Canonical Allele Identifier: CA2579664248

Gene: GLA RPL36A-HNRNPH2

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.101400632A>T , CM000685.2:g.101400632A>T	GRCh38
NC_000023.10:g.100655620A>T , CM000685.1:g.100655620A>T	GRCh37
NC_000023.9:g.100542276A>T	NCBI36
NG_007119.1:g.12332T>A , LRG_672:g.12332T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000486121.7:c.*85+34T>A (GLA)	ENSP00000501124.2:n.*85+34T>A
ENST00000674127.2:c.*85+34T>A (GLA)	ENSP00000501044.2:n.*85+34T>A
ENST00000710365.1:c.714+34T>A (GLA)	ENSP00000518234.1:n.714+34T>A
ENST00000218516.4:c.639+34T>A (GLA) MANE Select	ENSP00000218516.4:n.639+34T>A
ENST00000466414.2:n.558+34T>A (GLA)
ENST00000468823.2:n.1574+34T>A (GLA)
ENST00000479445.2:n.1036+34T>A (GLA)
ENST00000480513.6:c.547+1000T>A (GLA)	ENSP00000497055.1:n.547+1000T>A
ENST00000486121.6:c.684+34T>A (GLA)
ENST00000649178.1:c.762+34T>A (GLA)	ENSP00000498186.1:n.762+34T>A
ENST00000674127.1:c.682+34T>A (GLA)	ENSP00000501044.1:n.682+34T>A
ENST00000674142.1:n.726+34T>A (GLA)
ENST00000674634.2:c.639+34T>A (GLA)	ENSP00000502629.2:n.639+34T>A
ENST00000675592.1:c.639+34T>A (GLA)	ENSP00000502239.1:n.639+34T>A
ENST00000675799.1:c.547+1000T>A (GLA)	ENSP00000502661.1:n.547+1000T>A
ENST00000675968.1:n.1608T>A (GLA)
ENST00000676156.1:c.603+34T>A (GLA)	ENSP00000501730.1:n.603+34T>A
ENST00000676372.1:c.639+34T>A (GLA)	ENSP00000502805.1:n.639+34T>A
ENST00000218516.3:c.639+34T>A (GLA)	ENSP00000218516.3:n.639+34T>A
ENST00000409170.3:c.300+5175A>T (RPL36A-HNRNPH2)	ENSP00000386655.4:n.300+5175A>T
ENST00000409338.5:c.177+8810A>T (RPL36A-HNRNPH2)	ENSP00000386974.2:n.177+8810A>T
ENST00000468823.1:n.188+34T>A (GLA)
ENST00000480513.5:n.477+1000T>A (GLA)
ENST00000486121.5:n.684+34T>A (GLA)
ENST00000493905.6:c.639+34T>A (GLA)	ENSP00000476935.1:n.639+34T>A
NM_000169.2:c.639+34T>A , LRG_672t1:c.639+34T>A (GLA)	NP_000160.1:n.639+34T>A
NM_001199973.1:c.408+5175A>T (RPL36A-HNRNPH2)	NP_001186902.1:n.408+5175A>T
NM_001199974.1:c.285+8810A>T (RPL36A-HNRNPH2)	NP_001186903.1:n.285+8810A>T
XR_938397.1:n.667+34T>A (GLA)
XR_938397.2:n.688+34T>A (GLA)
NM_001199973.2:c.300+5175A>T (RPL36A-HNRNPH2)	NP_001186902.2:n.300+5175A>T
NM_001199974.2:c.177+8810A>T (RPL36A-HNRNPH2)	NP_001186903.2:n.177+8810A>T
NM_000169.3:c.639+34T>A (GLA) MANE Select	NP_000160.1:n.639+34T>A
NR_164783.1:n.661+34T>A (GLA)