Canonical Allele Identifier: CA2448298057

Gene: GLA RPL36A-HNRNPH2

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.101398546G= , CM000685.2:g.101398546G=	GRCh38
NC_000023.10:g.100653534G= , CM000685.1:g.100653534G=	GRCh37
NC_000023.9:g.100540190G=	NCBI36
NG_007119.1:g.14418C= , LRG_672:g.14418C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000486121.7:c.*269C= (GLA)	ENSP00000501124.2:n.*269C=
ENST00000674127.2:c.*326C= (GLA)	ENSP00000501044.2:n.*326C=
ENST00000710365.1:c.898C= (GLA)	ENSP00000518234.1:p.Leu300=
ENST00000218516.4:c.823C= (GLA) MANE Select	ENSP00000218516.4:p.Leu275=
ENST00000466414.2:n.959C= (GLA)
ENST00000468823.2:n.1975C= (GLA)
ENST00000479445.2:n.1437C= (GLA)
ENST00000480513.6:c.*131C= (GLA)	ENSP00000497055.1:n.*131C=
ENST00000486121.6:c.868C= (GLA)
ENST00000649178.1:c.946C= (GLA)	ENSP00000498186.1:p.Leu316=
ENST00000674127.1:c.923C= (GLA)	ENSP00000501044.1:n.923C=
ENST00000674142.1:n.1127C= (GLA)
ENST00000674634.2:c.823C= (GLA)	ENSP00000502629.2:p.Leu275=
ENST00000675592.1:c.801+239C= (GLA)	ENSP00000502239.1:n.801+239C=
ENST00000675799.1:c.*348C= (GLA)	ENSP00000502661.1:n.*348C=
ENST00000675968.1:n.3694C= (GLA)
ENST00000676156.1:c.787C= (GLA)	ENSP00000501730.1:p.Leu263=
ENST00000676372.1:c.889C= (GLA)	ENSP00000502805.1:n.889C=
ENST00000218516.3:c.823C= (GLA)	ENSP00000218516.3:p.Leu275=
ENST00000409170.3:c.300+3089G= (RPL36A-HNRNPH2)	ENSP00000386655.4:n.300+3089G=
ENST00000409338.5:c.177+6724G= (RPL36A-HNRNPH2)	ENSP00000386974.2:n.177+6724G=
ENST00000466414.1:n.149C= (GLA)
ENST00000468823.1:n.589C= (GLA)
ENST00000493905.6:c.*211C= (GLA)	ENSP00000476935.1:n.*211C=
NM_000169.2:c.823C= , LRG_672t1:c.823C= (GLA)	NP_000160.1:p.Leu275=
NM_001199973.1:c.408+3089G= (RPL36A-HNRNPH2)	NP_001186902.1:n.408+3089G=
NM_001199974.1:c.285+6724G= (RPL36A-HNRNPH2)	NP_001186903.1:n.285+6724G=
XR_938397.1:n.908C= (GLA)
XR_938397.2:n.929C= (GLA)
NM_001199973.2:c.300+3089G= (RPL36A-HNRNPH2)	NP_001186902.2:n.300+3089G=
NM_001199974.2:c.177+6724G= (RPL36A-HNRNPH2)	NP_001186903.2:n.177+6724G=
NM_000169.3:c.823C= (GLA) MANE Select	NP_000160.1:p.Leu275=
NR_164783.1:n.902C= (GLA)