Canonical Allele Identifier: CA413923302

Gene: GLA RPL36A-HNRNPH2

Linked Data

• MyVariant Identifiers: chrX:g.100653537C>A (hg19) ; chrX:g.101398549C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.101398549C>A , CM000685.2:g.101398549C>A	GRCh38
NC_000023.10:g.100653537C>A , CM000685.1:g.100653537C>A	GRCh37
NC_000023.9:g.100540193C>A	NCBI36
NG_007119.1:g.14415G>T , LRG_672:g.14415G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000486121.7:c.*266G>T (GLA)	ENSP00000501124.2:n.*266G>T
ENST00000674127.2:c.*323G>T (GLA)	ENSP00000501044.2:n.*323G>T
ENST00000710365.1:c.895G>T (GLA)	ENSP00000518234.1:p.Gly299Cys
ENST00000218516.4:c.820G>T (GLA) MANE Select	ENSP00000218516.4:p.Gly274Cys
ENST00000466414.2:n.956G>T (GLA)
ENST00000468823.2:n.1972G>T (GLA)
ENST00000479445.2:n.1434G>T (GLA)
ENST00000480513.6:c.*128G>T (GLA)	ENSP00000497055.1:n.*128G>T
ENST00000486121.6:c.865G>T (GLA)
ENST00000649178.1:c.943G>T (GLA)	ENSP00000498186.1:p.Gly315Cys
ENST00000674127.1:c.920G>T (GLA)	ENSP00000501044.1:n.920G>T
ENST00000674142.1:n.1124G>T (GLA)
ENST00000674634.2:c.820G>T (GLA)	ENSP00000502629.2:p.Gly274Cys
ENST00000675592.1:c.801+236G>T (GLA)	ENSP00000502239.1:n.801+236G>T
ENST00000675799.1:c.*345G>T (GLA)	ENSP00000502661.1:n.*345G>T
ENST00000675968.1:n.3691G>T (GLA)
ENST00000676156.1:c.784G>T (GLA)	ENSP00000501730.1:p.Gly262Cys
ENST00000676372.1:c.886G>T (GLA)	ENSP00000502805.1:n.886G>T
ENST00000218516.3:c.820G>T (GLA)	ENSP00000218516.3:p.Gly274Cys
ENST00000409170.3:c.300+3092C>A (RPL36A-HNRNPH2)	ENSP00000386655.4:n.300+3092C>A
ENST00000409338.5:c.177+6727C>A (RPL36A-HNRNPH2)	ENSP00000386974.2:n.177+6727C>A
ENST00000466414.1:n.146G>T (GLA)
ENST00000468823.1:n.586G>T (GLA)
ENST00000493905.6:c.*208G>T (GLA)	ENSP00000476935.1:n.*208G>T
NM_000169.2:c.820G>T , LRG_672t1:c.820G>T (GLA)	NP_000160.1:p.Gly274Cys
NM_001199973.1:c.408+3092C>A (RPL36A-HNRNPH2)	NP_001186902.1:n.408+3092C>A
NM_001199974.1:c.285+6727C>A (RPL36A-HNRNPH2)	NP_001186903.1:n.285+6727C>A
XR_938397.1:n.905G>T (GLA)
XR_938397.2:n.926G>T (GLA)
NM_001199973.2:c.300+3092C>A (RPL36A-HNRNPH2)	NP_001186902.2:n.300+3092C>A
NM_001199974.2:c.177+6727C>A (RPL36A-HNRNPH2)	NP_001186903.2:n.177+6727C>A
NM_000169.3:c.820G>T (GLA) MANE Select	NP_000160.1:p.Gly274Cys
NR_164783.1:n.899G>T (GLA)