Canonical Allele Identifier: CA413924336

Gene: GLA RPL36A-HNRNPH2

Linked Data

• MyVariant Identifiers: chrX:g.100653837G>T (hg19) ; chrX:g.101398849G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.101398849G>T , CM000685.2:g.101398849G>T	GRCh38
NC_000023.10:g.100653837G>T , CM000685.1:g.100653837G>T	GRCh37
NC_000023.9:g.100540493G>T	NCBI36
NG_007119.1:g.14115C>A , LRG_672:g.14115C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000486121.7:c.*183C>A (GLA)	ENSP00000501124.2:n.*183C>A
ENST00000674127.2:c.*240C>A (GLA)	ENSP00000501044.2:n.*240C>A
ENST00000710365.1:c.812C>A (GLA)	ENSP00000518234.1:p.Thr271Lys
ENST00000218516.4:c.737C>A (GLA) MANE Select	ENSP00000218516.4:p.Thr246Lys
ENST00000466414.2:n.656C>A (GLA)
ENST00000468823.2:n.1672C>A (GLA)
ENST00000479445.2:n.1134C>A (GLA)
ENST00000480513.6:c.*45C>A (GLA)	ENSP00000497055.1:n.*45C>A
ENST00000486121.6:c.782C>A (GLA)
ENST00000649178.1:c.860C>A (GLA)	ENSP00000498186.1:p.Thr287Lys
ENST00000674127.1:c.837C>A (GLA)	ENSP00000501044.1:n.837C>A
ENST00000674142.1:n.824C>A (GLA)
ENST00000674634.2:c.737C>A (GLA)	ENSP00000502629.2:p.Thr246Lys
ENST00000675592.1:c.737C>A (GLA)	ENSP00000502239.1:p.Thr246Lys
ENST00000675799.1:c.*45C>A (GLA)	ENSP00000502661.1:n.*45C>A
ENST00000675968.1:n.3391C>A (GLA)
ENST00000676156.1:c.701C>A (GLA)	ENSP00000501730.1:p.Thr234Lys
ENST00000676372.1:c.737C>A (GLA)	ENSP00000502805.1:p.Thr246Lys
ENST00000218516.3:c.737C>A (GLA)	ENSP00000218516.3:p.Thr246Lys
ENST00000409170.3:c.300+3392G>T (RPL36A-HNRNPH2)	ENSP00000386655.4:n.300+3392G>T
ENST00000409338.5:c.177+7027G>T (RPL36A-HNRNPH2)	ENSP00000386974.2:n.177+7027G>T
ENST00000468823.1:n.286C>A (GLA)
ENST00000480513.5:n.575C>A (GLA)
ENST00000493905.6:c.*125C>A (GLA)	ENSP00000476935.1:n.*125C>A
NM_000169.2:c.737C>A , LRG_672t1:c.737C>A (GLA)	NP_000160.1:p.Thr246Lys
NM_001199973.1:c.408+3392G>T (RPL36A-HNRNPH2)	NP_001186902.1:n.408+3392G>T
NM_001199974.1:c.285+7027G>T (RPL36A-HNRNPH2)	NP_001186903.1:n.285+7027G>T
XR_938397.1:n.822C>A (GLA)
XR_938397.2:n.843C>A (GLA)
NM_001199973.2:c.300+3392G>T (RPL36A-HNRNPH2)	NP_001186902.2:n.300+3392G>T
NM_001199974.2:c.177+7027G>T (RPL36A-HNRNPH2)	NP_001186903.2:n.177+7027G>T
NM_000169.3:c.737C>A (GLA) MANE Select	NP_000160.1:p.Thr246Lys
NR_164783.1:n.816C>A (GLA)