Canonical Allele Identifier: CA2448297656

Gene: GLA RPL36A-HNRNPH2

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.101398012G= , CM000685.2:g.101398012G=	GRCh38
NC_000023.10:g.100653000G= , CM000685.1:g.100653000G=	GRCh37
NC_000023.9:g.100539656G=	NCBI36
NG_007119.1:g.14952C= , LRG_672:g.14952C=

Transcript Alleles

HGVS	Amino-acid change
ENST00000486121.7:c.*533C= (GLA)	ENSP00000501124.2:n.*533C=
ENST00000674127.2:c.*590C= (GLA)	ENSP00000501044.2:n.*590C=
ENST00000710365.1:c.1162C= (GLA)	ENSP00000518234.1:p.Arg388=
ENST00000218516.4:c.1087C= (GLA) MANE Select	ENSP00000218516.4:p.Arg363=
ENST00000466414.2:n.1223C= (GLA)
ENST00000468823.2:n.2509C= (GLA)
ENST00000479445.2:n.1701C= (GLA)
ENST00000480513.6:c.*395C= (GLA)	ENSP00000497055.1:n.*395C=
ENST00000486121.6:c.1132C= (GLA)
ENST00000649178.1:c.1210C= (GLA)	ENSP00000498186.1:p.Arg404=
ENST00000674127.1:c.1187C= (GLA)	ENSP00000501044.1:n.1187C=
ENST00000674142.1:n.1391C= (GLA)
ENST00000675592.1:c.889C= (GLA)	ENSP00000502239.1:p.Arg297=
ENST00000675799.1:c.*612C= (GLA)	ENSP00000502661.1:n.*612C=
ENST00000675968.1:n.3958C= (GLA)
ENST00000676156.1:c.1051C= (GLA)	ENSP00000501730.1:p.Arg351=
ENST00000676372.1:c.1153C= (GLA)	ENSP00000502805.1:n.1153C=
ENST00000218516.3:c.1087C= (GLA)	ENSP00000218516.3:p.Arg363=
ENST00000409170.3:c.300+2555G= (RPL36A-HNRNPH2)	ENSP00000386655.4:n.300+2555G=
ENST00000409338.5:c.177+6190G= (RPL36A-HNRNPH2)	ENSP00000386974.2:n.177+6190G=
ENST00000466414.1:n.413C= (GLA)
ENST00000493905.6:c.*475C= (GLA)	ENSP00000476935.1:n.*475C=
NM_000169.2:c.1087C= , LRG_672t1:c.1087C= (GLA)	NP_000160.1:p.Arg363=
NM_001199973.1:c.408+2555G= (RPL36A-HNRNPH2)	NP_001186902.1:n.408+2555G=
NM_001199974.1:c.285+6190G= (RPL36A-HNRNPH2)	NP_001186903.1:n.285+6190G=
XR_938397.1:n.1172C= (GLA)
XR_938397.2:n.1193C= (GLA)
NM_001199973.2:c.300+2555G= (RPL36A-HNRNPH2)	NP_001186902.2:n.300+2555G=
NM_001199974.2:c.177+6190G= (RPL36A-HNRNPH2)	NP_001186903.2:n.177+6190G=
NM_000169.3:c.1087C= (GLA) MANE Select	NP_000160.1:p.Arg363=
NR_164783.1:n.1166C= (GLA)