Canonical Allele Identifier: CA2448298062

Gene: GLA RPL36A-HNRNPH2

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.101398558C= , CM000685.2:g.101398558C=	GRCh38
NC_000023.10:g.100653546C= , CM000685.1:g.100653546C=	GRCh37
NC_000023.9:g.100540202C=	NCBI36
NG_007119.1:g.14406G= , LRG_672:g.14406G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000486121.7:c.*257G= (GLA)	ENSP00000501124.2:n.*257G=
ENST00000674127.2:c.*314G= (GLA)	ENSP00000501044.2:n.*314G=
ENST00000710365.1:c.886G= (GLA)	ENSP00000518234.1:p.Gly296=
ENST00000218516.4:c.811G= (GLA) MANE Select	ENSP00000218516.4:p.Gly271=
ENST00000466414.2:n.947G= (GLA)
ENST00000468823.2:n.1963G= (GLA)
ENST00000479445.2:n.1425G= (GLA)
ENST00000480513.6:c.*119G= (GLA)	ENSP00000497055.1:n.*119G=
ENST00000486121.6:c.856G= (GLA)
ENST00000649178.1:c.934G= (GLA)	ENSP00000498186.1:p.Gly312=
ENST00000674127.1:c.911G= (GLA)	ENSP00000501044.1:n.911G=
ENST00000674142.1:n.1115G= (GLA)
ENST00000674634.2:c.811G= (GLA)	ENSP00000502629.2:p.Gly271=
ENST00000675592.1:c.801+227G= (GLA)	ENSP00000502239.1:n.801+227G=
ENST00000675799.1:c.*336G= (GLA)	ENSP00000502661.1:n.*336G=
ENST00000675968.1:n.3682G= (GLA)
ENST00000676156.1:c.775G= (GLA)	ENSP00000501730.1:p.Gly259=
ENST00000676372.1:c.877G= (GLA)	ENSP00000502805.1:n.877G=
ENST00000218516.3:c.811G= (GLA)	ENSP00000218516.3:p.Gly271=
ENST00000409170.3:c.300+3101C= (RPL36A-HNRNPH2)	ENSP00000386655.4:n.300+3101C=
ENST00000409338.5:c.177+6736C= (RPL36A-HNRNPH2)	ENSP00000386974.2:n.177+6736C=
ENST00000466414.1:n.137G= (GLA)
ENST00000468823.1:n.577G= (GLA)
ENST00000493905.6:c.*199G= (GLA)	ENSP00000476935.1:n.*199G=
NM_000169.2:c.811G= , LRG_672t1:c.811G= (GLA)	NP_000160.1:p.Gly271=
NM_001199973.1:c.408+3101C= (RPL36A-HNRNPH2)	NP_001186902.1:n.408+3101C=
NM_001199974.1:c.285+6736C= (RPL36A-HNRNPH2)	NP_001186903.1:n.285+6736C=
XR_938397.1:n.896G= (GLA)
XR_938397.2:n.917G= (GLA)
NM_001199973.2:c.300+3101C= (RPL36A-HNRNPH2)	NP_001186902.2:n.300+3101C=
NM_001199974.2:c.177+6736C= (RPL36A-HNRNPH2)	NP_001186903.2:n.177+6736C=
NM_000169.3:c.811G= (GLA) MANE Select	NP_000160.1:p.Gly271=
NR_164783.1:n.890G= (GLA)