Canonical Allele Identifier: CA517737102

Gene: GLA RPL36A-HNRNPH2

Linked Data

• MyVariant Identifiers: chrX:g.100653833A>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.101398845A>T , CM000685.2:g.101398845A>T	GRCh38
NC_000023.10:g.100653833A>T , CM000685.1:g.100653833A>T	GRCh37
NC_000023.9:g.100540489A>T	NCBI36
NG_007119.1:g.14119T>A , LRG_672:g.14119T>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000486121.7:c.*187T>A (GLA)	ENSP00000501124.2:n.*187T>A
ENST00000674127.2:c.*244T>A (GLA)	ENSP00000501044.2:n.*244T>A
ENST00000710365.1:c.816T>A (GLA)	ENSP00000518234.1:p.Ser272=
ENST00000218516.4:c.741T>A (GLA) MANE Select	ENSP00000218516.4:p.Ser247=
ENST00000466414.2:n.660T>A (GLA)
ENST00000468823.2:n.1676T>A (GLA)
ENST00000479445.2:n.1138T>A (GLA)
ENST00000480513.6:c.*49T>A (GLA)	ENSP00000497055.1:n.*49T>A
ENST00000486121.6:c.786T>A (GLA)
ENST00000649178.1:c.864T>A (GLA)	ENSP00000498186.1:p.Ser288=
ENST00000674127.1:c.841T>A (GLA)	ENSP00000501044.1:n.841T>A
ENST00000674142.1:n.828T>A (GLA)
ENST00000674634.2:c.741T>A (GLA)	ENSP00000502629.2:p.Ser247=
ENST00000675592.1:c.741T>A (GLA)	ENSP00000502239.1:p.Ser247=
ENST00000675799.1:c.*49T>A (GLA)	ENSP00000502661.1:n.*49T>A
ENST00000675968.1:n.3395T>A (GLA)
ENST00000676156.1:c.705T>A (GLA)	ENSP00000501730.1:p.Ser235=
ENST00000676372.1:c.741T>A (GLA)	ENSP00000502805.1:p.Ser247=
ENST00000218516.3:c.741T>A (GLA)	ENSP00000218516.3:p.Ser247=
ENST00000409170.3:c.300+3388A>T (RPL36A-HNRNPH2)	ENSP00000386655.4:n.300+3388A>T
ENST00000409338.5:c.177+7023A>T (RPL36A-HNRNPH2)	ENSP00000386974.2:n.177+7023A>T
ENST00000468823.1:n.290T>A (GLA)
ENST00000480513.5:n.579T>A (GLA)
ENST00000493905.6:c.*129T>A (GLA)	ENSP00000476935.1:n.*129T>A
NM_000169.2:c.741T>A , LRG_672t1:c.741T>A (GLA)	NP_000160.1:p.Ser247=
NM_001199973.1:c.408+3388A>T (RPL36A-HNRNPH2)	NP_001186902.1:n.408+3388A>T
NM_001199974.1:c.285+7023A>T (RPL36A-HNRNPH2)	NP_001186903.1:n.285+7023A>T
XR_938397.1:n.826T>A (GLA)
XR_938397.2:n.847T>A (GLA)
NM_001199973.2:c.300+3388A>T (RPL36A-HNRNPH2)	NP_001186902.2:n.300+3388A>T
NM_001199974.2:c.177+7023A>T (RPL36A-HNRNPH2)	NP_001186903.2:n.177+7023A>T
NM_000169.3:c.741T>A (GLA) MANE Select	NP_000160.1:p.Ser247=
NR_164783.1:n.820T>A (GLA)