Canonical Allele Identifier: CA352836

Gene: GLA RPL36A-HNRNPH2

Linked Data

• dbSNP Id: rs869312224
• MyVariant Identifiers: chrX:g.100653014T>C (hg19) ; chrX:g.101398026T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.101398026T>C , CM000685.2:g.101398026T>C	GRCh38
NC_000023.10:g.100653014T>C , CM000685.1:g.100653014T>C	GRCh37
NC_000023.9:g.100539670T>C	NCBI36
NG_007119.1:g.14938A>G , LRG_672:g.14938A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000486121.7:c.*519A>G (GLA)	ENSP00000501124.2:n.*519A>G
ENST00000674127.2:c.*576A>G (GLA)	ENSP00000501044.2:n.*576A>G
ENST00000710365.1:c.1148A>G (GLA)	ENSP00000518234.1:p.Glu383Gly
ENST00000218516.4:c.1073A>G (GLA) MANE Select	ENSP00000218516.4:p.Glu358Gly
ENST00000466414.2:n.1209A>G (GLA)
ENST00000468823.2:n.2495A>G (GLA)
ENST00000479445.2:n.1687A>G (GLA)
ENST00000480513.6:c.*381A>G (GLA)	ENSP00000497055.1:n.*381A>G
ENST00000486121.6:c.1118A>G (GLA)
ENST00000649178.1:c.1196A>G (GLA)	ENSP00000498186.1:p.Glu399Gly
ENST00000674127.1:c.1173A>G (GLA)	ENSP00000501044.1:n.1173A>G
ENST00000674142.1:n.1377A>G (GLA)
ENST00000675592.1:c.875A>G (GLA)	ENSP00000502239.1:p.Glu292Gly
ENST00000675799.1:c.*598A>G (GLA)	ENSP00000502661.1:n.*598A>G
ENST00000675968.1:n.3944A>G (GLA)
ENST00000676156.1:c.1037A>G (GLA)	ENSP00000501730.1:p.Glu346Gly
ENST00000676372.1:c.1139A>G (GLA)	ENSP00000502805.1:n.1139A>G
ENST00000218516.3:c.1073A>G (GLA)	ENSP00000218516.3:p.Glu358Gly
ENST00000409170.3:c.300+2569T>C (RPL36A-HNRNPH2)	ENSP00000386655.4:n.300+2569T>C
ENST00000409338.5:c.177+6204T>C (RPL36A-HNRNPH2)	ENSP00000386974.2:n.177+6204T>C
ENST00000466414.1:n.399A>G (GLA)
ENST00000493905.6:c.*461A>G (GLA)	ENSP00000476935.1:n.*461A>G
NM_000169.2:c.1073A>G , LRG_672t1:c.1073A>G (GLA)	NP_000160.1:p.Glu358Gly
NM_001199973.1:c.408+2569T>C (RPL36A-HNRNPH2)	NP_001186902.1:n.408+2569T>C
NM_001199974.1:c.285+6204T>C (RPL36A-HNRNPH2)	NP_001186903.1:n.285+6204T>C
XR_938397.1:n.1158A>G (GLA)
XR_938397.2:n.1179A>G (GLA)
NM_001199973.2:c.300+2569T>C (RPL36A-HNRNPH2)	NP_001186902.2:n.300+2569T>C
NM_001199974.2:c.177+6204T>C (RPL36A-HNRNPH2)	NP_001186903.2:n.177+6204T>C
NM_000169.3:c.1073A>G (GLA) MANE Select	NP_000160.1:p.Glu358Gly
NR_164783.1:n.1152A>G (GLA)