Canonical Allele Identifier: CA2448298187

Gene: GLA RPL36A-HNRNPH2

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.101398861A= , CM000685.2:g.101398861A=	GRCh38
NC_000023.10:g.100653849A= , CM000685.1:g.100653849A=	GRCh37
NC_000023.9:g.100540505A=	NCBI36
NG_007119.1:g.14103T= , LRG_672:g.14103T=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000486121.7:c.*171T= (GLA)	ENSP00000501124.2:n.*171T=
ENST00000674127.2:c.*228T= (GLA)	ENSP00000501044.2:n.*228T=
ENST00000710365.1:c.800T= (GLA)	ENSP00000518234.1:p.Ile267=
ENST00000218516.4:c.725T= (GLA) MANE Select	ENSP00000218516.4:p.Ile242=
ENST00000466414.2:n.644T= (GLA)
ENST00000468823.2:n.1660T= (GLA)
ENST00000479445.2:n.1122T= (GLA)
ENST00000480513.6:c.*33T= (GLA)	ENSP00000497055.1:n.*33T=
ENST00000486121.6:c.770T= (GLA)
ENST00000649178.1:c.848T= (GLA)	ENSP00000498186.1:p.Ile283=
ENST00000674127.1:c.825T= (GLA)	ENSP00000501044.1:n.825T=
ENST00000674142.1:n.812T= (GLA)
ENST00000674634.2:c.725T= (GLA)	ENSP00000502629.2:p.Ile242=
ENST00000675592.1:c.725T= (GLA)	ENSP00000502239.1:p.Ile242=
ENST00000675799.1:c.*33T= (GLA)	ENSP00000502661.1:n.*33T=
ENST00000675968.1:n.3379T= (GLA)
ENST00000676156.1:c.689T= (GLA)	ENSP00000501730.1:p.Ile230=
ENST00000676372.1:c.725T= (GLA)	ENSP00000502805.1:p.Ile242=
ENST00000218516.3:c.725T= (GLA)	ENSP00000218516.3:p.Ile242=
ENST00000409170.3:c.300+3404A= (RPL36A-HNRNPH2)	ENSP00000386655.4:n.300+3404A=
ENST00000409338.5:c.177+7039A= (RPL36A-HNRNPH2)	ENSP00000386974.2:n.177+7039A=
ENST00000468823.1:n.274T= (GLA)
ENST00000480513.5:n.563T= (GLA)
ENST00000493905.6:c.*113T= (GLA)	ENSP00000476935.1:n.*113T=
NM_000169.2:c.725T= , LRG_672t1:c.725T= (GLA)	NP_000160.1:p.Ile242=
NM_001199973.1:c.408+3404A= (RPL36A-HNRNPH2)	NP_001186902.1:n.408+3404A=
NM_001199974.1:c.285+7039A= (RPL36A-HNRNPH2)	NP_001186903.1:n.285+7039A=
XR_938397.1:n.810T= (GLA)
XR_938397.2:n.831T= (GLA)
NM_001199973.2:c.300+3404A= (RPL36A-HNRNPH2)	NP_001186902.2:n.300+3404A=
NM_001199974.2:c.177+7039A= (RPL36A-HNRNPH2)	NP_001186903.2:n.177+7039A=
NM_000169.3:c.725T= (GLA) MANE Select	NP_000160.1:p.Ile242=
NR_164783.1:n.804T= (GLA)