Canonical Allele Identifier: CA413929139

Gene: GLA RPL36A-HNRNPH2

Linked Data

• ClinVar Variation Id: 1008470
• ClinVar RCV Id: RCV001305815 ; RCV003992491
• dbSNP Id: rs869312144
• gnomAD v4: X-101401689-C-T
• MyVariant Identifiers: chrX:g.100656677C>T (hg19) ; chrX:g.101401689C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.101401689C>T , CM000685.2:g.101401689C>T	GRCh38
NC_000023.10:g.100656677C>T , CM000685.1:g.100656677C>T	GRCh37
NC_000023.9:g.100543333C>T	NCBI36
NG_007119.1:g.11275G>A , LRG_672:g.11275G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000486121.7:c.490G>A (GLA)	ENSP00000501124.2:p.Val164Ile
ENST00000674127.2:c.490G>A (GLA)	ENSP00000501044.2:p.Val164Ile
ENST00000710365.1:c.565G>A (GLA)	ENSP00000518234.1:p.Val189Ile
ENST00000218516.4:c.490G>A (GLA) MANE Select	ENSP00000218516.4:p.Val164Ile
ENST00000466414.2:n.409G>A (GLA)
ENST00000468823.2:n.551G>A (GLA)
ENST00000479445.2:n.488G>A (GLA)
ENST00000480513.6:c.490G>A (GLA)	ENSP00000497055.1:p.Val164Ile
ENST00000486121.6:c.420G>A (GLA)
ENST00000649178.1:c.613G>A (GLA)	ENSP00000498186.1:p.Val205Ile
ENST00000674127.1:c.418G>A (GLA)	ENSP00000501044.1:p.Val140Ile
ENST00000674142.1:n.577G>A (GLA)
ENST00000674634.2:c.490G>A (GLA)	ENSP00000502629.2:p.Val164Ile
ENST00000675592.1:c.490G>A (GLA)	ENSP00000502239.1:p.Val164Ile
ENST00000675799.1:c.490G>A (GLA)	ENSP00000502661.1:p.Val164Ile
ENST00000675968.1:n.551G>A (GLA)
ENST00000676156.1:c.490G>A (GLA)	ENSP00000501730.1:p.Val164Ile
ENST00000676372.1:c.490G>A (GLA)	ENSP00000502805.1:p.Val164Ile
ENST00000218516.3:c.490G>A (GLA)	ENSP00000218516.3:p.Val164Ile
ENST00000409170.3:c.300+6232C>T (RPL36A-HNRNPH2)	ENSP00000386655.4:n.300+6232C>T
ENST00000409338.5:c.177+9867C>T (RPL36A-HNRNPH2)	ENSP00000386974.2:n.177+9867C>T
ENST00000479445.1:n.474G>A (GLA)
ENST00000480513.5:n.420G>A (GLA)
ENST00000486121.5:n.420G>A (GLA)
ENST00000493905.6:c.490G>A (GLA)	ENSP00000476935.1:p.Val164Ile
NM_000169.2:c.490G>A , LRG_672t1:c.490G>A (GLA)	NP_000160.1:p.Val164Ile
NM_001199973.1:c.408+6232C>T (RPL36A-HNRNPH2)	NP_001186902.1:n.408+6232C>T
NM_001199974.1:c.285+9867C>T (RPL36A-HNRNPH2)	NP_001186903.1:n.285+9867C>T
XR_938397.1:n.518G>A (GLA)
XR_938397.2:n.539G>A (GLA)
NM_001199973.2:c.300+6232C>T (RPL36A-HNRNPH2)	NP_001186902.2:n.300+6232C>T
NM_001199974.2:c.177+9867C>T (RPL36A-HNRNPH2)	NP_001186903.2:n.177+9867C>T
NM_000169.3:c.490G>A (GLA) MANE Select	NP_000160.1:p.Val164Ile
NR_164783.1:n.512G>A (GLA)