Canonical Allele Identifier: CA413925098

Gene: GLA RPL36A-HNRNPH2

Linked Data

• MyVariant Identifiers: chrX:g.100653922C>A (hg19) ; chrX:g.101398934C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.101398934C>A , CM000685.2:g.101398934C>A	GRCh38
NC_000023.10:g.100653922C>A , CM000685.1:g.100653922C>A	GRCh37
NC_000023.9:g.100540578C>A	NCBI36
NG_007119.1:g.14030G>T , LRG_672:g.14030G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000486121.7:c.*98G>T (GLA)	ENSP00000501124.2:n.*98G>T
ENST00000674127.2:c.*155G>T (GLA)	ENSP00000501044.2:n.*155G>T
ENST00000710365.1:c.727G>T (GLA)	ENSP00000518234.1:p.Glu243Ter
ENST00000218516.4:c.652G>T (GLA) MANE Select	ENSP00000218516.4:p.Glu218Ter
ENST00000466414.2:n.571G>T (GLA)
ENST00000468823.2:n.1587G>T (GLA)
ENST00000479445.2:n.1049G>T (GLA)
ENST00000480513.6:c.560G>T (GLA)	ENSP00000497055.1:p.Arg187Ile
ENST00000486121.6:c.697G>T (GLA)
ENST00000649178.1:c.775G>T (GLA)	ENSP00000498186.1:p.Glu259Ter
ENST00000674127.1:c.752G>T (GLA)	ENSP00000501044.1:n.752G>T
ENST00000674142.1:n.739G>T (GLA)
ENST00000674634.2:c.652G>T (GLA)	ENSP00000502629.2:p.Glu218Ter
ENST00000675592.1:c.652G>T (GLA)	ENSP00000502239.1:p.Glu218Ter
ENST00000675799.1:c.560G>T (GLA)	ENSP00000502661.1:p.Arg187Ile
ENST00000675968.1:n.3306G>T (GLA)
ENST00000676156.1:c.616G>T (GLA)	ENSP00000501730.1:p.Glu206Ter
ENST00000676372.1:c.652G>T (GLA)	ENSP00000502805.1:p.Glu218Ter
ENST00000218516.3:c.652G>T (GLA)	ENSP00000218516.3:p.Glu218Ter
ENST00000409170.3:c.300+3477C>A (RPL36A-HNRNPH2)	ENSP00000386655.4:n.300+3477C>A
ENST00000409338.5:c.177+7112C>A (RPL36A-HNRNPH2)	ENSP00000386974.2:n.177+7112C>A
ENST00000468823.1:n.201G>T (GLA)
ENST00000480513.5:n.490G>T (GLA)
ENST00000486121.5:n.697G>T (GLA)
ENST00000493905.6:c.*40G>T (GLA)	ENSP00000476935.1:n.*40G>T
NM_000169.2:c.652G>T , LRG_672t1:c.652G>T (GLA)	NP_000160.1:p.Glu218Ter
NM_001199973.1:c.408+3477C>A (RPL36A-HNRNPH2)	NP_001186902.1:n.408+3477C>A
NM_001199974.1:c.285+7112C>A (RPL36A-HNRNPH2)	NP_001186903.1:n.285+7112C>A
XR_938397.1:n.737G>T (GLA)
XR_938397.2:n.758G>T (GLA)
NM_001199973.2:c.300+3477C>A (RPL36A-HNRNPH2)	NP_001186902.2:n.300+3477C>A
NM_001199974.2:c.177+7112C>A (RPL36A-HNRNPH2)	NP_001186903.2:n.177+7112C>A
NM_000169.3:c.652G>T (GLA) MANE Select	NP_000160.1:p.Glu218Ter
NR_164783.1:n.731G>T (GLA)