Canonical Allele Identifier: CA2448297834

Gene: GLA RPL36A-HNRNPH2

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.101398078C= , CM000685.2:g.101398078C=	GRCh38
NC_000023.10:g.100653066C= , CM000685.1:g.100653066C=	GRCh37
NC_000023.9:g.100539722C=	NCBI36
NG_007119.1:g.14886G= , LRG_672:g.14886G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000486121.7:c.*467G= (GLA)	ENSP00000501124.2:n.*467G=
ENST00000674127.2:c.*524G= (GLA)	ENSP00000501044.2:n.*524G=
ENST00000710365.1:c.1096G= (GLA)	ENSP00000518234.1:p.Glu366=
ENST00000218516.4:c.1021G= (GLA) MANE Select	ENSP00000218516.4:p.Glu341=
ENST00000466414.2:n.1157G= (GLA)
ENST00000468823.2:n.2443G= (GLA)
ENST00000479445.2:n.1635G= (GLA)
ENST00000480513.6:c.*329G= (GLA)	ENSP00000497055.1:n.*329G=
ENST00000486121.6:c.1066G= (GLA)
ENST00000649178.1:c.1144G= (GLA)	ENSP00000498186.1:p.Glu382=
ENST00000674127.1:c.1121G= (GLA)	ENSP00000501044.1:n.1121G=
ENST00000674142.1:n.1325G= (GLA)
ENST00000675592.1:c.823G= (GLA)	ENSP00000502239.1:p.Glu275=
ENST00000675799.1:c.*546G= (GLA)	ENSP00000502661.1:n.*546G=
ENST00000675968.1:n.3892G= (GLA)
ENST00000676156.1:c.985G= (GLA)	ENSP00000501730.1:p.Glu329=
ENST00000676372.1:c.1087G= (GLA)	ENSP00000502805.1:n.1087G=
ENST00000218516.3:c.1021G= (GLA)	ENSP00000218516.3:p.Glu341=
ENST00000409170.3:c.300+2621C= (RPL36A-HNRNPH2)	ENSP00000386655.4:n.300+2621C=
ENST00000409338.5:c.177+6256C= (RPL36A-HNRNPH2)	ENSP00000386974.2:n.177+6256C=
ENST00000466414.1:n.347G= (GLA)
ENST00000493905.6:c.*409G= (GLA)	ENSP00000476935.1:n.*409G=
NM_000169.2:c.1021G= , LRG_672t1:c.1021G= (GLA)	NP_000160.1:p.Glu341=
NM_001199973.1:c.408+2621C= (RPL36A-HNRNPH2)	NP_001186902.1:n.408+2621C=
NM_001199974.1:c.285+6256C= (RPL36A-HNRNPH2)	NP_001186903.1:n.285+6256C=
XR_938397.1:n.1106G= (GLA)
XR_938397.2:n.1127G= (GLA)
NM_001199973.2:c.300+2621C= (RPL36A-HNRNPH2)	NP_001186902.2:n.300+2621C=
NM_001199974.2:c.177+6256C= (RPL36A-HNRNPH2)	NP_001186903.2:n.177+6256C=
NM_000169.3:c.1021G= (GLA) MANE Select	NP_000160.1:p.Glu341=
NR_164783.1:n.1100G= (GLA)