Canonical Allele Identifier: CA413919739

Gene: GLA RPL36A-HNRNPH2

Linked Data

• MyVariant Identifiers: chrX:g.100652903C>A (hg19) ; chrX:g.101397915C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.101397915C>A , CM000685.2:g.101397915C>A	GRCh38
NC_000023.10:g.100652903C>A , CM000685.1:g.100652903C>A	GRCh37
NC_000023.9:g.100539559C>A	NCBI36
NG_007119.1:g.15049G>T , LRG_672:g.15049G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000674127.2:c.*687G>T (GLA)	ENSP00000501044.2:n.*687G>T
ENST00000710365.1:c.1259G>T (GLA)	ENSP00000518234.1:p.Gly420Val
ENST00000218516.4:c.1184G>T (GLA) MANE Select	ENSP00000218516.4:p.Gly395Val
ENST00000466414.2:n.1320G>T (GLA)
ENST00000468823.2:n.2606G>T (GLA)
ENST00000479445.2:n.1798G>T (GLA)
ENST00000649178.1:c.1307G>T (GLA)	ENSP00000498186.1:p.Gly436Val
ENST00000674127.1:c.1284G>T (GLA)	ENSP00000501044.1:n.1284G>T
ENST00000674142.1:n.1421+67G>T (GLA)
ENST00000675592.1:c.986G>T (GLA)	ENSP00000502239.1:p.Gly329Val
ENST00000675799.1:c.*709G>T (GLA)	ENSP00000502661.1:n.*709G>T
ENST00000675968.1:n.4055G>T (GLA)
ENST00000676156.1:c.1148G>T (GLA)	ENSP00000501730.1:p.Gly383Val
ENST00000676372.1:c.1250G>T (GLA)	ENSP00000502805.1:n.1250G>T
ENST00000218516.3:c.1184G>T (GLA)	ENSP00000218516.3:p.Gly395Val
ENST00000409170.3:c.300+2458C>A (RPL36A-HNRNPH2)	ENSP00000386655.4:n.300+2458C>A
ENST00000409338.5:c.177+6093C>A (RPL36A-HNRNPH2)	ENSP00000386974.2:n.177+6093C>A
ENST00000466414.1:n.510G>T (GLA)
ENST00000493905.6:c.*572G>T (GLA)	ENSP00000476935.1:n.*572G>T
NM_000169.2:c.1184G>T , LRG_672t1:c.1184G>T (GLA)	NP_000160.1:p.Gly395Val
NM_001199973.1:c.408+2458C>A (RPL36A-HNRNPH2)	NP_001186902.1:n.408+2458C>A
NM_001199974.1:c.285+6093C>A (RPL36A-HNRNPH2)	NP_001186903.1:n.285+6093C>A
XR_938397.1:n.1269G>T (GLA)
XR_938397.2:n.1290G>T (GLA)
NM_001199973.2:c.300+2458C>A (RPL36A-HNRNPH2)	NP_001186902.2:n.300+2458C>A
NM_001199974.2:c.177+6093C>A (RPL36A-HNRNPH2)	NP_001186903.2:n.177+6093C>A
NM_000169.3:c.1184G>T (GLA) MANE Select	NP_000160.1:p.Gly395Val
NR_164783.1:n.1263G>T (GLA)