Canonical Allele Identifier: CA352817

Gene: GLA RPL36A-HNRNPH2

Linked Data

• ClinVar Variation Id: 222425
• ClinVar RCV Id: RCV001226443
• dbSNP Id: rs869312430
• MyVariant Identifiers: chrX:g.100653539A>G (hg19) ; chrX:g.101398551A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.101398551A>G , CM000685.2:g.101398551A>G	GRCh38
NC_000023.10:g.100653539A>G , CM000685.1:g.100653539A>G	GRCh37
NC_000023.9:g.100540195A>G	NCBI36
NG_007119.1:g.14413T>C , LRG_672:g.14413T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000486121.7:c.*264T>C (GLA)	ENSP00000501124.2:n.*264T>C
ENST00000674127.2:c.*321T>C (GLA)	ENSP00000501044.2:n.*321T>C
ENST00000710365.1:c.893T>C (GLA)	ENSP00000518234.1:p.Phe298Ser
ENST00000218516.4:c.818T>C (GLA) MANE Select	ENSP00000218516.4:p.Phe273Ser
ENST00000466414.2:n.954T>C (GLA)
ENST00000468823.2:n.1970T>C (GLA)
ENST00000479445.2:n.1432T>C (GLA)
ENST00000480513.6:c.*126T>C (GLA)	ENSP00000497055.1:n.*126T>C
ENST00000486121.6:c.863T>C (GLA)
ENST00000649178.1:c.941T>C (GLA)	ENSP00000498186.1:p.Phe314Ser
ENST00000674127.1:c.918T>C (GLA)	ENSP00000501044.1:n.918T>C
ENST00000674142.1:n.1122T>C (GLA)
ENST00000674634.2:c.818T>C (GLA)	ENSP00000502629.2:p.Phe273Ser
ENST00000675592.1:c.801+234T>C (GLA)	ENSP00000502239.1:n.801+234T>C
ENST00000675799.1:c.*343T>C (GLA)	ENSP00000502661.1:n.*343T>C
ENST00000675968.1:n.3689T>C (GLA)
ENST00000676156.1:c.782T>C (GLA)	ENSP00000501730.1:p.Phe261Ser
ENST00000676372.1:c.884T>C (GLA)	ENSP00000502805.1:n.884T>C
ENST00000218516.3:c.818T>C (GLA)	ENSP00000218516.3:p.Phe273Ser
ENST00000409170.3:c.300+3094A>G (RPL36A-HNRNPH2)	ENSP00000386655.4:n.300+3094A>G
ENST00000409338.5:c.177+6729A>G (RPL36A-HNRNPH2)	ENSP00000386974.2:n.177+6729A>G
ENST00000466414.1:n.144T>C (GLA)
ENST00000468823.1:n.584T>C (GLA)
ENST00000493905.6:c.*206T>C (GLA)	ENSP00000476935.1:n.*206T>C
NM_000169.2:c.818T>C , LRG_672t1:c.818T>C (GLA)	NP_000160.1:p.Phe273Ser
NM_001199973.1:c.408+3094A>G (RPL36A-HNRNPH2)	NP_001186902.1:n.408+3094A>G
NM_001199974.1:c.285+6729A>G (RPL36A-HNRNPH2)	NP_001186903.1:n.285+6729A>G
XR_938397.1:n.903T>C (GLA)
XR_938397.2:n.924T>C (GLA)
NM_001199973.2:c.300+3094A>G (RPL36A-HNRNPH2)	NP_001186902.2:n.300+3094A>G
NM_001199974.2:c.177+6729A>G (RPL36A-HNRNPH2)	NP_001186903.2:n.177+6729A>G
NM_000169.3:c.818T>C (GLA) MANE Select	NP_000160.1:p.Phe273Ser
NR_164783.1:n.897T>C (GLA)