Canonical Allele Identifier: CA2448297512

Gene: GLA RPL36A-HNRNPH2

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.101397931C= , CM000685.2:g.101397931C=	GRCh38
NC_000023.10:g.100652919C= , CM000685.1:g.100652919C=	GRCh37
NC_000023.9:g.100539575C=	NCBI36
NG_007119.1:g.15033G= , LRG_672:g.15033G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000674127.2:c.*671G= (GLA)	ENSP00000501044.2:n.*671G=
ENST00000710365.1:c.1243G= (GLA)	ENSP00000518234.1:p.Val415=
ENST00000218516.4:c.1168G= (GLA) MANE Select	ENSP00000218516.4:p.Val390=
ENST00000466414.2:n.1304G= (GLA)
ENST00000468823.2:n.2590G= (GLA)
ENST00000479445.2:n.1782G= (GLA)
ENST00000649178.1:c.1291G= (GLA)	ENSP00000498186.1:p.Val431=
ENST00000674127.1:c.1268G= (GLA)	ENSP00000501044.1:n.1268G=
ENST00000674142.1:n.1421+51G= (GLA)
ENST00000675592.1:c.970G= (GLA)	ENSP00000502239.1:p.Val324=
ENST00000675799.1:c.*693G= (GLA)	ENSP00000502661.1:n.*693G=
ENST00000675968.1:n.4039G= (GLA)
ENST00000676156.1:c.1132G= (GLA)	ENSP00000501730.1:p.Val378=
ENST00000676372.1:c.1234G= (GLA)	ENSP00000502805.1:n.1234G=
ENST00000218516.3:c.1168G= (GLA)	ENSP00000218516.3:p.Val390=
ENST00000409170.3:c.300+2474C= (RPL36A-HNRNPH2)	ENSP00000386655.4:n.300+2474C=
ENST00000409338.5:c.177+6109C= (RPL36A-HNRNPH2)	ENSP00000386974.2:n.177+6109C=
ENST00000466414.1:n.494G= (GLA)
ENST00000493905.6:c.*556G= (GLA)	ENSP00000476935.1:n.*556G=
NM_000169.2:c.1168G= , LRG_672t1:c.1168G= (GLA)	NP_000160.1:p.Val390=
NM_001199973.1:c.408+2474C= (RPL36A-HNRNPH2)	NP_001186902.1:n.408+2474C=
NM_001199974.1:c.285+6109C= (RPL36A-HNRNPH2)	NP_001186903.1:n.285+6109C=
XR_938397.1:n.1253G= (GLA)
XR_938397.2:n.1274G= (GLA)
NM_001199973.2:c.300+2474C= (RPL36A-HNRNPH2)	NP_001186902.2:n.300+2474C=
NM_001199974.2:c.177+6109C= (RPL36A-HNRNPH2)	NP_001186903.2:n.177+6109C=
NM_000169.3:c.1168G= (GLA) MANE Select	NP_000160.1:p.Val390=
NR_164783.1:n.1247G= (GLA)