Canonical Allele Identifier: CA352808

Gene: GLA RPL36A-HNRNPH2

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.101398506G>T , CM000685.2:g.101398506G>T	GRCh38
NC_000023.10:g.100653494G>T , CM000685.1:g.100653494G>T	GRCh37
NC_000023.9:g.100540150G>T	NCBI36
NG_007119.1:g.14458C>A , LRG_672:g.14458C>A

Transcript Alleles

HGVS	Amino-acid Change
NM_000169.3:c.863C>A (GLA) MANE Select	NP_000160.1:p.Ala288Asp
ENST00000218516.4:c.863C>A (GLA) MANE Select	ENSP00000218516.4:p.Ala288Asp
NM_000169.2:c.863C>A , LRG_672t1:c.863C>A (GLA)	NP_000160.1:p.Ala288Asp
NM_001199973.1:c.408+3049G>T (RPL36A-HNRNPH2)	NP_001186902.1:n.408+3049G>T
NM_001199973.2:c.300+3049G>T (RPL36A-HNRNPH2)	NP_001186902.2:n.300+3049G>T
NM_001199974.1:c.285+6684G>T (RPL36A-HNRNPH2)	NP_001186903.1:n.285+6684G>T
NM_001199974.2:c.177+6684G>T (RPL36A-HNRNPH2)	NP_001186903.2:n.177+6684G>T
NR_164783.1:n.942C>A (GLA)
ENST00000218516.3:c.863C>A (GLA)	ENSP00000218516.3:p.Ala288Asp
ENST00000409170.3:c.300+3049G>T (RPL36A-HNRNPH2)	ENSP00000386655.4:n.300+3049G>T
ENST00000409338.5:c.177+6684G>T (RPL36A-HNRNPH2)	ENSP00000386974.2:n.177+6684G>T
ENST00000466414.1:n.189C>A (GLA)
ENST00000466414.2:n.999C>A (GLA)
ENST00000468823.2:n.2015C>A (GLA)
ENST00000479445.2:n.1477C>A (GLA)
ENST00000480513.6:c.*171C>A (GLA)	ENSP00000497055.1:n.*171C>A
ENST00000486121.6:c.908C>A (GLA)
ENST00000486121.7:c.*309C>A (GLA)	ENSP00000501124.2:n.*309C>A
ENST00000493905.6:c.*251C>A (GLA)	ENSP00000476935.1:n.*251C>A
ENST00000649178.1:c.986C>A (GLA)	ENSP00000498186.1:p.Ala329Asp
ENST00000674127.1:c.963C>A (GLA)	ENSP00000501044.1:n.963C>A
ENST00000674127.2:c.*366C>A (GLA)	ENSP00000501044.2:n.*366C>A
ENST00000674142.1:n.1167C>A (GLA)
ENST00000674634.2:c.863C>A (GLA)	ENSP00000502629.2:p.Ala288Asp
ENST00000675592.1:c.801+279C>A (GLA)	ENSP00000502239.1:n.801+279C>A
ENST00000675799.1:c.*388C>A (GLA)	ENSP00000502661.1:n.*388C>A
ENST00000675968.1:n.3734C>A (GLA)
ENST00000676156.1:c.827C>A (GLA)	ENSP00000501730.1:p.Ala276Asp
ENST00000676372.1:c.929C>A (GLA)	ENSP00000502805.1:n.929C>A
ENST00000710365.1:c.938C>A (GLA)	ENSP00000518234.1:p.Ala313Asp
XR_938397.1:n.948C>A (GLA)
XR_938397.2:n.969C>A (GLA)