Canonical Allele Identifier: CA413921815

Gene: GLA RPL36A-HNRNPH2

Linked Data

• MyVariant Identifiers: chrX:g.100653422T>A (hg19) ; chrX:g.101398434T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.101398434T>A , CM000685.2:g.101398434T>A	GRCh38
NC_000023.10:g.100653422T>A , CM000685.1:g.100653422T>A	GRCh37
NC_000023.9:g.100540078T>A	NCBI36
NG_007119.1:g.14530A>T , LRG_672:g.14530A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000486121.7:c.*381A>T (GLA)	ENSP00000501124.2:n.*381A>T
ENST00000674127.2:c.*438A>T (GLA)	ENSP00000501044.2:n.*438A>T
ENST00000710365.1:c.1010A>T (GLA)	ENSP00000518234.1:p.Gln337Leu
ENST00000218516.4:c.935A>T (GLA) MANE Select	ENSP00000218516.4:p.Gln312Leu
ENST00000466414.2:n.1071A>T (GLA)
ENST00000468823.2:n.2087A>T (GLA)
ENST00000479445.2:n.1549A>T (GLA)
ENST00000480513.6:c.*243A>T (GLA)	ENSP00000497055.1:n.*243A>T
ENST00000486121.6:c.980A>T (GLA)
ENST00000649178.1:c.1058A>T (GLA)	ENSP00000498186.1:p.Gln353Leu
ENST00000674127.1:c.1035A>T (GLA)	ENSP00000501044.1:n.1035A>T
ENST00000674142.1:n.1239A>T (GLA)
ENST00000674634.2:c.935A>T (GLA)	ENSP00000502629.2:p.Gln312Leu
ENST00000675592.1:c.802-335A>T (GLA)	ENSP00000502239.1:n.802-335A>T
ENST00000675799.1:c.*460A>T (GLA)	ENSP00000502661.1:n.*460A>T
ENST00000675968.1:n.3806A>T (GLA)
ENST00000676156.1:c.899A>T (GLA)	ENSP00000501730.1:p.Gln300Leu
ENST00000676372.1:c.1001A>T (GLA)	ENSP00000502805.1:n.1001A>T
ENST00000218516.3:c.935A>T (GLA)	ENSP00000218516.3:p.Gln312Leu
ENST00000409170.3:c.300+2977T>A (RPL36A-HNRNPH2)	ENSP00000386655.4:n.300+2977T>A
ENST00000409338.5:c.177+6612T>A (RPL36A-HNRNPH2)	ENSP00000386974.2:n.177+6612T>A
ENST00000466414.1:n.261A>T (GLA)
ENST00000493905.6:c.*323A>T (GLA)	ENSP00000476935.1:n.*323A>T
NM_000169.2:c.935A>T , LRG_672t1:c.935A>T (GLA)	NP_000160.1:p.Gln312Leu
NM_001199973.1:c.408+2977T>A (RPL36A-HNRNPH2)	NP_001186902.1:n.408+2977T>A
NM_001199974.1:c.285+6612T>A (RPL36A-HNRNPH2)	NP_001186903.1:n.285+6612T>A
XR_938397.1:n.1020A>T (GLA)
XR_938397.2:n.1041A>T (GLA)
NM_001199973.2:c.300+2977T>A (RPL36A-HNRNPH2)	NP_001186902.2:n.300+2977T>A
NM_001199974.2:c.177+6612T>A (RPL36A-HNRNPH2)	NP_001186903.2:n.177+6612T>A
NM_000169.3:c.935A>T (GLA) MANE Select	NP_000160.1:p.Gln312Leu
NR_164783.1:n.1014A>T (GLA)