Canonical Allele Identifier: CA021827

Gene: GLA RPL36A-HNRNPH2

Linked Data

• ClinVar Variation Id: 42456
• ClinVar RCV Id: RCV000153322 ; RCV000723986 ; RCV000769540 ; RCV002354187
• dbSNP Id: rs397515870
• gnomAD v4: X-101400692-G-T
• MyVariant Identifiers: chrX:g.100655680G>T (hg19) ; chrX:g.101400692G>T (hg38)
• PubMed: PMID:8807334 ; PMID:8875188 ; PMID:15776423 ; PMID:18205205 ; PMID:21598360 ; PMID:23891399 ; PMID:24386359 ; PMID:26252393

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.101400692G>T , CM000685.2:g.101400692G>T	GRCh38
NC_000023.10:g.100655680G>T , CM000685.1:g.100655680G>T	GRCh37
NC_000023.9:g.100542336G>T	NCBI36
NG_007119.1:g.12272C>A , LRG_672:g.12272C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000486121.7:c.*59C>A (GLA)	ENSP00000501124.2:n.*59C>A
ENST00000674127.2:c.*59C>A (GLA)	ENSP00000501044.2:n.*59C>A
ENST00000710365.1:c.688C>A (GLA)	ENSP00000518234.1:p.Pro230Thr
ENST00000218516.4:c.613C>A (GLA) MANE Select	ENSP00000218516.4:p.Pro205Thr
ENST00000466414.2:n.532C>A (GLA)
ENST00000468823.2:n.1548C>A (GLA)
ENST00000479445.2:n.1010C>A (GLA)
ENST00000480513.6:c.547+940C>A (GLA)	ENSP00000497055.1:n.547+940C>A
ENST00000486121.6:c.658C>A (GLA)
ENST00000649178.1:c.736C>A (GLA)	ENSP00000498186.1:p.Pro246Thr
ENST00000674127.1:c.656C>A (GLA)	ENSP00000501044.1:n.656C>A
ENST00000674142.1:n.700C>A (GLA)
ENST00000674634.2:c.613C>A (GLA)	ENSP00000502629.2:p.Pro205Thr
ENST00000675592.1:c.613C>A (GLA)	ENSP00000502239.1:p.Pro205Thr
ENST00000675799.1:c.547+940C>A (GLA)	ENSP00000502661.1:n.547+940C>A
ENST00000675968.1:n.1548C>A (GLA)
ENST00000676156.1:c.577C>A (GLA)	ENSP00000501730.1:p.Pro193Thr
ENST00000676372.1:c.613C>A (GLA)	ENSP00000502805.1:p.Pro205Thr
ENST00000218516.3:c.613C>A (GLA)	ENSP00000218516.3:p.Pro205Thr
ENST00000409170.3:c.300+5235G>T (RPL36A-HNRNPH2)	ENSP00000386655.4:n.300+5235G>T
ENST00000409338.5:c.177+8870G>T (RPL36A-HNRNPH2)	ENSP00000386974.2:n.177+8870G>T
ENST00000468823.1:n.162C>A (GLA)
ENST00000480513.5:n.477+940C>A (GLA)
ENST00000486121.5:n.658C>A (GLA)
ENST00000493905.6:c.613C>A (GLA)	ENSP00000476935.1:p.Pro205Thr
NM_000169.2:c.613C>A , LRG_672t1:c.613C>A (GLA)	NP_000160.1:p.Pro205Thr
NM_001199973.1:c.408+5235G>T (RPL36A-HNRNPH2)	NP_001186902.1:n.408+5235G>T
NM_001199974.1:c.285+8870G>T (RPL36A-HNRNPH2)	NP_001186903.1:n.285+8870G>T
XR_938397.1:n.641C>A (GLA)
XR_938397.2:n.662C>A (GLA)
NM_001199973.2:c.300+5235G>T (RPL36A-HNRNPH2)	NP_001186902.2:n.300+5235G>T
NM_001199974.2:c.177+8870G>T (RPL36A-HNRNPH2)	NP_001186903.2:n.177+8870G>T
NM_000169.3:c.613C>A (GLA) MANE Select	NP_000160.1:p.Pro205Thr
NR_164783.1:n.635C>A (GLA)