Canonical Allele Identifier: CA413921399

Gene: GLA RPL36A-HNRNPH2

Linked Data

• MyVariant Identifiers: chrX:g.100653384C>A (hg19) ; chrX:g.101398396C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.101398396C>A , CM000685.2:g.101398396C>A	GRCh38
NC_000023.10:g.100653384C>A , CM000685.1:g.100653384C>A	GRCh37
NC_000023.9:g.100540040C>A	NCBI36
NG_007119.1:g.14568G>T , LRG_672:g.14568G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000486121.7:c.*419G>T (GLA)	ENSP00000501124.2:n.*419G>T
ENST00000674127.2:c.*476G>T (GLA)	ENSP00000501044.2:n.*476G>T
ENST00000710365.1:c.1048G>T (GLA)	ENSP00000518234.1:p.Gly350Cys
ENST00000218516.4:c.973G>T (GLA) MANE Select	ENSP00000218516.4:p.Gly325Cys
ENST00000466414.2:n.1109G>T (GLA)
ENST00000468823.2:n.2125G>T (GLA)
ENST00000479445.2:n.1587G>T (GLA)
ENST00000480513.6:c.*281G>T (GLA)	ENSP00000497055.1:n.*281G>T
ENST00000486121.6:c.1018G>T (GLA)
ENST00000649178.1:c.1096G>T (GLA)	ENSP00000498186.1:p.Gly366Cys
ENST00000674127.1:c.1073G>T (GLA)	ENSP00000501044.1:n.1073G>T
ENST00000674142.1:n.1277G>T (GLA)
ENST00000674634.2:c.973G>T (GLA)	ENSP00000502629.2:p.Gly325Cys
ENST00000675592.1:c.802-297G>T (GLA)	ENSP00000502239.1:n.802-297G>T
ENST00000675799.1:c.*498G>T (GLA)	ENSP00000502661.1:n.*498G>T
ENST00000675968.1:n.3844G>T (GLA)
ENST00000676156.1:c.937G>T (GLA)	ENSP00000501730.1:p.Gly313Cys
ENST00000676372.1:c.1039G>T (GLA)	ENSP00000502805.1:n.1039G>T
ENST00000218516.3:c.973G>T (GLA)	ENSP00000218516.3:p.Gly325Cys
ENST00000409170.3:c.300+2939C>A (RPL36A-HNRNPH2)	ENSP00000386655.4:n.300+2939C>A
ENST00000409338.5:c.177+6574C>A (RPL36A-HNRNPH2)	ENSP00000386974.2:n.177+6574C>A
ENST00000466414.1:n.299G>T (GLA)
ENST00000493905.6:c.*361G>T (GLA)	ENSP00000476935.1:n.*361G>T
NM_000169.2:c.973G>T , LRG_672t1:c.973G>T (GLA)	NP_000160.1:p.Gly325Cys
NM_001199973.1:c.408+2939C>A (RPL36A-HNRNPH2)	NP_001186902.1:n.408+2939C>A
NM_001199974.1:c.285+6574C>A (RPL36A-HNRNPH2)	NP_001186903.1:n.285+6574C>A
XR_938397.1:n.1058G>T (GLA)
XR_938397.2:n.1079G>T (GLA)
NM_001199973.2:c.300+2939C>A (RPL36A-HNRNPH2)	NP_001186902.2:n.300+2939C>A
NM_001199974.2:c.177+6574C>A (RPL36A-HNRNPH2)	NP_001186903.2:n.177+6574C>A
NM_000169.3:c.973G>T (GLA) MANE Select	NP_000160.1:p.Gly325Cys
NR_164783.1:n.1052G>T (GLA)