Canonical Allele Identifier: CA352656

Gene: GLA RPL36A-HNRNPH2

Linked Data

• ClinVar Variation Id: 222421
• ClinVar RCV Id: RCV000589129 ; RCV003137796
• dbSNP Id: rs869312427
• MyVariant Identifiers: chrX:g.100653552C>T (hg19) ; chrX:g.101398564C>T (hg38)
• PubMed: PMID:16595074 ; PMID:22004918 ; PMID:23935525 ; PMID:24334114 ; PMID:24582695

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.101398564C>T , CM000685.2:g.101398564C>T	GRCh38
NC_000023.10:g.100653552C>T , CM000685.1:g.100653552C>T	GRCh37
NC_000023.9:g.100540208C>T	NCBI36
NG_007119.1:g.14400G>A , LRG_672:g.14400G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000486121.7:c.*251G>A (GLA)	ENSP00000501124.2:n.*251G>A
ENST00000674127.2:c.*308G>A (GLA)	ENSP00000501044.2:n.*308G>A
ENST00000710365.1:c.880G>A (GLA)	ENSP00000518234.1:p.Val294Met
ENST00000218516.4:c.805G>A (GLA) MANE Select	ENSP00000218516.4:p.Val269Met
ENST00000466414.2:n.941G>A (GLA)
ENST00000468823.2:n.1957G>A (GLA)
ENST00000479445.2:n.1419G>A (GLA)
ENST00000480513.6:c.*113G>A (GLA)	ENSP00000497055.1:n.*113G>A
ENST00000486121.6:c.850G>A (GLA)
ENST00000649178.1:c.928G>A (GLA)	ENSP00000498186.1:p.Val310Met
ENST00000674127.1:c.905G>A (GLA)	ENSP00000501044.1:n.905G>A
ENST00000674142.1:n.1109G>A (GLA)
ENST00000674634.2:c.805G>A (GLA)	ENSP00000502629.2:p.Val269Met
ENST00000675592.1:c.801+221G>A (GLA)	ENSP00000502239.1:n.801+221G>A
ENST00000675799.1:c.*330G>A (GLA)	ENSP00000502661.1:n.*330G>A
ENST00000675968.1:n.3676G>A (GLA)
ENST00000676156.1:c.769G>A (GLA)	ENSP00000501730.1:p.Val257Met
ENST00000676372.1:c.871G>A (GLA)	ENSP00000502805.1:n.871G>A
ENST00000218516.3:c.805G>A (GLA)	ENSP00000218516.3:p.Val269Met
ENST00000409170.3:c.300+3107C>T (RPL36A-HNRNPH2)	ENSP00000386655.4:n.300+3107C>T
ENST00000409338.5:c.177+6742C>T (RPL36A-HNRNPH2)	ENSP00000386974.2:n.177+6742C>T
ENST00000466414.1:n.131G>A (GLA)
ENST00000468823.1:n.571G>A (GLA)
ENST00000493905.6:c.*193G>A (GLA)	ENSP00000476935.1:n.*193G>A
NM_000169.2:c.805G>A , LRG_672t1:c.805G>A (GLA)	NP_000160.1:p.Val269Met
NM_001199973.1:c.408+3107C>T (RPL36A-HNRNPH2)	NP_001186902.1:n.408+3107C>T
NM_001199974.1:c.285+6742C>T (RPL36A-HNRNPH2)	NP_001186903.1:n.285+6742C>T
XR_938397.1:n.890G>A (GLA)
XR_938397.2:n.911G>A (GLA)
NM_001199973.2:c.300+3107C>T (RPL36A-HNRNPH2)	NP_001186902.2:n.300+3107C>T
NM_001199974.2:c.177+6742C>T (RPL36A-HNRNPH2)	NP_001186903.2:n.177+6742C>T
NM_000169.3:c.805G>A (GLA) MANE Select	NP_000160.1:p.Val269Met
NR_164783.1:n.884G>A (GLA)