Canonical Allele Identifier: CA413921229

Gene: GLA RPL36A-HNRNPH2

Linked Data

• MyVariant Identifiers: chrX:g.100653075C>T (hg19) ; chrX:g.101398087C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.101398087C>T , CM000685.2:g.101398087C>T	GRCh38
NC_000023.10:g.100653075C>T , CM000685.1:g.100653075C>T	GRCh37
NC_000023.9:g.100539731C>T	NCBI36
NG_007119.1:g.14877G>A , LRG_672:g.14877G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000486121.7:c.*458G>A (GLA)	ENSP00000501124.2:n.*458G>A
ENST00000674127.2:c.*515G>A (GLA)	ENSP00000501044.2:n.*515G>A
ENST00000710365.1:c.1087G>A (GLA)	ENSP00000518234.1:p.Glu363Lys
ENST00000218516.4:c.1012G>A (GLA) MANE Select	ENSP00000218516.4:p.Glu338Lys
ENST00000466414.2:n.1148G>A (GLA)
ENST00000468823.2:n.2434G>A (GLA)
ENST00000479445.2:n.1626G>A (GLA)
ENST00000480513.6:c.*320G>A (GLA)	ENSP00000497055.1:n.*320G>A
ENST00000486121.6:c.1057G>A (GLA)
ENST00000649178.1:c.1135G>A (GLA)	ENSP00000498186.1:p.Glu379Lys
ENST00000674127.1:c.1112G>A (GLA)	ENSP00000501044.1:n.1112G>A
ENST00000674142.1:n.1316G>A (GLA)
ENST00000675592.1:c.814G>A (GLA)	ENSP00000502239.1:p.Glu272Lys
ENST00000675799.1:c.*537G>A (GLA)	ENSP00000502661.1:n.*537G>A
ENST00000675968.1:n.3883G>A (GLA)
ENST00000676156.1:c.976G>A (GLA)	ENSP00000501730.1:p.Glu326Lys
ENST00000676372.1:c.1078G>A (GLA)	ENSP00000502805.1:n.1078G>A
ENST00000218516.3:c.1012G>A (GLA)	ENSP00000218516.3:p.Glu338Lys
ENST00000409170.3:c.300+2630C>T (RPL36A-HNRNPH2)	ENSP00000386655.4:n.300+2630C>T
ENST00000409338.5:c.177+6265C>T (RPL36A-HNRNPH2)	ENSP00000386974.2:n.177+6265C>T
ENST00000466414.1:n.338G>A (GLA)
ENST00000493905.6:c.*400G>A (GLA)	ENSP00000476935.1:n.*400G>A
NM_000169.2:c.1012G>A , LRG_672t1:c.1012G>A (GLA)	NP_000160.1:p.Glu338Lys
NM_001199973.1:c.408+2630C>T (RPL36A-HNRNPH2)	NP_001186902.1:n.408+2630C>T
NM_001199974.1:c.285+6265C>T (RPL36A-HNRNPH2)	NP_001186903.1:n.285+6265C>T
XR_938397.1:n.1097G>A (GLA)
XR_938397.2:n.1118G>A (GLA)
NM_001199973.2:c.300+2630C>T (RPL36A-HNRNPH2)	NP_001186902.2:n.300+2630C>T
NM_001199974.2:c.177+6265C>T (RPL36A-HNRNPH2)	NP_001186903.2:n.177+6265C>T
NM_000169.3:c.1012G>A (GLA) MANE Select	NP_000160.1:p.Glu338Lys
NR_164783.1:n.1091G>A (GLA)