Canonical Allele Identifier: CA413922011

Gene: GLA RPL36A-HNRNPH2

Linked Data

• MyVariant Identifiers: chrX:g.100653434T>A (hg19) ; chrX:g.101398446T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.101398446T>A , CM000685.2:g.101398446T>A	GRCh38
NC_000023.10:g.100653434T>A , CM000685.1:g.100653434T>A	GRCh37
NC_000023.9:g.100540090T>A	NCBI36
NG_007119.1:g.14518A>T , LRG_672:g.14518A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000486121.7:c.*369A>T (GLA)	ENSP00000501124.2:n.*369A>T
ENST00000674127.2:c.*426A>T (GLA)	ENSP00000501044.2:n.*426A>T
ENST00000710365.1:c.998A>T (GLA)	ENSP00000518234.1:p.Lys333Ile
ENST00000218516.4:c.923A>T (GLA) MANE Select	ENSP00000218516.4:p.Lys308Ile
ENST00000466414.2:n.1059A>T (GLA)
ENST00000468823.2:n.2075A>T (GLA)
ENST00000479445.2:n.1537A>T (GLA)
ENST00000480513.6:c.*231A>T (GLA)	ENSP00000497055.1:n.*231A>T
ENST00000486121.6:c.968A>T (GLA)
ENST00000649178.1:c.1046A>T (GLA)	ENSP00000498186.1:p.Lys349Ile
ENST00000674127.1:c.1023A>T (GLA)	ENSP00000501044.1:n.1023A>T
ENST00000674142.1:n.1227A>T (GLA)
ENST00000674634.2:c.923A>T (GLA)	ENSP00000502629.2:p.Lys308Ile
ENST00000675592.1:c.801+339A>T (GLA)	ENSP00000502239.1:n.801+339A>T
ENST00000675799.1:c.*448A>T (GLA)	ENSP00000502661.1:n.*448A>T
ENST00000675968.1:n.3794A>T (GLA)
ENST00000676156.1:c.887A>T (GLA)	ENSP00000501730.1:p.Lys296Ile
ENST00000676372.1:c.989A>T (GLA)	ENSP00000502805.1:n.989A>T
ENST00000218516.3:c.923A>T (GLA)	ENSP00000218516.3:p.Lys308Ile
ENST00000409170.3:c.300+2989T>A (RPL36A-HNRNPH2)	ENSP00000386655.4:n.300+2989T>A
ENST00000409338.5:c.177+6624T>A (RPL36A-HNRNPH2)	ENSP00000386974.2:n.177+6624T>A
ENST00000466414.1:n.249A>T (GLA)
ENST00000493905.6:c.*311A>T (GLA)	ENSP00000476935.1:n.*311A>T
NM_000169.2:c.923A>T , LRG_672t1:c.923A>T (GLA)	NP_000160.1:p.Lys308Ile
NM_001199973.1:c.408+2989T>A (RPL36A-HNRNPH2)	NP_001186902.1:n.408+2989T>A
NM_001199974.1:c.285+6624T>A (RPL36A-HNRNPH2)	NP_001186903.1:n.285+6624T>A
XR_938397.1:n.1008A>T (GLA)
XR_938397.2:n.1029A>T (GLA)
NM_001199973.2:c.300+2989T>A (RPL36A-HNRNPH2)	NP_001186902.2:n.300+2989T>A
NM_001199974.2:c.177+6624T>A (RPL36A-HNRNPH2)	NP_001186903.2:n.177+6624T>A
NM_000169.3:c.923A>T (GLA) MANE Select	NP_000160.1:p.Lys308Ile
NR_164783.1:n.1002A>T (GLA)