Canonical Allele Identifier: CA413921220

Gene: GLA RPL36A-HNRNPH2

Linked Data

• MyVariant Identifiers: chrX:g.100653072C>T (hg19) ; chrX:g.101398084C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.101398084C>T , CM000685.2:g.101398084C>T	GRCh38
NC_000023.10:g.100653072C>T , CM000685.1:g.100653072C>T	GRCh37
NC_000023.9:g.100539728C>T	NCBI36
NG_007119.1:g.14880G>A , LRG_672:g.14880G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000486121.7:c.*461G>A (GLA)	ENSP00000501124.2:n.*461G>A
ENST00000674127.2:c.*518G>A (GLA)	ENSP00000501044.2:n.*518G>A
ENST00000710365.1:c.1090G>A (GLA)	ENSP00000518234.1:p.Val364Met
ENST00000218516.4:c.1015G>A (GLA) MANE Select	ENSP00000218516.4:p.Val339Met
ENST00000466414.2:n.1151G>A (GLA)
ENST00000468823.2:n.2437G>A (GLA)
ENST00000479445.2:n.1629G>A (GLA)
ENST00000480513.6:c.*323G>A (GLA)	ENSP00000497055.1:n.*323G>A
ENST00000486121.6:c.1060G>A (GLA)
ENST00000649178.1:c.1138G>A (GLA)	ENSP00000498186.1:p.Val380Met
ENST00000674127.1:c.1115G>A (GLA)	ENSP00000501044.1:n.1115G>A
ENST00000674142.1:n.1319G>A (GLA)
ENST00000675592.1:c.817G>A (GLA)	ENSP00000502239.1:p.Val273Met
ENST00000675799.1:c.*540G>A (GLA)	ENSP00000502661.1:n.*540G>A
ENST00000675968.1:n.3886G>A (GLA)
ENST00000676156.1:c.979G>A (GLA)	ENSP00000501730.1:p.Val327Met
ENST00000676372.1:c.1081G>A (GLA)	ENSP00000502805.1:n.1081G>A
ENST00000218516.3:c.1015G>A (GLA)	ENSP00000218516.3:p.Val339Met
ENST00000409170.3:c.300+2627C>T (RPL36A-HNRNPH2)	ENSP00000386655.4:n.300+2627C>T
ENST00000409338.5:c.177+6262C>T (RPL36A-HNRNPH2)	ENSP00000386974.2:n.177+6262C>T
ENST00000466414.1:n.341G>A (GLA)
ENST00000493905.6:c.*403G>A (GLA)	ENSP00000476935.1:n.*403G>A
NM_000169.2:c.1015G>A , LRG_672t1:c.1015G>A (GLA)	NP_000160.1:p.Val339Met
NM_001199973.1:c.408+2627C>T (RPL36A-HNRNPH2)	NP_001186902.1:n.408+2627C>T
NM_001199974.1:c.285+6262C>T (RPL36A-HNRNPH2)	NP_001186903.1:n.285+6262C>T
XR_938397.1:n.1100G>A (GLA)
XR_938397.2:n.1121G>A (GLA)
NM_001199973.2:c.300+2627C>T (RPL36A-HNRNPH2)	NP_001186902.2:n.300+2627C>T
NM_001199974.2:c.177+6262C>T (RPL36A-HNRNPH2)	NP_001186903.2:n.177+6262C>T
NM_000169.3:c.1015G>A (GLA) MANE Select	NP_000160.1:p.Val339Met
NR_164783.1:n.1094G>A (GLA)