Canonical Allele Identifier: CA2448298839

Gene: GLA RPL36A-HNRNPH2

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.101400720G= , CM000685.2:g.101400720G=	GRCh38
NC_000023.10:g.100655708G= , CM000685.1:g.100655708G=	GRCh37
NC_000023.9:g.100542364G=	NCBI36
NG_007119.1:g.12244C= , LRG_672:g.12244C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000486121.7:c.*31C= (GLA)	ENSP00000501124.2:n.*31C=
ENST00000674127.2:c.*31C= (GLA)	ENSP00000501044.2:n.*31C=
ENST00000710365.1:c.660C= (GLA)	ENSP00000518234.1:p.Gly220=
ENST00000218516.4:c.585C= (GLA) MANE Select	ENSP00000218516.4:p.Gly195=
ENST00000466414.2:n.504C= (GLA)
ENST00000468823.2:n.1520C= (GLA)
ENST00000479445.2:n.982C= (GLA)
ENST00000480513.6:c.547+912C= (GLA)	ENSP00000497055.1:n.547+912C=
ENST00000486121.6:c.630C= (GLA)
ENST00000649178.1:c.708C= (GLA)	ENSP00000498186.1:p.Gly236=
ENST00000674127.1:c.628C= (GLA)	ENSP00000501044.1:n.628C=
ENST00000674142.1:n.672C= (GLA)
ENST00000674634.2:c.585C= (GLA)	ENSP00000502629.2:p.Gly195=
ENST00000675592.1:c.585C= (GLA)	ENSP00000502239.1:p.Gly195=
ENST00000675799.1:c.547+912C= (GLA)	ENSP00000502661.1:n.547+912C=
ENST00000675968.1:n.1520C= (GLA)
ENST00000676156.1:c.549C= (GLA)	ENSP00000501730.1:p.Gly183=
ENST00000676372.1:c.585C= (GLA)	ENSP00000502805.1:p.Gly195=
ENST00000218516.3:c.585C= (GLA)	ENSP00000218516.3:p.Gly195=
ENST00000409170.3:c.300+5263G= (RPL36A-HNRNPH2)	ENSP00000386655.4:n.300+5263G=
ENST00000409338.5:c.177+8898G= (RPL36A-HNRNPH2)	ENSP00000386974.2:n.177+8898G=
ENST00000468823.1:n.134C= (GLA)
ENST00000480513.5:n.477+912C= (GLA)
ENST00000486121.5:n.630C= (GLA)
ENST00000493905.6:c.585C= (GLA)	ENSP00000476935.1:p.Gly195=
NM_000169.2:c.585C= , LRG_672t1:c.585C= (GLA)	NP_000160.1:p.Gly195=
NM_001199973.1:c.408+5263G= (RPL36A-HNRNPH2)	NP_001186902.1:n.408+5263G=
NM_001199974.1:c.285+8898G= (RPL36A-HNRNPH2)	NP_001186903.1:n.285+8898G=
XR_938397.1:n.613C= (GLA)
XR_938397.2:n.634C= (GLA)
NM_001199973.2:c.300+5263G= (RPL36A-HNRNPH2)	NP_001186902.2:n.300+5263G=
NM_001199974.2:c.177+8898G= (RPL36A-HNRNPH2)	NP_001186903.2:n.177+8898G=
NM_000169.3:c.585C= (GLA) MANE Select	NP_000160.1:p.Gly195=
NR_164783.1:n.607C= (GLA)