Canonical Allele Identifier: CA413924934

Gene: GLA RPL36A-HNRNPH2

Linked Data

• ClinVar Variation Id: 988315
• ClinVar RCV Id: RCV001269587
• dbSNP Id: rs1928196520
• MyVariant Identifiers: chrX:g.100653899G>T (hg19) ; chrX:g.101398911G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.101398911G>T , CM000685.2:g.101398911G>T	GRCh38
NC_000023.10:g.100653899G>T , CM000685.1:g.100653899G>T	GRCh37
NC_000023.9:g.100540555G>T	NCBI36
NG_007119.1:g.14053C>A , LRG_672:g.14053C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000486121.7:c.*121C>A (GLA)	ENSP00000501124.2:n.*121C>A
ENST00000674127.2:c.*178C>A (GLA)	ENSP00000501044.2:n.*178C>A
ENST00000710365.1:c.750C>A (GLA)	ENSP00000518234.1:p.His250Gln
ENST00000218516.4:c.675C>A (GLA) MANE Select	ENSP00000218516.4:p.His225Gln
ENST00000466414.2:n.594C>A (GLA)
ENST00000468823.2:n.1610C>A (GLA)
ENST00000479445.2:n.1072C>A (GLA)
ENST00000480513.6:c.583C>A (GLA)	ENSP00000497055.1:p.Leu195Met
ENST00000486121.6:c.720C>A (GLA)
ENST00000649178.1:c.798C>A (GLA)	ENSP00000498186.1:p.His266Gln
ENST00000674127.1:c.775C>A (GLA)	ENSP00000501044.1:n.775C>A
ENST00000674142.1:n.762C>A (GLA)
ENST00000674634.2:c.675C>A (GLA)	ENSP00000502629.2:p.His225Gln
ENST00000675592.1:c.675C>A (GLA)	ENSP00000502239.1:p.His225Gln
ENST00000675799.1:c.583C>A (GLA)	ENSP00000502661.1:p.Leu195Met
ENST00000675968.1:n.3329C>A (GLA)
ENST00000676156.1:c.639C>A (GLA)	ENSP00000501730.1:p.His213Gln
ENST00000676372.1:c.675C>A (GLA)	ENSP00000502805.1:p.His225Gln
ENST00000218516.3:c.675C>A (GLA)	ENSP00000218516.3:p.His225Gln
ENST00000409170.3:c.300+3454G>T (RPL36A-HNRNPH2)	ENSP00000386655.4:n.300+3454G>T
ENST00000409338.5:c.177+7089G>T (RPL36A-HNRNPH2)	ENSP00000386974.2:n.177+7089G>T
ENST00000468823.1:n.224C>A (GLA)
ENST00000480513.5:n.513C>A (GLA)
ENST00000486121.5:n.720C>A (GLA)
ENST00000493905.6:c.*63C>A (GLA)	ENSP00000476935.1:n.*63C>A
NM_000169.2:c.675C>A , LRG_672t1:c.675C>A (GLA)	NP_000160.1:p.His225Gln
NM_001199973.1:c.408+3454G>T (RPL36A-HNRNPH2)	NP_001186902.1:n.408+3454G>T
NM_001199974.1:c.285+7089G>T (RPL36A-HNRNPH2)	NP_001186903.1:n.285+7089G>T
XR_938397.1:n.760C>A (GLA)
XR_938397.2:n.781C>A (GLA)
NM_001199973.2:c.300+3454G>T (RPL36A-HNRNPH2)	NP_001186902.2:n.300+3454G>T
NM_001199974.2:c.177+7089G>T (RPL36A-HNRNPH2)	NP_001186903.2:n.177+7089G>T
NM_000169.3:c.675C>A (GLA) MANE Select	NP_000160.1:p.His225Gln
NR_164783.1:n.754C>A (GLA)