Canonical Allele Identifier: CA022267

Gene: GLA RPL36A-HNRNPH2

Linked Data

• ClinVar Variation Id: 10740
• ClinVar RCV Id: RCV000011488 ; RCV000723545
• dbSNP Id: rs28935492
• MyVariant Identifiers: chrX:g.100653374C>G (hg19) ; chrX:g.101398386C>G (hg38)
• PubMed: PMID:7504405 ; PMID:23891399

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.101398386C>G , CM000685.2:g.101398386C>G	GRCh38
NC_000023.10:g.100653374C>G , CM000685.1:g.100653374C>G	GRCh37
NC_000023.9:g.100540030C>G	NCBI36
NG_007119.1:g.14578G>C , LRG_672:g.14578G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000486121.7:c.*429G>C (GLA)	ENSP00000501124.2:n.*429G>C
ENST00000674127.2:c.*486G>C (GLA)	ENSP00000501044.2:n.*486G>C
ENST00000710365.1:c.1058G>C (GLA)	ENSP00000518234.1:p.Gly353Ala
ENST00000218516.4:c.983G>C (GLA) MANE Select	ENSP00000218516.4:p.Gly328Ala
ENST00000466414.2:n.1119G>C (GLA)
ENST00000468823.2:n.2135G>C (GLA)
ENST00000479445.2:n.1597G>C (GLA)
ENST00000480513.6:c.*291G>C (GLA)	ENSP00000497055.1:n.*291G>C
ENST00000486121.6:c.1028G>C (GLA)
ENST00000649178.1:c.1106G>C (GLA)	ENSP00000498186.1:p.Gly369Ala
ENST00000674127.1:c.1083G>C (GLA)	ENSP00000501044.1:n.1083G>C
ENST00000674142.1:n.1287G>C (GLA)
ENST00000674634.2:c.983G>C (GLA)	ENSP00000502629.2:p.Gly328Ala
ENST00000675592.1:c.802-287G>C (GLA)	ENSP00000502239.1:n.802-287G>C
ENST00000675799.1:c.*508G>C (GLA)	ENSP00000502661.1:n.*508G>C
ENST00000675968.1:n.3854G>C (GLA)
ENST00000676156.1:c.947G>C (GLA)	ENSP00000501730.1:p.Gly316Ala
ENST00000676372.1:c.1049G>C (GLA)	ENSP00000502805.1:n.1049G>C
ENST00000218516.3:c.983G>C (GLA)	ENSP00000218516.3:p.Gly328Ala
ENST00000409170.3:c.300+2929C>G (RPL36A-HNRNPH2)	ENSP00000386655.4:n.300+2929C>G
ENST00000409338.5:c.177+6564C>G (RPL36A-HNRNPH2)	ENSP00000386974.2:n.177+6564C>G
ENST00000466414.1:n.309G>C (GLA)
ENST00000493905.6:c.*371G>C (GLA)	ENSP00000476935.1:n.*371G>C
NM_000169.2:c.983G>C , LRG_672t1:c.983G>C (GLA)	NP_000160.1:p.Gly328Ala
NM_001199973.1:c.408+2929C>G (RPL36A-HNRNPH2)	NP_001186902.1:n.408+2929C>G
NM_001199974.1:c.285+6564C>G (RPL36A-HNRNPH2)	NP_001186903.1:n.285+6564C>G
XR_938397.1:n.1068G>C (GLA)
XR_938397.2:n.1089G>C (GLA)
NM_001199973.2:c.300+2929C>G (RPL36A-HNRNPH2)	NP_001186902.2:n.300+2929C>G
NM_001199974.2:c.177+6564C>G (RPL36A-HNRNPH2)	NP_001186903.2:n.177+6564C>G
NM_000169.3:c.983G>C (GLA) MANE Select	NP_000160.1:p.Gly328Ala
NR_164783.1:n.1062G>C (GLA)