Canonical Allele Identifier: CA517736570

Gene: GLA RPL36A-HNRNPH2

Linked Data

• MyVariant Identifiers: chrX:g.100653061T>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.101398073T>A , CM000685.2:g.101398073T>A	GRCh38
NC_000023.10:g.100653061T>A , CM000685.1:g.100653061T>A	GRCh37
NC_000023.9:g.100539717T>A	NCBI36
NG_007119.1:g.14891A>T , LRG_672:g.14891A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000486121.7:c.*472A>T (GLA)	ENSP00000501124.2:n.*472A>T
ENST00000674127.2:c.*529A>T (GLA)	ENSP00000501044.2:n.*529A>T
ENST00000710365.1:c.1101A>T (GLA)	ENSP00000518234.1:p.Arg367=
ENST00000218516.4:c.1026A>T (GLA) MANE Select	ENSP00000218516.4:p.Arg342=
ENST00000466414.2:n.1162A>T (GLA)
ENST00000468823.2:n.2448A>T (GLA)
ENST00000479445.2:n.1640A>T (GLA)
ENST00000480513.6:c.*334A>T (GLA)	ENSP00000497055.1:n.*334A>T
ENST00000486121.6:c.1071A>T (GLA)
ENST00000649178.1:c.1149A>T (GLA)	ENSP00000498186.1:p.Arg383=
ENST00000674127.1:c.1126A>T (GLA)	ENSP00000501044.1:n.1126A>T
ENST00000674142.1:n.1330A>T (GLA)
ENST00000675592.1:c.828A>T (GLA)	ENSP00000502239.1:p.Arg276=
ENST00000675799.1:c.*551A>T (GLA)	ENSP00000502661.1:n.*551A>T
ENST00000675968.1:n.3897A>T (GLA)
ENST00000676156.1:c.990A>T (GLA)	ENSP00000501730.1:p.Arg330=
ENST00000676372.1:c.1092A>T (GLA)	ENSP00000502805.1:n.1092A>T
ENST00000218516.3:c.1026A>T (GLA)	ENSP00000218516.3:p.Arg342=
ENST00000409170.3:c.300+2616T>A (RPL36A-HNRNPH2)	ENSP00000386655.4:n.300+2616T>A
ENST00000409338.5:c.177+6251T>A (RPL36A-HNRNPH2)	ENSP00000386974.2:n.177+6251T>A
ENST00000466414.1:n.352A>T (GLA)
ENST00000493905.6:c.*414A>T (GLA)	ENSP00000476935.1:n.*414A>T
NM_000169.2:c.1026A>T , LRG_672t1:c.1026A>T (GLA)	NP_000160.1:p.Arg342=
NM_001199973.1:c.408+2616T>A (RPL36A-HNRNPH2)	NP_001186902.1:n.408+2616T>A
NM_001199974.1:c.285+6251T>A (RPL36A-HNRNPH2)	NP_001186903.1:n.285+6251T>A
XR_938397.1:n.1111A>T (GLA)
XR_938397.2:n.1132A>T (GLA)
NM_001199973.2:c.300+2616T>A (RPL36A-HNRNPH2)	NP_001186902.2:n.300+2616T>A
NM_001199974.2:c.177+6251T>A (RPL36A-HNRNPH2)	NP_001186903.2:n.177+6251T>A
NM_000169.3:c.1026A>T (GLA) MANE Select	NP_000160.1:p.Arg342=
NR_164783.1:n.1105A>T (GLA)