Canonical Allele Identifier: CA10603765

Gene: GLA RPL36A-HNRNPH2

Linked Data

• ClinVar Variation Id: 280973
• ClinVar RCV Id: RCV000286285 ; RCV000723404
• dbSNP Id: rs886044766
• MyVariant Identifiers: chrX:g.100653527C>T (hg19) ; chrX:g.101398539C>T (hg38)
• PubMed: PMID:10666480

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.101398539C>T , CM000685.2:g.101398539C>T	GRCh38
NC_000023.10:g.100653527C>T , CM000685.1:g.100653527C>T	GRCh37
NC_000023.9:g.100540183C>T	NCBI36
NG_007119.1:g.14425G>A , LRG_672:g.14425G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000486121.7:c.*276G>A (GLA)	ENSP00000501124.2:n.*276G>A
ENST00000674127.2:c.*333G>A (GLA)	ENSP00000501044.2:n.*333G>A
ENST00000710365.1:c.905G>A (GLA)	ENSP00000518234.1:p.Trp302Ter
ENST00000218516.4:c.830G>A (GLA) MANE Select	ENSP00000218516.4:p.Trp277Ter
ENST00000466414.2:n.966G>A (GLA)
ENST00000468823.2:n.1982G>A (GLA)
ENST00000479445.2:n.1444G>A (GLA)
ENST00000480513.6:c.*138G>A (GLA)	ENSP00000497055.1:n.*138G>A
ENST00000486121.6:c.875G>A (GLA)
ENST00000649178.1:c.953G>A (GLA)	ENSP00000498186.1:p.Trp318Ter
ENST00000674127.1:c.930G>A (GLA)	ENSP00000501044.1:n.930G>A
ENST00000674142.1:n.1134G>A (GLA)
ENST00000674634.2:c.830G>A (GLA)	ENSP00000502629.2:p.Trp277Ter
ENST00000675592.1:c.801+246G>A (GLA)	ENSP00000502239.1:n.801+246G>A
ENST00000675799.1:c.*355G>A (GLA)	ENSP00000502661.1:n.*355G>A
ENST00000675968.1:n.3701G>A (GLA)
ENST00000676156.1:c.794G>A (GLA)	ENSP00000501730.1:p.Trp265Ter
ENST00000676372.1:c.896G>A (GLA)	ENSP00000502805.1:n.896G>A
ENST00000218516.3:c.830G>A (GLA)	ENSP00000218516.3:p.Trp277Ter
ENST00000409170.3:c.300+3082C>T (RPL36A-HNRNPH2)	ENSP00000386655.4:n.300+3082C>T
ENST00000409338.5:c.177+6717C>T (RPL36A-HNRNPH2)	ENSP00000386974.2:n.177+6717C>T
ENST00000466414.1:n.156G>A (GLA)
ENST00000468823.1:n.596G>A (GLA)
ENST00000493905.6:c.*218G>A (GLA)	ENSP00000476935.1:n.*218G>A
NM_000169.2:c.830G>A , LRG_672t1:c.830G>A (GLA)	NP_000160.1:p.Trp277Ter
NM_001199973.1:c.408+3082C>T (RPL36A-HNRNPH2)	NP_001186902.1:n.408+3082C>T
NM_001199974.1:c.285+6717C>T (RPL36A-HNRNPH2)	NP_001186903.1:n.285+6717C>T
XR_938397.1:n.915G>A (GLA)
XR_938397.2:n.936G>A (GLA)
NM_001199973.2:c.300+3082C>T (RPL36A-HNRNPH2)	NP_001186902.2:n.300+3082C>T
NM_001199974.2:c.177+6717C>T (RPL36A-HNRNPH2)	NP_001186903.2:n.177+6717C>T
NM_000169.3:c.830G>A (GLA) MANE Select	NP_000160.1:p.Trp277Ter
NR_164783.1:n.909G>A (GLA)