Canonical Allele Identifier: CA353207

Gene: GLA RPL36A-HNRNPH2

Linked Data

• ClinVar Variation Id: 217387
• ClinVar RCV Id: RCV000209663 ; RCV000209274 ; RCV002345718
• dbSNP Id: rs869312145
• MyVariant Identifiers: chrX:g.100656627C>A (hg19) ; chrX:g.101401639C>A (hg38)
• PubMed: PMID:26415523

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.101401639C>A , CM000685.2:g.101401639C>A	GRCh38
NC_000023.10:g.100656627C>A , CM000685.1:g.100656627C>A	GRCh37
NC_000023.9:g.100543283C>A	NCBI36
NG_007119.1:g.11325G>T , LRG_672:g.11325G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000486121.7:c.540G>T (GLA)	ENSP00000501124.2:p.Leu180Phe
ENST00000674127.2:c.540G>T (GLA)	ENSP00000501044.2:p.Leu180Phe
ENST00000710365.1:c.615G>T (GLA)	ENSP00000518234.1:p.Leu205Phe
ENST00000218516.4:c.540G>T (GLA) MANE Select	ENSP00000218516.4:p.Leu180Phe
ENST00000466414.2:n.459G>T (GLA)
ENST00000468823.2:n.601G>T (GLA)
ENST00000479445.2:n.538G>T (GLA)
ENST00000480513.6:c.540G>T (GLA)	ENSP00000497055.1:p.Leu180Phe
ENST00000486121.6:c.470G>T (GLA)
ENST00000649178.1:c.663G>T (GLA)	ENSP00000498186.1:p.Leu221Phe
ENST00000674127.1:c.468G>T (GLA)	ENSP00000501044.1:p.Leu156Phe
ENST00000674142.1:n.627G>T (GLA)
ENST00000674634.2:c.540G>T (GLA)	ENSP00000502629.2:p.Leu180Phe
ENST00000675592.1:c.540G>T (GLA)	ENSP00000502239.1:p.Leu180Phe
ENST00000675799.1:c.540G>T (GLA)	ENSP00000502661.1:p.Leu180Phe
ENST00000675968.1:n.601G>T (GLA)
ENST00000676156.1:c.511+29G>T (GLA)	ENSP00000501730.1:n.511+29G>T
ENST00000676372.1:c.540G>T (GLA)	ENSP00000502805.1:p.Leu180Phe
ENST00000218516.3:c.540G>T (GLA)	ENSP00000218516.3:p.Leu180Phe
ENST00000409170.3:c.300+6182C>A (RPL36A-HNRNPH2)	ENSP00000386655.4:n.300+6182C>A
ENST00000409338.5:c.177+9817C>A (RPL36A-HNRNPH2)	ENSP00000386974.2:n.177+9817C>A
ENST00000479445.1:n.524G>T (GLA)
ENST00000480513.5:n.470G>T (GLA)
ENST00000486121.5:n.470G>T (GLA)
ENST00000493905.6:c.540G>T (GLA)	ENSP00000476935.1:p.Leu180Phe
NM_000169.2:c.540G>T , LRG_672t1:c.540G>T (GLA)	NP_000160.1:p.Leu180Phe
NM_001199973.1:c.408+6182C>A (RPL36A-HNRNPH2)	NP_001186902.1:n.408+6182C>A
NM_001199974.1:c.285+9817C>A (RPL36A-HNRNPH2)	NP_001186903.1:n.285+9817C>A
XR_938397.1:n.568G>T (GLA)
XR_938397.2:n.589G>T (GLA)
NM_001199973.2:c.300+6182C>A (RPL36A-HNRNPH2)	NP_001186902.2:n.300+6182C>A
NM_001199974.2:c.177+9817C>A (RPL36A-HNRNPH2)	NP_001186903.2:n.177+9817C>A
NM_000169.3:c.540G>T (GLA) MANE Select	NP_000160.1:p.Leu180Phe
NR_164783.1:n.562G>T (GLA)