Canonical Allele Identifier: CA517519585

Gene: GLA RPL36A-HNRNPH2

Linked Data

• MyVariant Identifiers: chrX:g.100652932T>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.101397944T>A , CM000685.2:g.101397944T>A	GRCh38
NC_000023.10:g.100652932T>A , CM000685.1:g.100652932T>A	GRCh37
NC_000023.9:g.100539588T>A	NCBI36
NG_007119.1:g.15020A>T , LRG_672:g.15020A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000486121.7:c.*601A>T (GLA)	ENSP00000501124.2:n.*601A>T
ENST00000674127.2:c.*658A>T (GLA)	ENSP00000501044.2:n.*658A>T
ENST00000710365.1:c.1230A>T (GLA)	ENSP00000518234.1:p.Thr410=
ENST00000218516.4:c.1155A>T (GLA) MANE Select	ENSP00000218516.4:p.Thr385=
ENST00000466414.2:n.1291A>T (GLA)
ENST00000468823.2:n.2577A>T (GLA)
ENST00000479445.2:n.1769A>T (GLA)
ENST00000480513.6:c.*463A>T (GLA)	ENSP00000497055.1:n.*463A>T
ENST00000486121.6:c.1200A>T (GLA)
ENST00000649178.1:c.1278A>T (GLA)	ENSP00000498186.1:p.Thr426=
ENST00000674127.1:c.1255A>T (GLA)	ENSP00000501044.1:n.1255A>T
ENST00000674142.1:n.1421+38A>T (GLA)
ENST00000675592.1:c.957A>T (GLA)	ENSP00000502239.1:p.Thr319=
ENST00000675799.1:c.*680A>T (GLA)	ENSP00000502661.1:n.*680A>T
ENST00000675968.1:n.4026A>T (GLA)
ENST00000676156.1:c.1119A>T (GLA)	ENSP00000501730.1:p.Thr373=
ENST00000676372.1:c.1221A>T (GLA)	ENSP00000502805.1:n.1221A>T
ENST00000218516.3:c.1155A>T (GLA)	ENSP00000218516.3:p.Thr385=
ENST00000409170.3:c.300+2487T>A (RPL36A-HNRNPH2)	ENSP00000386655.4:n.300+2487T>A
ENST00000409338.5:c.177+6122T>A (RPL36A-HNRNPH2)	ENSP00000386974.2:n.177+6122T>A
ENST00000466414.1:n.481A>T (GLA)
ENST00000493905.6:c.*543A>T (GLA)	ENSP00000476935.1:n.*543A>T
NM_000169.2:c.1155A>T , LRG_672t1:c.1155A>T (GLA)	NP_000160.1:p.Thr385=
NM_001199973.1:c.408+2487T>A (RPL36A-HNRNPH2)	NP_001186902.1:n.408+2487T>A
NM_001199974.1:c.285+6122T>A (RPL36A-HNRNPH2)	NP_001186903.1:n.285+6122T>A
XR_938397.1:n.1240A>T (GLA)
XR_938397.2:n.1261A>T (GLA)
NM_001199973.2:c.300+2487T>A (RPL36A-HNRNPH2)	NP_001186902.2:n.300+2487T>A
NM_001199974.2:c.177+6122T>A (RPL36A-HNRNPH2)	NP_001186903.2:n.177+6122T>A
NM_000169.3:c.1155A>T (GLA) MANE Select	NP_000160.1:p.Thr385=
NR_164783.1:n.1234A>T (GLA)