Canonical Allele Identifier: CA022159

Gene: GLA RPL36A-HNRNPH2

Linked Data

• ClinVar Variation Id: 92569
• ClinVar RCV Id: RCV000078300 ; RCV000723759
• dbSNP Id: rs398123223
• MyVariant Identifiers: chrX:g.100653458A>G (hg19) ; chrX:g.101398470A>G (hg38)
• PubMed: PMID:17532296 ; PMID:19387866 ; PMID:21092187 ; PMID:21598360 ; PMID:22004918 ; PMID:25663229

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.101398470A>G , CM000685.2:g.101398470A>G	GRCh38
NC_000023.10:g.100653458A>G , CM000685.1:g.100653458A>G	GRCh37
NC_000023.9:g.100540114A>G	NCBI36
NG_007119.1:g.14494T>C , LRG_672:g.14494T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000486121.7:c.*345T>C (GLA)	ENSP00000501124.2:n.*345T>C
ENST00000674127.2:c.*402T>C (GLA)	ENSP00000501044.2:n.*402T>C
ENST00000710365.1:c.974T>C (GLA)	ENSP00000518234.1:p.Leu325Pro
ENST00000218516.4:c.899T>C (GLA) MANE Select	ENSP00000218516.4:p.Leu300Pro
ENST00000466414.2:n.1035T>C (GLA)
ENST00000468823.2:n.2051T>C (GLA)
ENST00000479445.2:n.1513T>C (GLA)
ENST00000480513.6:c.*207T>C (GLA)	ENSP00000497055.1:n.*207T>C
ENST00000486121.6:c.944T>C (GLA)
ENST00000649178.1:c.1022T>C (GLA)	ENSP00000498186.1:p.Leu341Pro
ENST00000674127.1:c.999T>C (GLA)	ENSP00000501044.1:n.999T>C
ENST00000674142.1:n.1203T>C (GLA)
ENST00000674634.2:c.899T>C (GLA)	ENSP00000502629.2:p.Leu300Pro
ENST00000675592.1:c.801+315T>C (GLA)	ENSP00000502239.1:n.801+315T>C
ENST00000675799.1:c.*424T>C (GLA)	ENSP00000502661.1:n.*424T>C
ENST00000675968.1:n.3770T>C (GLA)
ENST00000676156.1:c.863T>C (GLA)	ENSP00000501730.1:p.Leu288Pro
ENST00000676372.1:c.965T>C (GLA)	ENSP00000502805.1:n.965T>C
ENST00000218516.3:c.899T>C (GLA)	ENSP00000218516.3:p.Leu300Pro
ENST00000409170.3:c.300+3013A>G (RPL36A-HNRNPH2)	ENSP00000386655.4:n.300+3013A>G
ENST00000409338.5:c.177+6648A>G (RPL36A-HNRNPH2)	ENSP00000386974.2:n.177+6648A>G
ENST00000466414.1:n.225T>C (GLA)
ENST00000493905.6:c.*287T>C (GLA)	ENSP00000476935.1:n.*287T>C
NM_000169.2:c.899T>C , LRG_672t1:c.899T>C (GLA)	NP_000160.1:p.Leu300Pro
NM_001199973.1:c.408+3013A>G (RPL36A-HNRNPH2)	NP_001186902.1:n.408+3013A>G
NM_001199974.1:c.285+6648A>G (RPL36A-HNRNPH2)	NP_001186903.1:n.285+6648A>G
XR_938397.1:n.984T>C (GLA)
XR_938397.2:n.1005T>C (GLA)
NM_001199973.2:c.300+3013A>G (RPL36A-HNRNPH2)	NP_001186902.2:n.300+3013A>G
NM_001199974.2:c.177+6648A>G (RPL36A-HNRNPH2)	NP_001186903.2:n.177+6648A>G
NM_000169.3:c.899T>C (GLA) MANE Select	NP_000160.1:p.Leu300Pro
NR_164783.1:n.978T>C (GLA)