Canonical Allele Identifier: CA16616625

Gene: GLA RPL36A-HNRNPH2

Linked Data

• ClinVar Variation Id: 405508
• ClinVar RCV Id: RCV000475829 ; RCV000723440
• dbSNP Id: rs1060500747
• MyVariant Identifiers: chrX:g.100653839C>T (hg19) ; chrX:g.101398851C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.101398851C>T , CM000685.2:g.101398851C>T	GRCh38
NC_000023.10:g.100653839C>T , CM000685.1:g.100653839C>T	GRCh37
NC_000023.9:g.100540495C>T	NCBI36
NG_007119.1:g.14113G>A , LRG_672:g.14113G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000486121.7:c.*181G>A (GLA)	ENSP00000501124.2:n.*181G>A
ENST00000674127.2:c.*238G>A (GLA)	ENSP00000501044.2:n.*238G>A
ENST00000710365.1:c.810G>A (GLA)	ENSP00000518234.1:p.Trp270Ter
ENST00000218516.4:c.735G>A (GLA) MANE Select	ENSP00000218516.4:p.Trp245Ter
ENST00000466414.2:n.654G>A (GLA)
ENST00000468823.2:n.1670G>A (GLA)
ENST00000479445.2:n.1132G>A (GLA)
ENST00000480513.6:c.*43G>A (GLA)	ENSP00000497055.1:n.*43G>A
ENST00000486121.6:c.780G>A (GLA)
ENST00000649178.1:c.858G>A (GLA)	ENSP00000498186.1:p.Trp286Ter
ENST00000674127.1:c.835G>A (GLA)	ENSP00000501044.1:n.835G>A
ENST00000674142.1:n.822G>A (GLA)
ENST00000674634.2:c.735G>A (GLA)	ENSP00000502629.2:p.Trp245Ter
ENST00000675592.1:c.735G>A (GLA)	ENSP00000502239.1:p.Trp245Ter
ENST00000675799.1:c.*43G>A (GLA)	ENSP00000502661.1:n.*43G>A
ENST00000675968.1:n.3389G>A (GLA)
ENST00000676156.1:c.699G>A (GLA)	ENSP00000501730.1:p.Trp233Ter
ENST00000676372.1:c.735G>A (GLA)	ENSP00000502805.1:p.Trp245Ter
ENST00000218516.3:c.735G>A (GLA)	ENSP00000218516.3:p.Trp245Ter
ENST00000409170.3:c.300+3394C>T (RPL36A-HNRNPH2)	ENSP00000386655.4:n.300+3394C>T
ENST00000409338.5:c.177+7029C>T (RPL36A-HNRNPH2)	ENSP00000386974.2:n.177+7029C>T
ENST00000468823.1:n.284G>A (GLA)
ENST00000480513.5:n.573G>A (GLA)
ENST00000493905.6:c.*123G>A (GLA)	ENSP00000476935.1:n.*123G>A
NM_000169.2:c.735G>A , LRG_672t1:c.735G>A (GLA)	NP_000160.1:p.Trp245Ter
NM_001199973.1:c.408+3394C>T (RPL36A-HNRNPH2)	NP_001186902.1:n.408+3394C>T
NM_001199974.1:c.285+7029C>T (RPL36A-HNRNPH2)	NP_001186903.1:n.285+7029C>T
XR_938397.1:n.820G>A (GLA)
XR_938397.2:n.841G>A (GLA)
NM_001199973.2:c.300+3394C>T (RPL36A-HNRNPH2)	NP_001186902.2:n.300+3394C>T
NM_001199974.2:c.177+7029C>T (RPL36A-HNRNPH2)	NP_001186903.2:n.177+7029C>T
NM_000169.3:c.735G>A (GLA) MANE Select	NP_000160.1:p.Trp245Ter
NR_164783.1:n.814G>A (GLA)