Canonical Allele Identifier: CA2448297465

Gene: GLA RPL36A-HNRNPH2

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.101397914C= , CM000685.2:g.101397914C=	GRCh38
NC_000023.10:g.100652902C= , CM000685.1:g.100652902C=	GRCh37
NC_000023.9:g.100539558C=	NCBI36
NG_007119.1:g.15050G= , LRG_672:g.15050G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000674127.2:c.*688G= (GLA)	ENSP00000501044.2:n.*688G=
ENST00000710365.1:c.1260G= (GLA)	ENSP00000518234.1:p.Gly420=
ENST00000218516.4:c.1185G= (GLA) MANE Select	ENSP00000218516.4:p.Gly395=
ENST00000466414.2:n.1321G= (GLA)
ENST00000468823.2:n.2607G= (GLA)
ENST00000479445.2:n.1799G= (GLA)
ENST00000649178.1:c.1308G= (GLA)	ENSP00000498186.1:p.Gly436=
ENST00000674127.1:c.1285G= (GLA)	ENSP00000501044.1:n.1285G=
ENST00000674142.1:n.1421+68G= (GLA)
ENST00000675592.1:c.987G= (GLA)	ENSP00000502239.1:p.Gly329=
ENST00000675799.1:c.*710G= (GLA)	ENSP00000502661.1:n.*710G=
ENST00000675968.1:n.4056G= (GLA)
ENST00000676156.1:c.1149G= (GLA)	ENSP00000501730.1:p.Gly383=
ENST00000676372.1:c.1251G= (GLA)	ENSP00000502805.1:n.1251G=
ENST00000218516.3:c.1185G= (GLA)	ENSP00000218516.3:p.Gly395=
ENST00000409170.3:c.300+2457C= (RPL36A-HNRNPH2)	ENSP00000386655.4:n.300+2457C=
ENST00000409338.5:c.177+6092C= (RPL36A-HNRNPH2)	ENSP00000386974.2:n.177+6092C=
ENST00000466414.1:n.511G= (GLA)
ENST00000493905.6:c.*573G= (GLA)	ENSP00000476935.1:n.*573G=
NM_000169.2:c.1185G= , LRG_672t1:c.1185G= (GLA)	NP_000160.1:p.Gly395=
NM_001199973.1:c.408+2457C= (RPL36A-HNRNPH2)	NP_001186902.1:n.408+2457C=
NM_001199974.1:c.285+6092C= (RPL36A-HNRNPH2)	NP_001186903.1:n.285+6092C=
XR_938397.1:n.1270G= (GLA)
XR_938397.2:n.1291G= (GLA)
NM_001199973.2:c.300+2457C= (RPL36A-HNRNPH2)	NP_001186902.2:n.300+2457C=
NM_001199974.2:c.177+6092C= (RPL36A-HNRNPH2)	NP_001186903.2:n.177+6092C=
NM_000169.3:c.1185G= (GLA) MANE Select	NP_000160.1:p.Gly395=
NR_164783.1:n.1264G= (GLA)