Canonical Allele Identifier: CA022260

Gene: GLA RPL36A-HNRNPH2

Linked Data

• ClinVar Variation Id: 198053
• ClinVar RCV Id: RCV000179268 ; RCV000780293
• dbSNP Id: rs104894832
• MyVariant Identifiers: chrX:g.100653375C>G (hg19) ; chrX:g.101398387C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.101398387C>G , CM000685.2:g.101398387C>G	GRCh38
NC_000023.10:g.100653375C>G , CM000685.1:g.100653375C>G	GRCh37
NC_000023.9:g.100540031C>G	NCBI36
NG_007119.1:g.14577G>C , LRG_672:g.14577G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000486121.7:c.*428G>C (GLA)	ENSP00000501124.2:n.*428G>C
ENST00000674127.2:c.*485G>C (GLA)	ENSP00000501044.2:n.*485G>C
ENST00000710365.1:c.1057G>C (GLA)	ENSP00000518234.1:p.Gly353Arg
ENST00000218516.4:c.982G>C (GLA) MANE Select	ENSP00000218516.4:p.Gly328Arg
ENST00000466414.2:n.1118G>C (GLA)
ENST00000468823.2:n.2134G>C (GLA)
ENST00000479445.2:n.1596G>C (GLA)
ENST00000480513.6:c.*290G>C (GLA)	ENSP00000497055.1:n.*290G>C
ENST00000486121.6:c.1027G>C (GLA)
ENST00000649178.1:c.1105G>C (GLA)	ENSP00000498186.1:p.Gly369Arg
ENST00000674127.1:c.1082G>C (GLA)	ENSP00000501044.1:n.1082G>C
ENST00000674142.1:n.1286G>C (GLA)
ENST00000674634.2:c.982G>C (GLA)	ENSP00000502629.2:p.Gly328Arg
ENST00000675592.1:c.802-288G>C (GLA)	ENSP00000502239.1:n.802-288G>C
ENST00000675799.1:c.*507G>C (GLA)	ENSP00000502661.1:n.*507G>C
ENST00000675968.1:n.3853G>C (GLA)
ENST00000676156.1:c.946G>C (GLA)	ENSP00000501730.1:p.Gly316Arg
ENST00000676372.1:c.1048G>C (GLA)	ENSP00000502805.1:n.1048G>C
ENST00000218516.3:c.982G>C (GLA)	ENSP00000218516.3:p.Gly328Arg
ENST00000409170.3:c.300+2930C>G (RPL36A-HNRNPH2)	ENSP00000386655.4:n.300+2930C>G
ENST00000409338.5:c.177+6565C>G (RPL36A-HNRNPH2)	ENSP00000386974.2:n.177+6565C>G
ENST00000466414.1:n.308G>C (GLA)
ENST00000493905.6:c.*370G>C (GLA)	ENSP00000476935.1:n.*370G>C
NM_000169.2:c.982G>C , LRG_672t1:c.982G>C (GLA)	NP_000160.1:p.Gly328Arg
NM_001199973.1:c.408+2930C>G (RPL36A-HNRNPH2)	NP_001186902.1:n.408+2930C>G
NM_001199974.1:c.285+6565C>G (RPL36A-HNRNPH2)	NP_001186903.1:n.285+6565C>G
XR_938397.1:n.1067G>C (GLA)
XR_938397.2:n.1088G>C (GLA)
NM_001199973.2:c.300+2930C>G (RPL36A-HNRNPH2)	NP_001186902.2:n.300+2930C>G
NM_001199974.2:c.177+6565C>G (RPL36A-HNRNPH2)	NP_001186903.2:n.177+6565C>G
NM_000169.3:c.982G>C (GLA) MANE Select	NP_000160.1:p.Gly328Arg
NR_164783.1:n.1061G>C (GLA)