Canonical Allele Identifier: CA413922098

Gene: GLA RPL36A-HNRNPH2

Linked Data

• MyVariant Identifiers: chrX:g.100653439T>G (hg19) ; chrX:g.101398451T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.101398451T>G , CM000685.2:g.101398451T>G	GRCh38
NC_000023.10:g.100653439T>G , CM000685.1:g.100653439T>G	GRCh37
NC_000023.9:g.100540095T>G	NCBI36
NG_007119.1:g.14513A>C , LRG_672:g.14513A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000486121.7:c.*364A>C (GLA)	ENSP00000501124.2:n.*364A>C
ENST00000674127.2:c.*421A>C (GLA)	ENSP00000501044.2:n.*421A>C
ENST00000710365.1:c.993A>C (GLA)	ENSP00000518234.1:p.Gln331His
ENST00000218516.4:c.918A>C (GLA) MANE Select	ENSP00000218516.4:p.Gln306His
ENST00000466414.2:n.1054A>C (GLA)
ENST00000468823.2:n.2070A>C (GLA)
ENST00000479445.2:n.1532A>C (GLA)
ENST00000480513.6:c.*226A>C (GLA)	ENSP00000497055.1:n.*226A>C
ENST00000486121.6:c.963A>C (GLA)
ENST00000649178.1:c.1041A>C (GLA)	ENSP00000498186.1:p.Gln347His
ENST00000674127.1:c.1018A>C (GLA)	ENSP00000501044.1:n.1018A>C
ENST00000674142.1:n.1222A>C (GLA)
ENST00000674634.2:c.918A>C (GLA)	ENSP00000502629.2:p.Gln306His
ENST00000675592.1:c.801+334A>C (GLA)	ENSP00000502239.1:n.801+334A>C
ENST00000675799.1:c.*443A>C (GLA)	ENSP00000502661.1:n.*443A>C
ENST00000675968.1:n.3789A>C (GLA)
ENST00000676156.1:c.882A>C (GLA)	ENSP00000501730.1:p.Gln294His
ENST00000676372.1:c.984A>C (GLA)	ENSP00000502805.1:n.984A>C
ENST00000218516.3:c.918A>C (GLA)	ENSP00000218516.3:p.Gln306His
ENST00000409170.3:c.300+2994T>G (RPL36A-HNRNPH2)	ENSP00000386655.4:n.300+2994T>G
ENST00000409338.5:c.177+6629T>G (RPL36A-HNRNPH2)	ENSP00000386974.2:n.177+6629T>G
ENST00000466414.1:n.244A>C (GLA)
ENST00000493905.6:c.*306A>C (GLA)	ENSP00000476935.1:n.*306A>C
NM_000169.2:c.918A>C , LRG_672t1:c.918A>C (GLA)	NP_000160.1:p.Gln306His
NM_001199973.1:c.408+2994T>G (RPL36A-HNRNPH2)	NP_001186902.1:n.408+2994T>G
NM_001199974.1:c.285+6629T>G (RPL36A-HNRNPH2)	NP_001186903.1:n.285+6629T>G
XR_938397.1:n.1003A>C (GLA)
XR_938397.2:n.1024A>C (GLA)
NM_001199973.2:c.300+2994T>G (RPL36A-HNRNPH2)	NP_001186902.2:n.300+2994T>G
NM_001199974.2:c.177+6629T>G (RPL36A-HNRNPH2)	NP_001186903.2:n.177+6629T>G
NM_000169.3:c.918A>C (GLA) MANE Select	NP_000160.1:p.Gln306His
NR_164783.1:n.997A>C (GLA)