Canonical Allele Identifier: CA2448297634

Gene: GLA RPL36A-HNRNPH2

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.101398004A= , CM000685.2:g.101398004A=	GRCh38
NC_000023.10:g.100652992A= , CM000685.1:g.100652992A=	GRCh37
NC_000023.9:g.100539648A=	NCBI36
NG_007119.1:g.14960T= , LRG_672:g.14960T=

Transcript Alleles

HGVS	Amino-acid change
ENST00000486121.7:c.*541T= (GLA)	ENSP00000501124.2:n.*541T=
ENST00000674127.2:c.*598T= (GLA)	ENSP00000501044.2:n.*598T=
ENST00000710365.1:c.1170T= (GLA)	ENSP00000518234.1:p.Tyr390=
ENST00000218516.4:c.1095T= (GLA) MANE Select	ENSP00000218516.4:p.Tyr365=
ENST00000466414.2:n.1231T= (GLA)
ENST00000468823.2:n.2517T= (GLA)
ENST00000479445.2:n.1709T= (GLA)
ENST00000480513.6:c.*403T= (GLA)	ENSP00000497055.1:n.*403T=
ENST00000486121.6:c.1140T= (GLA)
ENST00000649178.1:c.1218T= (GLA)	ENSP00000498186.1:p.Tyr406=
ENST00000674127.1:c.1195T= (GLA)	ENSP00000501044.1:n.1195T=
ENST00000674142.1:n.1399T= (GLA)
ENST00000675592.1:c.897T= (GLA)	ENSP00000502239.1:p.Tyr299=
ENST00000675799.1:c.*620T= (GLA)	ENSP00000502661.1:n.*620T=
ENST00000675968.1:n.3966T= (GLA)
ENST00000676156.1:c.1059T= (GLA)	ENSP00000501730.1:p.Tyr353=
ENST00000676372.1:c.1161T= (GLA)	ENSP00000502805.1:n.1161T=
ENST00000218516.3:c.1095T= (GLA)	ENSP00000218516.3:p.Tyr365=
ENST00000409170.3:c.300+2547A= (RPL36A-HNRNPH2)	ENSP00000386655.4:n.300+2547A=
ENST00000409338.5:c.177+6182A= (RPL36A-HNRNPH2)	ENSP00000386974.2:n.177+6182A=
ENST00000466414.1:n.421T= (GLA)
ENST00000493905.6:c.*483T= (GLA)	ENSP00000476935.1:n.*483T=
NM_000169.2:c.1095T= , LRG_672t1:c.1095T= (GLA)	NP_000160.1:p.Tyr365=
NM_001199973.1:c.408+2547A= (RPL36A-HNRNPH2)	NP_001186902.1:n.408+2547A=
NM_001199974.1:c.285+6182A= (RPL36A-HNRNPH2)	NP_001186903.1:n.285+6182A=
XR_938397.1:n.1180T= (GLA)
XR_938397.2:n.1201T= (GLA)
NM_001199973.2:c.300+2547A= (RPL36A-HNRNPH2)	NP_001186902.2:n.300+2547A=
NM_001199974.2:c.177+6182A= (RPL36A-HNRNPH2)	NP_001186903.2:n.177+6182A=
NM_000169.3:c.1095T= (GLA) MANE Select	NP_000160.1:p.Tyr365=
NR_164783.1:n.1174T= (GLA)