Canonical Allele Identifier: CA413928004

Gene: GLA RPL36A-HNRNPH2

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.101400757C>T , CM000685.2:g.101400757C>T	GRCh38
NC_000023.10:g.100655745C>T , CM000685.1:g.100655745C>T	GRCh37
NC_000023.9:g.100542401C>T	NCBI36
NG_007119.1:g.12207G>A , LRG_672:g.12207G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_000169.3:c.548G>A (GLA) MANE Select	NP_000160.1:p.Gly183Asp
ENST00000218516.4:c.548G>A (GLA) MANE Select	ENSP00000218516.4:p.Gly183Asp
NM_000169.2:c.548G>A , LRG_672t1:c.548G>A (GLA)	NP_000160.1:p.Gly183Asp
NM_001199973.1:c.408+5300C>T (RPL36A-HNRNPH2)	NP_001186902.1:n.408+5300C>T
NM_001199973.2:c.300+5300C>T (RPL36A-HNRNPH2)	NP_001186902.2:n.300+5300C>T
NM_001199974.1:c.285+8935C>T (RPL36A-HNRNPH2)	NP_001186903.1:n.285+8935C>T
NM_001199974.2:c.177+8935C>T (RPL36A-HNRNPH2)	NP_001186903.2:n.177+8935C>T
NR_164783.1:n.570G>A (GLA)
ENST00000218516.3:c.548G>A (GLA)	ENSP00000218516.3:p.Gly183Asp
ENST00000409170.3:c.300+5300C>T (RPL36A-HNRNPH2)	ENSP00000386655.4:n.300+5300C>T
ENST00000409338.5:c.177+8935C>T (RPL36A-HNRNPH2)	ENSP00000386974.2:n.177+8935C>T
ENST00000466414.2:n.467G>A (GLA)
ENST00000468823.1:n.97G>A (GLA)
ENST00000468823.2:n.1483G>A (GLA)
ENST00000479445.2:n.945G>A (GLA)
ENST00000480513.5:n.477+875G>A (GLA)
ENST00000480513.6:c.547+875G>A (GLA)	ENSP00000497055.1:n.547+875G>A
ENST00000486121.5:n.593G>A (GLA)
ENST00000486121.6:c.593G>A (GLA)
ENST00000486121.7:c.663G>A (GLA)	ENSP00000501124.2:p.Arg221=
ENST00000493905.6:c.548G>A (GLA)	ENSP00000476935.1:p.Gly183Asp
ENST00000649178.1:c.671G>A (GLA)	ENSP00000498186.1:p.Gly224Asp
ENST00000674127.1:c.591G>A (GLA)	ENSP00000501044.1:p.Arg197=
ENST00000674127.2:c.663G>A (GLA)	ENSP00000501044.2:p.Arg221=
ENST00000674142.1:n.635G>A (GLA)
ENST00000674634.2:c.548G>A (GLA)	ENSP00000502629.2:p.Gly183Asp
ENST00000675592.1:c.548G>A (GLA)	ENSP00000502239.1:p.Gly183Asp
ENST00000675799.1:c.547+875G>A (GLA)	ENSP00000502661.1:n.547+875G>A
ENST00000675968.1:n.1483G>A (GLA)
ENST00000676156.1:c.512G>A (GLA)	ENSP00000501730.1:p.Gly171Asp
ENST00000676372.1:c.548G>A (GLA)	ENSP00000502805.1:p.Gly183Asp
ENST00000710365.1:c.623G>A (GLA)	ENSP00000518234.1:p.Gly208Asp
XR_938397.1:n.576G>A (GLA)
XR_938397.2:n.597G>A (GLA)