Canonical Allele Identifier: CA413923309

Gene: GLA RPL36A-HNRNPH2

Linked Data

• ClinVar Variation Id: 1059459
• ClinVar RCV Id: RCV001368747 ; RCV003130507
• dbSNP Id: rs2147472458
• MyVariant Identifiers: chrX:g.100653537C>G (hg19) ; chrX:g.101398549C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.101398549C>G , CM000685.2:g.101398549C>G	GRCh38
NC_000023.10:g.100653537C>G , CM000685.1:g.100653537C>G	GRCh37
NC_000023.9:g.100540193C>G	NCBI36
NG_007119.1:g.14415G>C , LRG_672:g.14415G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000486121.7:c.*266G>C (GLA)	ENSP00000501124.2:n.*266G>C
ENST00000674127.2:c.*323G>C (GLA)	ENSP00000501044.2:n.*323G>C
ENST00000710365.1:c.895G>C (GLA)	ENSP00000518234.1:p.Gly299Arg
ENST00000218516.4:c.820G>C (GLA) MANE Select	ENSP00000218516.4:p.Gly274Arg
ENST00000466414.2:n.956G>C (GLA)
ENST00000468823.2:n.1972G>C (GLA)
ENST00000479445.2:n.1434G>C (GLA)
ENST00000480513.6:c.*128G>C (GLA)	ENSP00000497055.1:n.*128G>C
ENST00000486121.6:c.865G>C (GLA)
ENST00000649178.1:c.943G>C (GLA)	ENSP00000498186.1:p.Gly315Arg
ENST00000674127.1:c.920G>C (GLA)	ENSP00000501044.1:n.920G>C
ENST00000674142.1:n.1124G>C (GLA)
ENST00000674634.2:c.820G>C (GLA)	ENSP00000502629.2:p.Gly274Arg
ENST00000675592.1:c.801+236G>C (GLA)	ENSP00000502239.1:n.801+236G>C
ENST00000675799.1:c.*345G>C (GLA)	ENSP00000502661.1:n.*345G>C
ENST00000675968.1:n.3691G>C (GLA)
ENST00000676156.1:c.784G>C (GLA)	ENSP00000501730.1:p.Gly262Arg
ENST00000676372.1:c.886G>C (GLA)	ENSP00000502805.1:n.886G>C
ENST00000218516.3:c.820G>C (GLA)	ENSP00000218516.3:p.Gly274Arg
ENST00000409170.3:c.300+3092C>G (RPL36A-HNRNPH2)	ENSP00000386655.4:n.300+3092C>G
ENST00000409338.5:c.177+6727C>G (RPL36A-HNRNPH2)	ENSP00000386974.2:n.177+6727C>G
ENST00000466414.1:n.146G>C (GLA)
ENST00000468823.1:n.586G>C (GLA)
ENST00000493905.6:c.*208G>C (GLA)	ENSP00000476935.1:n.*208G>C
NM_000169.2:c.820G>C , LRG_672t1:c.820G>C (GLA)	NP_000160.1:p.Gly274Arg
NM_001199973.1:c.408+3092C>G (RPL36A-HNRNPH2)	NP_001186902.1:n.408+3092C>G
NM_001199974.1:c.285+6727C>G (RPL36A-HNRNPH2)	NP_001186903.1:n.285+6727C>G
XR_938397.1:n.905G>C (GLA)
XR_938397.2:n.926G>C (GLA)
NM_001199973.2:c.300+3092C>G (RPL36A-HNRNPH2)	NP_001186902.2:n.300+3092C>G
NM_001199974.2:c.177+6727C>G (RPL36A-HNRNPH2)	NP_001186903.2:n.177+6727C>G
NM_000169.3:c.820G>C (GLA) MANE Select	NP_000160.1:p.Gly274Arg
NR_164783.1:n.899G>C (GLA)