Canonical Allele Identifier: CA413922414

Gene: GLA RPL36A-HNRNPH2

Linked Data

• ClinVar Variation Id: 1396452
• ClinVar RCV Id: RCV001919968
• dbSNP Id: rs104894846
• MyVariant Identifiers: chrX:g.100653469C>A (hg19) ; chrX:g.101398481C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.101398481C>A , CM000685.2:g.101398481C>A	GRCh38
NC_000023.10:g.100653469C>A , CM000685.1:g.100653469C>A	GRCh37
NC_000023.9:g.100540125C>A	NCBI36
NG_007119.1:g.14483G>T , LRG_672:g.14483G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000486121.7:c.*334G>T (GLA)	ENSP00000501124.2:n.*334G>T
ENST00000674127.2:c.*391G>T (GLA)	ENSP00000501044.2:n.*391G>T
ENST00000710365.1:c.963G>T (GLA)	ENSP00000518234.1:p.Met321Ile
ENST00000218516.4:c.888G>T (GLA) MANE Select	ENSP00000218516.4:p.Met296Ile
ENST00000466414.2:n.1024G>T (GLA)
ENST00000468823.2:n.2040G>T (GLA)
ENST00000479445.2:n.1502G>T (GLA)
ENST00000480513.6:c.*196G>T (GLA)	ENSP00000497055.1:n.*196G>T
ENST00000486121.6:c.933G>T (GLA)
ENST00000649178.1:c.1011G>T (GLA)	ENSP00000498186.1:p.Met337Ile
ENST00000674127.1:c.988G>T (GLA)	ENSP00000501044.1:n.988G>T
ENST00000674142.1:n.1192G>T (GLA)
ENST00000674634.2:c.888G>T (GLA)	ENSP00000502629.2:p.Met296Ile
ENST00000675592.1:c.801+304G>T (GLA)	ENSP00000502239.1:n.801+304G>T
ENST00000675799.1:c.*413G>T (GLA)	ENSP00000502661.1:n.*413G>T
ENST00000675968.1:n.3759G>T (GLA)
ENST00000676156.1:c.852G>T (GLA)	ENSP00000501730.1:p.Met284Ile
ENST00000676372.1:c.954G>T (GLA)	ENSP00000502805.1:n.954G>T
ENST00000218516.3:c.888G>T (GLA)	ENSP00000218516.3:p.Met296Ile
ENST00000409170.3:c.300+3024C>A (RPL36A-HNRNPH2)	ENSP00000386655.4:n.300+3024C>A
ENST00000409338.5:c.177+6659C>A (RPL36A-HNRNPH2)	ENSP00000386974.2:n.177+6659C>A
ENST00000466414.1:n.214G>T (GLA)
ENST00000493905.6:c.*276G>T (GLA)	ENSP00000476935.1:n.*276G>T
NM_000169.2:c.888G>T , LRG_672t1:c.888G>T (GLA)	NP_000160.1:p.Met296Ile
NM_001199973.1:c.408+3024C>A (RPL36A-HNRNPH2)	NP_001186902.1:n.408+3024C>A
NM_001199974.1:c.285+6659C>A (RPL36A-HNRNPH2)	NP_001186903.1:n.285+6659C>A
XR_938397.1:n.973G>T (GLA)
XR_938397.2:n.994G>T (GLA)
NM_001199973.2:c.300+3024C>A (RPL36A-HNRNPH2)	NP_001186902.2:n.300+3024C>A
NM_001199974.2:c.177+6659C>A (RPL36A-HNRNPH2)	NP_001186903.2:n.177+6659C>A
NM_000169.3:c.888G>T (GLA) MANE Select	NP_000160.1:p.Met296Ile
NR_164783.1:n.967G>T (GLA)