Canonical Allele Identifier: CA413928428

Gene: GLA RPL36A-HNRNPH2

Linked Data

• gnomAD v4: X-101401635-C-A
• MyVariant Identifiers: chrX:g.100656623C>A (hg19) ; chrX:g.101401635C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.101401635C>A , CM000685.2:g.101401635C>A	GRCh38
NC_000023.10:g.100656623C>A , CM000685.1:g.100656623C>A	GRCh37
NC_000023.9:g.100543279C>A	NCBI36
NG_007119.1:g.11329G>T , LRG_672:g.11329G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000486121.7:c.544G>T (GLA)	ENSP00000501124.2:p.Asp182Tyr
ENST00000674127.2:c.544G>T (GLA)	ENSP00000501044.2:p.Asp182Tyr
ENST00000710365.1:c.619G>T (GLA)	ENSP00000518234.1:p.Asp207Tyr
ENST00000218516.4:c.544G>T (GLA) MANE Select	ENSP00000218516.4:p.Asp182Tyr
ENST00000466414.2:n.463G>T (GLA)
ENST00000468823.2:n.605G>T (GLA)
ENST00000479445.2:n.542G>T (GLA)
ENST00000480513.6:c.544G>T (GLA)	ENSP00000497055.1:p.Asp182Tyr
ENST00000486121.6:c.474G>T (GLA)
ENST00000649178.1:c.667G>T (GLA)	ENSP00000498186.1:p.Asp223Tyr
ENST00000674127.1:c.472G>T (GLA)	ENSP00000501044.1:p.Asp158Tyr
ENST00000674142.1:n.631G>T (GLA)
ENST00000674634.2:c.544G>T (GLA)	ENSP00000502629.2:p.Asp182Tyr
ENST00000675592.1:c.544G>T (GLA)	ENSP00000502239.1:p.Asp182Tyr
ENST00000675799.1:c.544G>T (GLA)	ENSP00000502661.1:p.Asp182Tyr
ENST00000675968.1:n.605G>T (GLA)
ENST00000676156.1:c.511+33G>T (GLA)	ENSP00000501730.1:n.511+33G>T
ENST00000676372.1:c.544G>T (GLA)	ENSP00000502805.1:p.Asp182Tyr
ENST00000218516.3:c.544G>T (GLA)	ENSP00000218516.3:p.Asp182Tyr
ENST00000409170.3:c.300+6178C>A (RPL36A-HNRNPH2)	ENSP00000386655.4:n.300+6178C>A
ENST00000409338.5:c.177+9813C>A (RPL36A-HNRNPH2)	ENSP00000386974.2:n.177+9813C>A
ENST00000479445.1:n.528G>T (GLA)
ENST00000480513.5:n.474G>T (GLA)
ENST00000486121.5:n.474G>T (GLA)
ENST00000493905.6:c.544G>T (GLA)	ENSP00000476935.1:p.Asp182Tyr
NM_000169.2:c.544G>T , LRG_672t1:c.544G>T (GLA)	NP_000160.1:p.Asp182Tyr
NM_001199973.1:c.408+6178C>A (RPL36A-HNRNPH2)	NP_001186902.1:n.408+6178C>A
NM_001199974.1:c.285+9813C>A (RPL36A-HNRNPH2)	NP_001186903.1:n.285+9813C>A
XR_938397.1:n.572G>T (GLA)
XR_938397.2:n.593G>T (GLA)
NM_001199973.2:c.300+6178C>A (RPL36A-HNRNPH2)	NP_001186902.2:n.300+6178C>A
NM_001199974.2:c.177+9813C>A (RPL36A-HNRNPH2)	NP_001186903.2:n.177+9813C>A
NM_000169.3:c.544G>T (GLA) MANE Select	NP_000160.1:p.Asp182Tyr
NR_164783.1:n.566G>T (GLA)