Canonical Allele Identifier: CA413924684

Gene: GLA RPL36A-HNRNPH2

Linked Data

• ClinVar Variation Id: 501332
• ClinVar RCV Id: RCV000597741 ; RCV002531083
• dbSNP Id: rs869312386
• COSMIC: COSM6184279
• MyVariant Identifiers: chrX:g.100653866C>A (hg19) ; chrX:g.101398878C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.101398878C>A , CM000685.2:g.101398878C>A	GRCh38
NC_000023.10:g.100653866C>A , CM000685.1:g.100653866C>A	GRCh37
NC_000023.9:g.100540522C>A	NCBI36
NG_007119.1:g.14086G>T , LRG_672:g.14086G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000486121.7:c.*154G>T (GLA)	ENSP00000501124.2:n.*154G>T
ENST00000674127.2:c.*211G>T (GLA)	ENSP00000501044.2:n.*211G>T
ENST00000710365.1:c.783G>T (GLA)	ENSP00000518234.1:p.Trp261Cys
ENST00000218516.4:c.708G>T (GLA) MANE Select	ENSP00000218516.4:p.Trp236Cys
ENST00000466414.2:n.627G>T (GLA)
ENST00000468823.2:n.1643G>T (GLA)
ENST00000479445.2:n.1105G>T (GLA)
ENST00000480513.6:c.*16G>T (GLA)	ENSP00000497055.1:n.*16G>T
ENST00000486121.6:c.753G>T (GLA)
ENST00000649178.1:c.831G>T (GLA)	ENSP00000498186.1:p.Trp277Cys
ENST00000674127.1:c.808G>T (GLA)	ENSP00000501044.1:n.808G>T
ENST00000674142.1:n.795G>T (GLA)
ENST00000674634.2:c.708G>T (GLA)	ENSP00000502629.2:p.Trp236Cys
ENST00000675592.1:c.708G>T (GLA)	ENSP00000502239.1:p.Trp236Cys
ENST00000675799.1:c.*16G>T (GLA)	ENSP00000502661.1:n.*16G>T
ENST00000675968.1:n.3362G>T (GLA)
ENST00000676156.1:c.672G>T (GLA)	ENSP00000501730.1:p.Trp224Cys
ENST00000676372.1:c.708G>T (GLA)	ENSP00000502805.1:p.Trp236Cys
ENST00000218516.3:c.708G>T (GLA)	ENSP00000218516.3:p.Trp236Cys
ENST00000409170.3:c.300+3421C>A (RPL36A-HNRNPH2)	ENSP00000386655.4:n.300+3421C>A
ENST00000409338.5:c.177+7056C>A (RPL36A-HNRNPH2)	ENSP00000386974.2:n.177+7056C>A
ENST00000468823.1:n.257G>T (GLA)
ENST00000480513.5:n.546G>T (GLA)
ENST00000493905.6:c.*96G>T (GLA)	ENSP00000476935.1:n.*96G>T
NM_000169.2:c.708G>T , LRG_672t1:c.708G>T (GLA)	NP_000160.1:p.Trp236Cys
NM_001199973.1:c.408+3421C>A (RPL36A-HNRNPH2)	NP_001186902.1:n.408+3421C>A
NM_001199974.1:c.285+7056C>A (RPL36A-HNRNPH2)	NP_001186903.1:n.285+7056C>A
XR_938397.1:n.793G>T (GLA)
XR_938397.2:n.814G>T (GLA)
NM_001199973.2:c.300+3421C>A (RPL36A-HNRNPH2)	NP_001186902.2:n.300+3421C>A
NM_001199974.2:c.177+7056C>A (RPL36A-HNRNPH2)	NP_001186903.2:n.177+7056C>A
NM_000169.3:c.708G>T (GLA) MANE Select	NP_000160.1:p.Trp236Cys
NR_164783.1:n.787G>T (GLA)