) MANE Select	NP_000160.1:p.Thr366=
NR_164783.1:n.1175A= (GLA)