Canonical Allele Identifier: CA2448297448

Gene: GLA RPL36A-HNRNPH2

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.101397907C= , CM000685.2:g.101397907C=	GRCh38
NC_000023.10:g.100652895C= , CM000685.1:g.100652895C=	GRCh37
NC_000023.9:g.100539551C=	NCBI36
NG_007119.1:g.15057G= , LRG_672:g.15057G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000674127.2:c.*695G= (GLA)	ENSP00000501044.2:n.*695G=
ENST00000710365.1:c.1267G= (GLA)	ENSP00000518234.1:p.Glu423=
ENST00000218516.4:c.1192G= (GLA) MANE Select	ENSP00000218516.4:p.Glu398=
ENST00000466414.2:n.1328G= (GLA)
ENST00000468823.2:n.2614G= (GLA)
ENST00000479445.2:n.1806G= (GLA)
ENST00000649178.1:c.1315G= (GLA)	ENSP00000498186.1:p.Glu439=
ENST00000674127.1:c.1292G= (GLA)	ENSP00000501044.1:n.1292G=
ENST00000674142.1:n.1421+75G= (GLA)
ENST00000675592.1:c.994G= (GLA)	ENSP00000502239.1:p.Glu332=
ENST00000675799.1:c.*717G= (GLA)	ENSP00000502661.1:n.*717G=
ENST00000675968.1:n.4063G= (GLA)
ENST00000676156.1:c.1156G= (GLA)	ENSP00000501730.1:p.Glu386=
ENST00000676372.1:c.1258G= (GLA)	ENSP00000502805.1:n.1258G=
ENST00000218516.3:c.1192G= (GLA)	ENSP00000218516.3:p.Glu398=
ENST00000409170.3:c.300+2450C= (RPL36A-HNRNPH2)	ENSP00000386655.4:n.300+2450C=
ENST00000409338.5:c.177+6085C= (RPL36A-HNRNPH2)	ENSP00000386974.2:n.177+6085C=
ENST00000466414.1:n.518G= (GLA)
ENST00000493905.6:c.*580G= (GLA)	ENSP00000476935.1:n.*580G=
NM_000169.2:c.1192G= , LRG_672t1:c.1192G= (GLA)	NP_000160.1:p.Glu398=
NM_001199973.1:c.408+2450C= (RPL36A-HNRNPH2)	NP_001186902.1:n.408+2450C=
NM_001199974.1:c.285+6085C= (RPL36A-HNRNPH2)	NP_001186903.1:n.285+6085C=
XR_938397.1:n.1277G= (GLA)
XR_938397.2:n.1298G= (GLA)
NM_001199973.2:c.300+2450C= (RPL36A-HNRNPH2)	NP_001186902.2:n.300+2450C=
NM_001199974.2:c.177+6085C= (RPL36A-HNRNPH2)	NP_001186903.2:n.177+6085C=
NM_000169.3:c.1192G= (GLA) MANE Select	NP_000160.1:p.Glu398=
NR_164783.1:n.1271G= (GLA)