Canonical Allele Identifier: CA413921776

Gene: GLA RPL36A-HNRNPH2

Linked Data

• MyVariant Identifiers: chrX:g.100653418A>T (hg19) ; chrX:g.101398430A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.101398430A>T , CM000685.2:g.101398430A>T	GRCh38
NC_000023.10:g.100653418A>T , CM000685.1:g.100653418A>T	GRCh37
NC_000023.9:g.100540074A>T	NCBI36
NG_007119.1:g.14534T>A , LRG_672:g.14534T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000486121.7:c.*385T>A (GLA)	ENSP00000501124.2:n.*385T>A
ENST00000674127.2:c.*442T>A (GLA)	ENSP00000501044.2:n.*442T>A
ENST00000710365.1:c.1014T>A (GLA)	ENSP00000518234.1:p.Asp338Glu
ENST00000218516.4:c.939T>A (GLA) MANE Select	ENSP00000218516.4:p.Asp313Glu
ENST00000466414.2:n.1075T>A (GLA)
ENST00000468823.2:n.2091T>A (GLA)
ENST00000479445.2:n.1553T>A (GLA)
ENST00000480513.6:c.*247T>A (GLA)	ENSP00000497055.1:n.*247T>A
ENST00000486121.6:c.984T>A (GLA)
ENST00000649178.1:c.1062T>A (GLA)	ENSP00000498186.1:p.Asp354Glu
ENST00000674127.1:c.1039T>A (GLA)	ENSP00000501044.1:n.1039T>A
ENST00000674142.1:n.1243T>A (GLA)
ENST00000674634.2:c.939T>A (GLA)	ENSP00000502629.2:p.Asp313Glu
ENST00000675592.1:c.802-331T>A (GLA)	ENSP00000502239.1:n.802-331T>A
ENST00000675799.1:c.*464T>A (GLA)	ENSP00000502661.1:n.*464T>A
ENST00000675968.1:n.3810T>A (GLA)
ENST00000676156.1:c.903T>A (GLA)	ENSP00000501730.1:p.Asp301Glu
ENST00000676372.1:c.1005T>A (GLA)	ENSP00000502805.1:n.1005T>A
ENST00000218516.3:c.939T>A (GLA)	ENSP00000218516.3:p.Asp313Glu
ENST00000409170.3:c.300+2973A>T (RPL36A-HNRNPH2)	ENSP00000386655.4:n.300+2973A>T
ENST00000409338.5:c.177+6608A>T (RPL36A-HNRNPH2)	ENSP00000386974.2:n.177+6608A>T
ENST00000466414.1:n.265T>A (GLA)
ENST00000493905.6:c.*327T>A (GLA)	ENSP00000476935.1:n.*327T>A
NM_000169.2:c.939T>A , LRG_672t1:c.939T>A (GLA)	NP_000160.1:p.Asp313Glu
NM_001199973.1:c.408+2973A>T (RPL36A-HNRNPH2)	NP_001186902.1:n.408+2973A>T
NM_001199974.1:c.285+6608A>T (RPL36A-HNRNPH2)	NP_001186903.1:n.285+6608A>T
XR_938397.1:n.1024T>A (GLA)
XR_938397.2:n.1045T>A (GLA)
NM_001199973.2:c.300+2973A>T (RPL36A-HNRNPH2)	NP_001186902.2:n.300+2973A>T
NM_001199974.2:c.177+6608A>T (RPL36A-HNRNPH2)	NP_001186903.2:n.177+6608A>T
NM_000169.3:c.939T>A (GLA) MANE Select	NP_000160.1:p.Asp313Glu
NR_164783.1:n.1018T>A (GLA)