Canonical Allele Identifier: CA413927985

Gene: GLA RPL36A-HNRNPH2

Linked Data

• ClinVar Variation Id: 997944
• ClinVar RCV Id: RCV001293627
• dbSNP Id: rs1928287649
• MyVariant Identifiers: chrX:g.100655743A>C (hg19) ; chrX:g.101400755A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.101400755A>C , CM000685.2:g.101400755A>C	GRCh38
NC_000023.10:g.100655743A>C , CM000685.1:g.100655743A>C	GRCh37
NC_000023.9:g.100542399A>C	NCBI36
NG_007119.1:g.12209T>G , LRG_672:g.12209T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000486121.7:c.665T>G (GLA)	ENSP00000501124.2:p.Leu222Ter
ENST00000674127.2:c.665T>G (GLA)	ENSP00000501044.2:p.Leu222Ter
ENST00000710365.1:c.625T>G (GLA)	ENSP00000518234.1:p.Tyr209Asp
ENST00000218516.4:c.550T>G (GLA) MANE Select	ENSP00000218516.4:p.Tyr184Asp
ENST00000466414.2:n.469T>G (GLA)
ENST00000468823.2:n.1485T>G (GLA)
ENST00000479445.2:n.947T>G (GLA)
ENST00000480513.6:c.547+877T>G (GLA)	ENSP00000497055.1:n.547+877T>G
ENST00000486121.6:c.595T>G (GLA)
ENST00000649178.1:c.673T>G (GLA)	ENSP00000498186.1:p.Tyr225Asp
ENST00000674127.1:c.593T>G (GLA)	ENSP00000501044.1:p.Leu198Ter
ENST00000674142.1:n.637T>G (GLA)
ENST00000674634.2:c.550T>G (GLA)	ENSP00000502629.2:p.Tyr184Asp
ENST00000675592.1:c.550T>G (GLA)	ENSP00000502239.1:p.Tyr184Asp
ENST00000675799.1:c.547+877T>G (GLA)	ENSP00000502661.1:n.547+877T>G
ENST00000675968.1:n.1485T>G (GLA)
ENST00000676156.1:c.514T>G (GLA)	ENSP00000501730.1:p.Tyr172Asp
ENST00000676372.1:c.550T>G (GLA)	ENSP00000502805.1:p.Tyr184Asp
ENST00000218516.3:c.550T>G (GLA)	ENSP00000218516.3:p.Tyr184Asp
ENST00000409170.3:c.300+5298A>C (RPL36A-HNRNPH2)	ENSP00000386655.4:n.300+5298A>C
ENST00000409338.5:c.177+8933A>C (RPL36A-HNRNPH2)	ENSP00000386974.2:n.177+8933A>C
ENST00000468823.1:n.99T>G (GLA)
ENST00000480513.5:n.477+877T>G (GLA)
ENST00000486121.5:n.595T>G (GLA)
ENST00000493905.6:c.550T>G (GLA)	ENSP00000476935.1:p.Tyr184Asp
NM_000169.2:c.550T>G , LRG_672t1:c.550T>G (GLA)	NP_000160.1:p.Tyr184Asp
NM_001199973.1:c.408+5298A>C (RPL36A-HNRNPH2)	NP_001186902.1:n.408+5298A>C
NM_001199974.1:c.285+8933A>C (RPL36A-HNRNPH2)	NP_001186903.1:n.285+8933A>C
XR_938397.1:n.578T>G (GLA)
XR_938397.2:n.599T>G (GLA)
NM_001199973.2:c.300+5298A>C (RPL36A-HNRNPH2)	NP_001186902.2:n.300+5298A>C
NM_001199974.2:c.177+8933A>C (RPL36A-HNRNPH2)	NP_001186903.2:n.177+8933A>C
NM_000169.3:c.550T>G (GLA) MANE Select	NP_000160.1:p.Tyr184Asp
NR_164783.1:n.572T>G (GLA)