Canonical Allele Identifier: CA2448298482

Gene: GLA RPL36A-HNRNPH2

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.101399747C= , CM000685.2:g.101399747C=	GRCh38
NC_000023.10:g.100654735C= , CM000685.1:g.100654735C=	GRCh37
NC_000023.9:g.100541391C=	NCBI36
NG_007119.1:g.13217G= , LRG_672:g.13217G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000486121.7:c.*86-801G= (GLA)	ENSP00000501124.2:n.*86-801G=
ENST00000674127.2:c.*139G= (GLA)	ENSP00000501044.2:n.*139G=
ENST00000710365.1:c.715-801G= (GLA)	ENSP00000518234.1:n.715-801G=
ENST00000218516.4:c.640-801G= (GLA) MANE Select	ENSP00000218516.4:n.640-801G=
ENST00000466414.2:n.559-801G= (GLA)
ENST00000468823.2:n.1575-801G= (GLA)
ENST00000479445.2:n.1037-801G= (GLA)
ENST00000480513.6:c.548-801G= (GLA)	ENSP00000497055.1:n.548-801G=
ENST00000486121.6:c.685-801G= (GLA)
ENST00000649178.1:c.763-801G= (GLA)	ENSP00000498186.1:n.763-801G=
ENST00000674127.1:c.736G= (GLA)	ENSP00000501044.1:n.736G=
ENST00000674142.1:n.727-801G= (GLA)
ENST00000674634.2:c.640-801G= (GLA)	ENSP00000502629.2:n.640-801G=
ENST00000675592.1:c.640-801G= (GLA)	ENSP00000502239.1:n.640-801G=
ENST00000675799.1:c.548-801G= (GLA)	ENSP00000502661.1:n.548-801G=
ENST00000675968.1:n.2493G= (GLA)
ENST00000676156.1:c.604-801G= (GLA)	ENSP00000501730.1:n.604-801G=
ENST00000676372.1:c.640-801G= (GLA)	ENSP00000502805.1:n.640-801G=
ENST00000218516.3:c.640-801G= (GLA)	ENSP00000218516.3:n.640-801G=
ENST00000409170.3:c.300+4290C= (RPL36A-HNRNPH2)	ENSP00000386655.4:n.300+4290C=
ENST00000409338.5:c.177+7925C= (RPL36A-HNRNPH2)	ENSP00000386974.2:n.177+7925C=
ENST00000468823.1:n.189-801G= (GLA)
ENST00000480513.5:n.478-801G= (GLA)
ENST00000486121.5:n.685-801G= (GLA)
ENST00000493905.6:c.*24G= (GLA)	ENSP00000476935.1:n.*24G=
NM_000169.2:c.640-801G= , LRG_672t1:c.640-801G= (GLA)	NP_000160.1:n.640-801G=
NM_001199973.1:c.408+4290C= (RPL36A-HNRNPH2)	NP_001186902.1:n.408+4290C=
NM_001199974.1:c.285+7925C= (RPL36A-HNRNPH2)	NP_001186903.1:n.285+7925C=
XR_938397.1:n.721G= (GLA)
XR_938397.2:n.742G= (GLA)
NM_001199973.2:c.300+4290C= (RPL36A-HNRNPH2)	NP_001186902.2:n.300+4290C=
NM_001199974.2:c.177+7925C= (RPL36A-HNRNPH2)	NP_001186903.2:n.177+7925C=
NM_000169.3:c.640-801G= (GLA) MANE Select	NP_000160.1:n.640-801G=
NR_164783.1:n.715G= (GLA)