Canonical Allele Identifier: CA413923337

Gene: GLA RPL36A-HNRNPH2

Linked Data

• MyVariant Identifiers: chrX:g.100653538A>T (hg19) ; chrX:g.101398550A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.101398550A>T , CM000685.2:g.101398550A>T	GRCh38
NC_000023.10:g.100653538A>T , CM000685.1:g.100653538A>T	GRCh37
NC_000023.9:g.100540194A>T	NCBI36
NG_007119.1:g.14414T>A , LRG_672:g.14414T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000486121.7:c.*265T>A (GLA)	ENSP00000501124.2:n.*265T>A
ENST00000674127.2:c.*322T>A (GLA)	ENSP00000501044.2:n.*322T>A
ENST00000710365.1:c.894T>A (GLA)	ENSP00000518234.1:p.Phe298Leu
ENST00000218516.4:c.819T>A (GLA) MANE Select	ENSP00000218516.4:p.Phe273Leu
ENST00000466414.2:n.955T>A (GLA)
ENST00000468823.2:n.1971T>A (GLA)
ENST00000479445.2:n.1433T>A (GLA)
ENST00000480513.6:c.*127T>A (GLA)	ENSP00000497055.1:n.*127T>A
ENST00000486121.6:c.864T>A (GLA)
ENST00000649178.1:c.942T>A (GLA)	ENSP00000498186.1:p.Phe314Leu
ENST00000674127.1:c.919T>A (GLA)	ENSP00000501044.1:n.919T>A
ENST00000674142.1:n.1123T>A (GLA)
ENST00000674634.2:c.819T>A (GLA)	ENSP00000502629.2:p.Phe273Leu
ENST00000675592.1:c.801+235T>A (GLA)	ENSP00000502239.1:n.801+235T>A
ENST00000675799.1:c.*344T>A (GLA)	ENSP00000502661.1:n.*344T>A
ENST00000675968.1:n.3690T>A (GLA)
ENST00000676156.1:c.783T>A (GLA)	ENSP00000501730.1:p.Phe261Leu
ENST00000676372.1:c.885T>A (GLA)	ENSP00000502805.1:n.885T>A
ENST00000218516.3:c.819T>A (GLA)	ENSP00000218516.3:p.Phe273Leu
ENST00000409170.3:c.300+3093A>T (RPL36A-HNRNPH2)	ENSP00000386655.4:n.300+3093A>T
ENST00000409338.5:c.177+6728A>T (RPL36A-HNRNPH2)	ENSP00000386974.2:n.177+6728A>T
ENST00000466414.1:n.145T>A (GLA)
ENST00000468823.1:n.585T>A (GLA)
ENST00000493905.6:c.*207T>A (GLA)	ENSP00000476935.1:n.*207T>A
NM_000169.2:c.819T>A , LRG_672t1:c.819T>A (GLA)	NP_000160.1:p.Phe273Leu
NM_001199973.1:c.408+3093A>T (RPL36A-HNRNPH2)	NP_001186902.1:n.408+3093A>T
NM_001199974.1:c.285+6728A>T (RPL36A-HNRNPH2)	NP_001186903.1:n.285+6728A>T
XR_938397.1:n.904T>A (GLA)
XR_938397.2:n.925T>A (GLA)
NM_001199973.2:c.300+3093A>T (RPL36A-HNRNPH2)	NP_001186902.2:n.300+3093A>T
NM_001199974.2:c.177+6728A>T (RPL36A-HNRNPH2)	NP_001186903.2:n.177+6728A>T
NM_000169.3:c.819T>A (GLA) MANE Select	NP_000160.1:p.Phe273Leu
NR_164783.1:n.898T>A (GLA)