Canonical Allele Identifier: CA022225

Gene: GLA RPL36A-HNRNPH2

Linked Data

• ClinVar Variation Id: 92572
• ClinVar RCV Id: RCV000078304 ; RCV002250557
• dbSNP Id: rs398123226
• MyVariant Identifiers: chrX:g.100653391G>C (hg19) ; chrX:g.101398403G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.101398403G>C , CM000685.2:g.101398403G>C	GRCh38
NC_000023.10:g.100653391G>C , CM000685.1:g.100653391G>C	GRCh37
NC_000023.9:g.100540047G>C	NCBI36
NG_007119.1:g.14561C>G , LRG_672:g.14561C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000486121.7:c.*412C>G (GLA)	ENSP00000501124.2:n.*412C>G
ENST00000674127.2:c.*469C>G (GLA)	ENSP00000501044.2:n.*469C>G
ENST00000710365.1:c.1041C>G (GLA)	ENSP00000518234.1:p.Asp347Glu
ENST00000218516.4:c.966C>G (GLA) MANE Select	ENSP00000218516.4:p.Asp322Glu
ENST00000466414.2:n.1102C>G (GLA)
ENST00000468823.2:n.2118C>G (GLA)
ENST00000479445.2:n.1580C>G (GLA)
ENST00000480513.6:c.*274C>G (GLA)	ENSP00000497055.1:n.*274C>G
ENST00000486121.6:c.1011C>G (GLA)
ENST00000649178.1:c.1089C>G (GLA)	ENSP00000498186.1:p.Asp363Glu
ENST00000674127.1:c.1066C>G (GLA)	ENSP00000501044.1:n.1066C>G
ENST00000674142.1:n.1270C>G (GLA)
ENST00000674634.2:c.966C>G (GLA)	ENSP00000502629.2:p.Asp322Glu
ENST00000675592.1:c.802-304C>G (GLA)	ENSP00000502239.1:n.802-304C>G
ENST00000675799.1:c.*491C>G (GLA)	ENSP00000502661.1:n.*491C>G
ENST00000675968.1:n.3837C>G (GLA)
ENST00000676156.1:c.930C>G (GLA)	ENSP00000501730.1:p.Asp310Glu
ENST00000676372.1:c.1032C>G (GLA)	ENSP00000502805.1:n.1032C>G
ENST00000218516.3:c.966C>G (GLA)	ENSP00000218516.3:p.Asp322Glu
ENST00000409170.3:c.300+2946G>C (RPL36A-HNRNPH2)	ENSP00000386655.4:n.300+2946G>C
ENST00000409338.5:c.177+6581G>C (RPL36A-HNRNPH2)	ENSP00000386974.2:n.177+6581G>C
ENST00000466414.1:n.292C>G (GLA)
ENST00000493905.6:c.*354C>G (GLA)	ENSP00000476935.1:n.*354C>G
NM_000169.2:c.966C>G , LRG_672t1:c.966C>G (GLA)	NP_000160.1:p.Asp322Glu
NM_001199973.1:c.408+2946G>C (RPL36A-HNRNPH2)	NP_001186902.1:n.408+2946G>C
NM_001199974.1:c.285+6581G>C (RPL36A-HNRNPH2)	NP_001186903.1:n.285+6581G>C
XR_938397.1:n.1051C>G (GLA)
XR_938397.2:n.1072C>G (GLA)
NM_001199973.2:c.300+2946G>C (RPL36A-HNRNPH2)	NP_001186902.2:n.300+2946G>C
NM_001199974.2:c.177+6581G>C (RPL36A-HNRNPH2)	NP_001186903.2:n.177+6581G>C
NM_000169.3:c.966C>G (GLA) MANE Select	NP_000160.1:p.Asp322Glu
NR_164783.1:n.1045C>G (GLA)