Canonical Allele Identifier: CA413924928

Gene: GLA RPL36A-HNRNPH2

Linked Data

• ClinVar Variation Id: 988316
• ClinVar RCV Id: RCV001269588
• dbSNP Id: rs1928196393
• MyVariant Identifiers: chrX:g.100653898A>T (hg19) ; chrX:g.101398910A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.101398910A>T , CM000685.2:g.101398910A>T	GRCh38
NC_000023.10:g.100653898A>T , CM000685.1:g.100653898A>T	GRCh37
NC_000023.9:g.100540554A>T	NCBI36
NG_007119.1:g.14054T>A , LRG_672:g.14054T>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000486121.7:c.*122T>A (GLA)	ENSP00000501124.2:n.*122T>A
ENST00000674127.2:c.*179T>A (GLA)	ENSP00000501044.2:n.*179T>A
ENST00000710365.1:c.751T>A (GLA)	ENSP00000518234.1:p.Trp251Arg
ENST00000218516.4:c.676T>A (GLA) MANE Select	ENSP00000218516.4:p.Trp226Arg
ENST00000466414.2:n.595T>A (GLA)
ENST00000468823.2:n.1611T>A (GLA)
ENST00000479445.2:n.1073T>A (GLA)
ENST00000480513.6:c.584T>A (GLA)	ENSP00000497055.1:p.Leu195Gln
ENST00000486121.6:c.721T>A (GLA)
ENST00000649178.1:c.799T>A (GLA)	ENSP00000498186.1:p.Trp267Arg
ENST00000674127.1:c.776T>A (GLA)	ENSP00000501044.1:n.776T>A
ENST00000674142.1:n.763T>A (GLA)
ENST00000674634.2:c.676T>A (GLA)	ENSP00000502629.2:p.Trp226Arg
ENST00000675592.1:c.676T>A (GLA)	ENSP00000502239.1:p.Trp226Arg
ENST00000675799.1:c.584T>A (GLA)	ENSP00000502661.1:p.Leu195Gln
ENST00000675968.1:n.3330T>A (GLA)
ENST00000676156.1:c.640T>A (GLA)	ENSP00000501730.1:p.Trp214Arg
ENST00000676372.1:c.676T>A (GLA)	ENSP00000502805.1:p.Trp226Arg
ENST00000218516.3:c.676T>A (GLA)	ENSP00000218516.3:p.Trp226Arg
ENST00000409170.3:c.300+3453A>T (RPL36A-HNRNPH2)	ENSP00000386655.4:n.300+3453A>T
ENST00000409338.5:c.177+7088A>T (RPL36A-HNRNPH2)	ENSP00000386974.2:n.177+7088A>T
ENST00000468823.1:n.225T>A (GLA)
ENST00000480513.5:n.514T>A (GLA)
ENST00000486121.5:n.721T>A (GLA)
ENST00000493905.6:c.*64T>A (GLA)	ENSP00000476935.1:n.*64T>A
NM_000169.2:c.676T>A , LRG_672t1:c.676T>A (GLA)	NP_000160.1:p.Trp226Arg
NM_001199973.1:c.408+3453A>T (RPL36A-HNRNPH2)	NP_001186902.1:n.408+3453A>T
NM_001199974.1:c.285+7088A>T (RPL36A-HNRNPH2)	NP_001186903.1:n.285+7088A>T
XR_938397.1:n.761T>A (GLA)
XR_938397.2:n.782T>A (GLA)
NM_001199973.2:c.300+3453A>T (RPL36A-HNRNPH2)	NP_001186902.2:n.300+3453A>T
NM_001199974.2:c.177+7088A>T (RPL36A-HNRNPH2)	NP_001186903.2:n.177+7088A>T
NM_000169.3:c.676T>A (GLA) MANE Select	NP_000160.1:p.Trp226Arg
NR_164783.1:n.755T>A (GLA)