Canonical Allele Identifier: CA413922561

Gene: GLA RPL36A-HNRNPH2

Linked Data

• MyVariant Identifiers: chrX:g.100653477A>T (hg19) ; chrX:g.101398489A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.101398489A>T , CM000685.2:g.101398489A>T	GRCh38
NC_000023.10:g.100653477A>T , CM000685.1:g.100653477A>T	GRCh37
NC_000023.9:g.100540133A>T	NCBI36
NG_007119.1:g.14475T>A , LRG_672:g.14475T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000486121.7:c.*326T>A (GLA)	ENSP00000501124.2:n.*326T>A
ENST00000674127.2:c.*383T>A (GLA)	ENSP00000501044.2:n.*383T>A
ENST00000710365.1:c.955T>A (GLA)	ENSP00000518234.1:p.Leu319Ile
ENST00000218516.4:c.880T>A (GLA) MANE Select	ENSP00000218516.4:p.Leu294Ile
ENST00000466414.2:n.1016T>A (GLA)
ENST00000468823.2:n.2032T>A (GLA)
ENST00000479445.2:n.1494T>A (GLA)
ENST00000480513.6:c.*188T>A (GLA)	ENSP00000497055.1:n.*188T>A
ENST00000486121.6:c.925T>A (GLA)
ENST00000649178.1:c.1003T>A (GLA)	ENSP00000498186.1:p.Leu335Ile
ENST00000674127.1:c.980T>A (GLA)	ENSP00000501044.1:n.980T>A
ENST00000674142.1:n.1184T>A (GLA)
ENST00000674634.2:c.880T>A (GLA)	ENSP00000502629.2:p.Leu294Ile
ENST00000675592.1:c.801+296T>A (GLA)	ENSP00000502239.1:n.801+296T>A
ENST00000675799.1:c.*405T>A (GLA)	ENSP00000502661.1:n.*405T>A
ENST00000675968.1:n.3751T>A (GLA)
ENST00000676156.1:c.844T>A (GLA)	ENSP00000501730.1:p.Leu282Ile
ENST00000676372.1:c.946T>A (GLA)	ENSP00000502805.1:n.946T>A
ENST00000218516.3:c.880T>A (GLA)	ENSP00000218516.3:p.Leu294Ile
ENST00000409170.3:c.300+3032A>T (RPL36A-HNRNPH2)	ENSP00000386655.4:n.300+3032A>T
ENST00000409338.5:c.177+6667A>T (RPL36A-HNRNPH2)	ENSP00000386974.2:n.177+6667A>T
ENST00000466414.1:n.206T>A (GLA)
ENST00000493905.6:c.*268T>A (GLA)	ENSP00000476935.1:n.*268T>A
NM_000169.2:c.880T>A , LRG_672t1:c.880T>A (GLA)	NP_000160.1:p.Leu294Ile
NM_001199973.1:c.408+3032A>T (RPL36A-HNRNPH2)	NP_001186902.1:n.408+3032A>T
NM_001199974.1:c.285+6667A>T (RPL36A-HNRNPH2)	NP_001186903.1:n.285+6667A>T
XR_938397.1:n.965T>A (GLA)
XR_938397.2:n.986T>A (GLA)
NM_001199973.2:c.300+3032A>T (RPL36A-HNRNPH2)	NP_001186902.2:n.300+3032A>T
NM_001199974.2:c.177+6667A>T (RPL36A-HNRNPH2)	NP_001186903.2:n.177+6667A>T
NM_000169.3:c.880T>A (GLA) MANE Select	NP_000160.1:p.Leu294Ile
NR_164783.1:n.959T>A (GLA)