Canonical Allele Identifier: CA413923213

Gene: GLA RPL36A-HNRNPH2

Linked Data

• ClinVar Variation Id: 524215
• ClinVar RCV Id: RCV000627821
• dbSNP Id: rs1555985010
• MyVariant Identifiers: chrX:g.100653529G>T (hg19) ; chrX:g.101398541G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.101398541G>T , CM000685.2:g.101398541G>T	GRCh38
NC_000023.10:g.100653529G>T , CM000685.1:g.100653529G>T	GRCh37
NC_000023.9:g.100540185G>T	NCBI36
NG_007119.1:g.14423C>A , LRG_672:g.14423C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000486121.7:c.*274C>A (GLA)	ENSP00000501124.2:n.*274C>A
ENST00000674127.2:c.*331C>A (GLA)	ENSP00000501044.2:n.*331C>A
ENST00000710365.1:c.903C>A (GLA)	ENSP00000518234.1:p.Ser301Arg
ENST00000218516.4:c.828C>A (GLA) MANE Select	ENSP00000218516.4:p.Ser276Arg
ENST00000466414.2:n.964C>A (GLA)
ENST00000468823.2:n.1980C>A (GLA)
ENST00000479445.2:n.1442C>A (GLA)
ENST00000480513.6:c.*136C>A (GLA)	ENSP00000497055.1:n.*136C>A
ENST00000486121.6:c.873C>A (GLA)
ENST00000649178.1:c.951C>A (GLA)	ENSP00000498186.1:p.Ser317Arg
ENST00000674127.1:c.928C>A (GLA)	ENSP00000501044.1:n.928C>A
ENST00000674142.1:n.1132C>A (GLA)
ENST00000674634.2:c.828C>A (GLA)	ENSP00000502629.2:p.Ser276Arg
ENST00000675592.1:c.801+244C>A (GLA)	ENSP00000502239.1:n.801+244C>A
ENST00000675799.1:c.*353C>A (GLA)	ENSP00000502661.1:n.*353C>A
ENST00000675968.1:n.3699C>A (GLA)
ENST00000676156.1:c.792C>A (GLA)	ENSP00000501730.1:p.Ser264Arg
ENST00000676372.1:c.894C>A (GLA)	ENSP00000502805.1:n.894C>A
ENST00000218516.3:c.828C>A (GLA)	ENSP00000218516.3:p.Ser276Arg
ENST00000409170.3:c.300+3084G>T (RPL36A-HNRNPH2)	ENSP00000386655.4:n.300+3084G>T
ENST00000409338.5:c.177+6719G>T (RPL36A-HNRNPH2)	ENSP00000386974.2:n.177+6719G>T
ENST00000466414.1:n.154C>A (GLA)
ENST00000468823.1:n.594C>A (GLA)
ENST00000493905.6:c.*216C>A (GLA)	ENSP00000476935.1:n.*216C>A
NM_000169.2:c.828C>A , LRG_672t1:c.828C>A (GLA)	NP_000160.1:p.Ser276Arg
NM_001199973.1:c.408+3084G>T (RPL36A-HNRNPH2)	NP_001186902.1:n.408+3084G>T
NM_001199974.1:c.285+6719G>T (RPL36A-HNRNPH2)	NP_001186903.1:n.285+6719G>T
XR_938397.1:n.913C>A (GLA)
XR_938397.2:n.934C>A (GLA)
NM_001199973.2:c.300+3084G>T (RPL36A-HNRNPH2)	NP_001186902.2:n.300+3084G>T
NM_001199974.2:c.177+6719G>T (RPL36A-HNRNPH2)	NP_001186903.2:n.177+6719G>T
NM_000169.3:c.828C>A (GLA) MANE Select	NP_000160.1:p.Ser276Arg
NR_164783.1:n.907C>A (GLA)