Canonical Allele Identifier: CA413920586

Gene: GLA RPL36A-HNRNPH2

Linked Data

• MyVariant Identifiers: chrX:g.100652973G>T (hg19) ; chrX:g.101397985G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.101397985G>T , CM000685.2:g.101397985G>T	GRCh38
NC_000023.10:g.100652973G>T , CM000685.1:g.100652973G>T	GRCh37
NC_000023.9:g.100539629G>T	NCBI36
NG_007119.1:g.14979C>A , LRG_672:g.14979C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000486121.7:c.*560C>A (GLA)	ENSP00000501124.2:n.*560C>A
ENST00000674127.2:c.*617C>A (GLA)	ENSP00000501044.2:n.*617C>A
ENST00000710365.1:c.1189C>A (GLA)	ENSP00000518234.1:p.Leu397Met
ENST00000218516.4:c.1114C>A (GLA) MANE Select	ENSP00000218516.4:p.Leu372Met
ENST00000466414.2:n.1250C>A (GLA)
ENST00000468823.2:n.2536C>A (GLA)
ENST00000479445.2:n.1728C>A (GLA)
ENST00000480513.6:c.*422C>A (GLA)	ENSP00000497055.1:n.*422C>A
ENST00000486121.6:c.1159C>A (GLA)
ENST00000649178.1:c.1237C>A (GLA)	ENSP00000498186.1:p.Leu413Met
ENST00000674127.1:c.1214C>A (GLA)	ENSP00000501044.1:n.1214C>A
ENST00000674142.1:n.1418C>A (GLA)
ENST00000675592.1:c.916C>A (GLA)	ENSP00000502239.1:p.Leu306Met
ENST00000675799.1:c.*639C>A (GLA)	ENSP00000502661.1:n.*639C>A
ENST00000675968.1:n.3985C>A (GLA)
ENST00000676156.1:c.1078C>A (GLA)	ENSP00000501730.1:p.Leu360Met
ENST00000676372.1:c.1180C>A (GLA)	ENSP00000502805.1:n.1180C>A
ENST00000218516.3:c.1114C>A (GLA)	ENSP00000218516.3:p.Leu372Met
ENST00000409170.3:c.300+2528G>T (RPL36A-HNRNPH2)	ENSP00000386655.4:n.300+2528G>T
ENST00000409338.5:c.177+6163G>T (RPL36A-HNRNPH2)	ENSP00000386974.2:n.177+6163G>T
ENST00000466414.1:n.440C>A (GLA)
ENST00000493905.6:c.*502C>A (GLA)	ENSP00000476935.1:n.*502C>A
NM_000169.2:c.1114C>A , LRG_672t1:c.1114C>A (GLA)	NP_000160.1:p.Leu372Met
NM_001199973.1:c.408+2528G>T (RPL36A-HNRNPH2)	NP_001186902.1:n.408+2528G>T
NM_001199974.1:c.285+6163G>T (RPL36A-HNRNPH2)	NP_001186903.1:n.285+6163G>T
XR_938397.1:n.1199C>A (GLA)
XR_938397.2:n.1220C>A (GLA)
NM_001199973.2:c.300+2528G>T (RPL36A-HNRNPH2)	NP_001186902.2:n.300+2528G>T
NM_001199974.2:c.177+6163G>T (RPL36A-HNRNPH2)	NP_001186903.2:n.177+6163G>T
NM_000169.3:c.1114C>A (GLA) MANE Select	NP_000160.1:p.Leu372Met
NR_164783.1:n.1193C>A (GLA)