Canonical Allele Identifier: CA517736512

Gene: GLA RPL36A-HNRNPH2

Linked Data

• MyVariant Identifiers: chrX:g.100653004T>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.101398016T>A , CM000685.2:g.101398016T>A	GRCh38
NC_000023.10:g.100653004T>A , CM000685.1:g.100653004T>A	GRCh37
NC_000023.9:g.100539660T>A	NCBI36
NG_007119.1:g.14948A>T , LRG_672:g.14948A>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000486121.7:c.*529A>T (GLA)	ENSP00000501124.2:n.*529A>T
ENST00000674127.2:c.*586A>T (GLA)	ENSP00000501044.2:n.*586A>T
ENST00000710365.1:c.1158A>T (GLA)	ENSP00000518234.1:p.Gly386=
ENST00000218516.4:c.1083A>T (GLA) MANE Select	ENSP00000218516.4:p.Gly361=
ENST00000466414.2:n.1219A>T (GLA)
ENST00000468823.2:n.2505A>T (GLA)
ENST00000479445.2:n.1697A>T (GLA)
ENST00000480513.6:c.*391A>T (GLA)	ENSP00000497055.1:n.*391A>T
ENST00000486121.6:c.1128A>T (GLA)
ENST00000649178.1:c.1206A>T (GLA)	ENSP00000498186.1:p.Gly402=
ENST00000674127.1:c.1183A>T (GLA)	ENSP00000501044.1:n.1183A>T
ENST00000674142.1:n.1387A>T (GLA)
ENST00000675592.1:c.885A>T (GLA)	ENSP00000502239.1:p.Gly295=
ENST00000675799.1:c.*608A>T (GLA)	ENSP00000502661.1:n.*608A>T
ENST00000675968.1:n.3954A>T (GLA)
ENST00000676156.1:c.1047A>T (GLA)	ENSP00000501730.1:p.Gly349=
ENST00000676372.1:c.1149A>T (GLA)	ENSP00000502805.1:n.1149A>T
ENST00000218516.3:c.1083A>T (GLA)	ENSP00000218516.3:p.Gly361=
ENST00000409170.3:c.300+2559T>A (RPL36A-HNRNPH2)	ENSP00000386655.4:n.300+2559T>A
ENST00000409338.5:c.177+6194T>A (RPL36A-HNRNPH2)	ENSP00000386974.2:n.177+6194T>A
ENST00000466414.1:n.409A>T (GLA)
ENST00000493905.6:c.*471A>T (GLA)	ENSP00000476935.1:n.*471A>T
NM_000169.2:c.1083A>T , LRG_672t1:c.1083A>T (GLA)	NP_000160.1:p.Gly361=
NM_001199973.1:c.408+2559T>A (RPL36A-HNRNPH2)	NP_001186902.1:n.408+2559T>A
NM_001199974.1:c.285+6194T>A (RPL36A-HNRNPH2)	NP_001186903.1:n.285+6194T>A
XR_938397.1:n.1168A>T (GLA)
XR_938397.2:n.1189A>T (GLA)
NM_001199973.2:c.300+2559T>A (RPL36A-HNRNPH2)	NP_001186902.2:n.300+2559T>A
NM_001199974.2:c.177+6194T>A (RPL36A-HNRNPH2)	NP_001186903.2:n.177+6194T>A
NM_000169.3:c.1083A>T (GLA) MANE Select	NP_000160.1:p.Gly361=
NR_164783.1:n.1162A>T (GLA)