Canonical Allele Identifier: CA517736519

Gene: GLA RPL36A-HNRNPH2

Linked Data

• MyVariant Identifiers: chrX:g.100653007A>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.101398019A>T , CM000685.2:g.101398019A>T	GRCh38
NC_000023.10:g.100653007A>T , CM000685.1:g.100653007A>T	GRCh37
NC_000023.9:g.100539663A>T	NCBI36
NG_007119.1:g.14945T>A , LRG_672:g.14945T>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000486121.7:c.*526T>A (GLA)	ENSP00000501124.2:n.*526T>A
ENST00000674127.2:c.*583T>A (GLA)	ENSP00000501044.2:n.*583T>A
ENST00000710365.1:c.1155T>A (GLA)	ENSP00000518234.1:p.Gly385=
ENST00000218516.4:c.1080T>A (GLA) MANE Select	ENSP00000218516.4:p.Gly360=
ENST00000466414.2:n.1216T>A (GLA)
ENST00000468823.2:n.2502T>A (GLA)
ENST00000479445.2:n.1694T>A (GLA)
ENST00000480513.6:c.*388T>A (GLA)	ENSP00000497055.1:n.*388T>A
ENST00000486121.6:c.1125T>A (GLA)
ENST00000649178.1:c.1203T>A (GLA)	ENSP00000498186.1:p.Gly401=
ENST00000674127.1:c.1180T>A (GLA)	ENSP00000501044.1:n.1180T>A
ENST00000674142.1:n.1384T>A (GLA)
ENST00000675592.1:c.882T>A (GLA)	ENSP00000502239.1:p.Gly294=
ENST00000675799.1:c.*605T>A (GLA)	ENSP00000502661.1:n.*605T>A
ENST00000675968.1:n.3951T>A (GLA)
ENST00000676156.1:c.1044T>A (GLA)	ENSP00000501730.1:p.Gly348=
ENST00000676372.1:c.1146T>A (GLA)	ENSP00000502805.1:n.1146T>A
ENST00000218516.3:c.1080T>A (GLA)	ENSP00000218516.3:p.Gly360=
ENST00000409170.3:c.300+2562A>T (RPL36A-HNRNPH2)	ENSP00000386655.4:n.300+2562A>T
ENST00000409338.5:c.177+6197A>T (RPL36A-HNRNPH2)	ENSP00000386974.2:n.177+6197A>T
ENST00000466414.1:n.406T>A (GLA)
ENST00000493905.6:c.*468T>A (GLA)	ENSP00000476935.1:n.*468T>A
NM_000169.2:c.1080T>A , LRG_672t1:c.1080T>A (GLA)	NP_000160.1:p.Gly360=
NM_001199973.1:c.408+2562A>T (RPL36A-HNRNPH2)	NP_001186902.1:n.408+2562A>T
NM_001199974.1:c.285+6197A>T (RPL36A-HNRNPH2)	NP_001186903.1:n.285+6197A>T
XR_938397.1:n.1165T>A (GLA)
XR_938397.2:n.1186T>A (GLA)
NM_001199973.2:c.300+2562A>T (RPL36A-HNRNPH2)	NP_001186902.2:n.300+2562A>T
NM_001199974.2:c.177+6197A>T (RPL36A-HNRNPH2)	NP_001186903.2:n.177+6197A>T
NM_000169.3:c.1080T>A (GLA) MANE Select	NP_000160.1:p.Gly360=
NR_164783.1:n.1159T>A (GLA)