Canonical Allele Identifier: CA413927277

Gene: GLA RPL36A-HNRNPH2

Linked Data

• dbSNP Id: rs868949479
• gnomAD v4: X-101400693-C-T
• MyVariant Identifiers: chrX:g.100655681C>T (hg19) ; chrX:g.101400693C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.101400693C>T , CM000685.2:g.101400693C>T	GRCh38
NC_000023.10:g.100655681C>T , CM000685.1:g.100655681C>T	GRCh37
NC_000023.9:g.100542337C>T	NCBI36
NG_007119.1:g.12271G>A , LRG_672:g.12271G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000486121.7:c.*58G>A (GLA)	ENSP00000501124.2:n.*58G>A
ENST00000674127.2:c.*58G>A (GLA)	ENSP00000501044.2:n.*58G>A
ENST00000710365.1:c.687G>A (GLA)	ENSP00000518234.1:p.Trp229Ter
ENST00000218516.4:c.612G>A (GLA) MANE Select	ENSP00000218516.4:p.Trp204Ter
ENST00000466414.2:n.531G>A (GLA)
ENST00000468823.2:n.1547G>A (GLA)
ENST00000479445.2:n.1009G>A (GLA)
ENST00000480513.6:c.547+939G>A (GLA)	ENSP00000497055.1:n.547+939G>A
ENST00000486121.6:c.657G>A (GLA)
ENST00000649178.1:c.735G>A (GLA)	ENSP00000498186.1:p.Trp245Ter
ENST00000674127.1:c.655G>A (GLA)	ENSP00000501044.1:n.655G>A
ENST00000674142.1:n.699G>A (GLA)
ENST00000674634.2:c.612G>A (GLA)	ENSP00000502629.2:p.Trp204Ter
ENST00000675592.1:c.612G>A (GLA)	ENSP00000502239.1:p.Trp204Ter
ENST00000675799.1:c.547+939G>A (GLA)	ENSP00000502661.1:n.547+939G>A
ENST00000675968.1:n.1547G>A (GLA)
ENST00000676156.1:c.576G>A (GLA)	ENSP00000501730.1:p.Trp192Ter
ENST00000676372.1:c.612G>A (GLA)	ENSP00000502805.1:p.Trp204Ter
ENST00000218516.3:c.612G>A (GLA)	ENSP00000218516.3:p.Trp204Ter
ENST00000409170.3:c.300+5236C>T (RPL36A-HNRNPH2)	ENSP00000386655.4:n.300+5236C>T
ENST00000409338.5:c.177+8871C>T (RPL36A-HNRNPH2)	ENSP00000386974.2:n.177+8871C>T
ENST00000468823.1:n.161G>A (GLA)
ENST00000480513.5:n.477+939G>A (GLA)
ENST00000486121.5:n.657G>A (GLA)
ENST00000493905.6:c.612G>A (GLA)	ENSP00000476935.1:p.Trp204Ter
NM_000169.2:c.612G>A , LRG_672t1:c.612G>A (GLA)	NP_000160.1:p.Trp204Ter
NM_001199973.1:c.408+5236C>T (RPL36A-HNRNPH2)	NP_001186902.1:n.408+5236C>T
NM_001199974.1:c.285+8871C>T (RPL36A-HNRNPH2)	NP_001186903.1:n.285+8871C>T
XR_938397.1:n.640G>A (GLA)
XR_938397.2:n.661G>A (GLA)
NM_001199973.2:c.300+5236C>T (RPL36A-HNRNPH2)	NP_001186902.2:n.300+5236C>T
NM_001199974.2:c.177+8871C>T (RPL36A-HNRNPH2)	NP_001186903.2:n.177+8871C>T
NM_000169.3:c.612G>A (GLA) MANE Select	NP_000160.1:p.Trp204Ter
NR_164783.1:n.634G>A (GLA)