Canonical Allele Identifier: CA2448298224

Gene: GLA RPL36A-HNRNPH2

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.101398920G= , CM000685.2:g.101398920G=	GRCh38
NC_000023.10:g.100653908G= , CM000685.1:g.100653908G=	GRCh37
NC_000023.9:g.100540564G=	NCBI36
NG_007119.1:g.14044C= , LRG_672:g.14044C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000486121.7:c.*112C= (GLA)	ENSP00000501124.2:n.*112C=
ENST00000674127.2:c.*169C= (GLA)	ENSP00000501044.2:n.*169C=
ENST00000710365.1:c.741C= (GLA)	ENSP00000518234.1:p.Tyr247=
ENST00000218516.4:c.666C= (GLA) MANE Select	ENSP00000218516.4:p.Tyr222=
ENST00000466414.2:n.585C= (GLA)
ENST00000468823.2:n.1601C= (GLA)
ENST00000479445.2:n.1063C= (GLA)
ENST00000480513.6:c.574C= (GLA)	ENSP00000497055.1:p.Leu192=
ENST00000486121.6:c.711C= (GLA)
ENST00000649178.1:c.789C= (GLA)	ENSP00000498186.1:p.Tyr263=
ENST00000674127.1:c.766C= (GLA)	ENSP00000501044.1:n.766C=
ENST00000674142.1:n.753C= (GLA)
ENST00000674634.2:c.666C= (GLA)	ENSP00000502629.2:p.Tyr222=
ENST00000675592.1:c.666C= (GLA)	ENSP00000502239.1:p.Tyr222=
ENST00000675799.1:c.574C= (GLA)	ENSP00000502661.1:p.Leu192=
ENST00000675968.1:n.3320C= (GLA)
ENST00000676156.1:c.630C= (GLA)	ENSP00000501730.1:p.Tyr210=
ENST00000676372.1:c.666C= (GLA)	ENSP00000502805.1:p.Tyr222=
ENST00000218516.3:c.666C= (GLA)	ENSP00000218516.3:p.Tyr222=
ENST00000409170.3:c.300+3463G= (RPL36A-HNRNPH2)	ENSP00000386655.4:n.300+3463G=
ENST00000409338.5:c.177+7098G= (RPL36A-HNRNPH2)	ENSP00000386974.2:n.177+7098G=
ENST00000468823.1:n.215C= (GLA)
ENST00000480513.5:n.504C= (GLA)
ENST00000486121.5:n.711C= (GLA)
ENST00000493905.6:c.*54C= (GLA)	ENSP00000476935.1:n.*54C=
NM_000169.2:c.666C= , LRG_672t1:c.666C= (GLA)	NP_000160.1:p.Tyr222=
NM_001199973.1:c.408+3463G= (RPL36A-HNRNPH2)	NP_001186902.1:n.408+3463G=
NM_001199974.1:c.285+7098G= (RPL36A-HNRNPH2)	NP_001186903.1:n.285+7098G=
XR_938397.1:n.751C= (GLA)
XR_938397.2:n.772C= (GLA)
NM_001199973.2:c.300+3463G= (RPL36A-HNRNPH2)	NP_001186902.2:n.300+3463G=
NM_001199974.2:c.177+7098G= (RPL36A-HNRNPH2)	NP_001186903.2:n.177+7098G=
NM_000169.3:c.666C= (GLA) MANE Select	NP_000160.1:p.Tyr222=
NR_164783.1:n.745C= (GLA)